1999 genetic and molecular breast cancer susceptibility genes genes brca2. Medical search. Frequent questions

Mutations to the CHEK2 gene have been linked to a wide range of cancers. (wikipedia.org)
1999) discovered three CHEK2 germline mutations among four Li-Fraumeni syndrome (LFS) and 18 Li-Fraumeni-like (LFL) families. (wikipedia.org)
Inherited mutations in the CHEK2 gene have been linked to certain cases of breast cancer. (wikipedia.org)
Two more CHEK2 gene mutations, CHEK2*S428F, an amino-acid substitution to the kinase domain in exon 11 and CHEK2*P85L, an amino-acid substitution in the N-terminal region (exon 1) have been found in the Ashkenazi Jewish population. (wikipedia.org)
Mutations to CHEK2 have been found in hereditary and nonhereditary cases of cancer. (wikipedia.org)
INTRODUCTION: Interpretation of results from mutation screening of tumour suppressor genes known to harbour high risk susceptibility mutations, such as APC, BRCA1 , BRCA2 , MLH1 , MSH2 , TP53 , and PTEN , is becoming an increasingly important part of clinical practice. (xenbase.org)
Interpretation of truncating mutations, gene rearrangements, and obvious splice junction mutations, is generally straightforward. (xenbase.org)
An improved method for determining codon variability in a gene and its application to the rate of fixation of mutations in evolution. (xenbase.org)
Understanding missense mutations in the BRCA1 gene: an evolutionary approach. (xenbase.org)
Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. (xenbase.org)
BRCA1 mutations in primary breast and ovarian carcinomas. (xenbase.org)
Therefore we investigated if mutations in other genes are involved in cancer development and whether TNBC is an additional indicator of mutational status besides family history and age of onset. (biomedcentral.com)
Deleterious BRCA2 mutations occurred in 5.7% of patients, all but one (c.1813dupA) being unique. (biomedcentral.com)
While no mutations were found in CDH1 and TP53 , 10 mutations were detected in one of the six other predisposition genes. (biomedcentral.com)
In summary, our data confirm and expand previous studies of a high frequency of germline mutations in genes associated with ineffective repair of DNA damage in women with TNBCs. (biomedcentral.com)
A number of recent studies have demonstrated that mutations in non-coding regions may have direct tumorigenic effects or lead to genetic instability. (frontiersin.org)
Table 1 provides a summary of cancers and gene mutations. (frontiersin.org)
Genetic testing for deleterious mutations in breast cancer 1, early onset gene ( BRCA1 ) and BRCA2 can provide key information to guide clinical decision making. (jci.org)
Women who are heterozygous carriers of mutations in either gene have a 60%-80% lifetime risk of breast cancer and a 10%-40% lifetime risk of ovarian cancer ( 1 ), reflecting a very high penetrance. (jci.org)
In the clinic, genetic testing for BRCA1 and BRCA2 mutations is offered to women in high-risk families and yields one of several possible results. (jci.org)
One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. (sagepub.com)
The mutations of BRCA2 gene predispose the cells towards neoplastic development. (biomedcentral.com)
Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. (hindawi.com)
Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. (hindawi.com)
There is strong evidence that inherited genetic factors (mutations plus single nucleotide polymorphisms) can play a major role in breast cancer susceptibility [ 1 ]. (hindawi.com)
Inherited mutations in a small number of genes account for about five to ten percent of women's cancers.These inherited variations, identified in breast, ovarian, and endometrial cancer susceptibility, can be characterized in the general population by their frequency and the magnitude of their impact upon a patient (Table 1 ).Some inherited variants occur rarely in the general population, but confer large risks to the individual. (hindawi.com)
Although inherited mutations in a small number of genes account for only about five to ten percent of women's cancers, by far the BRCA1 and BRCA2 gene mutations are the most common examples of this observation (50-70% of familial breast cancers) [ 2 ]. (hindawi.com)
Non-FA (or underlying FA) patients harboring heterozygous germline FA gene mutations may also face an increased risk of developing bone marrow failure, primary immunodeficiency disease, and hereditary cancer predisposition syndromes. (frontiersin.org)
Targeted next-generation sequencing (NGS) of a panel of 80 genes was performed on her initial bone marrow aspirate sample and identified PTPN11, NRAS , and DNMT3A somatic mutations. (frontiersin.org)
This case highlights the importance of genetic counseling in patients with hematopoietic neoplasms with high clinical suspicion for carrying cancer susceptibility gene mutations, which require timely diagnosis and personalized management. (frontiersin.org)
To date, researchers have already identified germline mutations in 22 specific genes associated with the FA pathway, each accounting for an individual FA complementation group ( 2 ). (frontiersin.org)
Here, we present the case of a 54-year-old female patient with multiple FA gene mutations. (frontiersin.org)
Comprehensive genetic testing showed that many molecular variations (including FA gene germline mutations, RAS and epigenetic pathway somatic mutations, and NUP98-HOXC11 fusion) were highly linked to her serious and complex medical history ( Figures 1A, B ). (frontiersin.org)
(B) The patient was born with four Fanconi anemia (FA) gene mutations and germline predisposition to cancers. (frontiersin.org)
She developed ovarian cancer, and then the altered FA pathway plus exposure to cytotoxic drugs promoted the emergence of acquired somatic mutations and the NUP98-HOXC11 fusion, all of which contributed to the development of secondary t-CMML. (frontiersin.org)
Some individuals are born with germline (inherited) mutations in cancer susceptibility genes (CSGs) that put them at higher risk for developing certain cancers, such as hereditary breast and ovarian cancer, or cancer syndromes. (aacr.org)
However, the potential contribution of mosaic mutations to sporadic cancer was not known, partly due to the difficulty of detecting low-frequency mutations through conventional genetic testing. (aacr.org)
In a study recently published in the AACR journal Cancer Discovery , the authors used an FDA-approved genetic test called MSK-IMPACT that can detect mutations in more than 500 cancer-related genes to determine whether mosaic variants arising during embryogenesis in CSGs could be related to the development of cancers that are thought to be sporadic. (aacr.org)
Notably, the authors found that among patients carrying mosaic variants who underwent previous germline genetic testing, most had been reported as not carrying germline mutations, and only half of those who had an evaluable medical history met the criteria for germline genetic testing, suggesting that in certain cases when a germline mutation is ruled out, mosaicism may be the culprit. (aacr.org)
In breast cancer, we are waiting for the results of large basket trials to incorporate the detection of actionable mutations to select targeted treatments, in a similar way to the management of lung cancer. (ecancer.org)
Loss of function of oncogenes, tumor suppressor genes and DNA damage processing genes has been implicated in the development of many types of cancer, but for the vast majority of cases, there is no link to specific germ line mutations. (aacrjournals.org)
Three patients demonstrated pathogenic (class 5) BRCA1 or BRCA2 mutations - one germline-related in a mixed neuroendocrine-non neuroendocrine neoplasm (MiNEN). (biomedcentral.com)
Like X-linked Pelizaeus-Merzbacher disease (PMD, MIM: 312080), which is caused by mutations in the gene encoding proteolipid protein 1 ( PLP1 , MIM: 300401), one of the major proteins in the central nervous system (CNS) myelin, PMLD is characterized by impaired motor development resulting in nystagmus, dysarthria, progressive spasticity and ataxia. (prolekarniky.cz)
Twenty-four different mutations including missense, nonsense, partial deletion and frameshift mutations of the GJC2 gene have been reported for PMLD-affected patients to date [1] - [8] . (prolekarniky.cz)
As cancer cells continue to grow and divide, they accrue more mutations, are less able to function as normal cells and displace healthy cells. (healthandenvironment.org)
The development of targeted therapies for both germline and somatic DNA mutations has increased the need for molecular profiling assays to determine the mutational status of specific genes. (oncotarget.com)
Individuals with germline mutations in the BRCA1 gene have an elevated risk of developing breast cancer, and often display characteristic clinicopathological features. (biomedcentral.com)
We examined seven cases from breast-ovarian cancer families with tumours that showed BRCA1 -like pathology but did not have detectable BRCA1 or BRCA2 germline mutations present. (biomedcentral.com)
Since then many inactivating mutations in BRCA1 have been identified as breast cancer predisposition alleles. (biomedcentral.com)
However, the majority of breast cancers that exhibit a BRCA1 -like phenotype do not harbour detectable germline mutations in BRCA1 . (biomedcentral.com)
We hypothesised that some individuals are predisposed to develop breast cancer with the features associated with BRCA1 mutations because they carry a methylated BRCA1 allele in their somatic tissues. (biomedcentral.com)
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. (escholarship.org)
Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. (escholarship.org)
Observational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. (escholarship.org)
The international sample comprised 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents. (escholarship.org)
Mutations of BRCA1 or BRCA2. (escholarship.org)
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women. (escholarship.org)
Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood. (escholarship.org)
Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). (escholarship.org)
Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. (escholarship.org)
PARP inhibitors can improve the prognosis of ovarian cancer patients with and without genetic mutations (BRCA 1/2 or HRD). (biomedcentral.com)

To date, inheritance of a mutant BRCA1 or BRCA2 gene is the best-established indicator of an increased risk of developing breast cancer. (jci.org)
Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. (escholarship.org)
Among 15 tumors from TH patients, there was no clear pattern of loss of heterozygosity (LOH) for BRCA1 or BRCA2 in either BC or OC. (escholarship.org)

Since the time of this discovery, two of the three variants (a deletion in the kinase domain in exon 10 and a missense mutation in the FHA domain in exon 3) have been linked to inherited susceptibility to breast as well as other cancers. (wikipedia.org)
Beyond initial speculations, screening of LFS and LFL patients has revealed no or very rare individual missense variants in the CHEK2 gene. (wikipedia.org)
Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. (xenbase.org)
Characterization of common BRCA1 and BRCA2 variants. (xenbase.org)
Sequence analysis of these genes is being used to identify BRCA1/2 mutation carriers, though these efforts are hampered by the high frequency of variants of unknown clinical significance (VUSs). (jci.org)
This strategy should provide new avenues for clinicians to interpret results of genetic testing of BRCA1 variants and for researchers to study the basic molecular mechanisms of BRCA1 function in in vivo model systems. (jci.org)
additionally, in recent years, an increasing number of BRCA 1/2 variants have been identified and associated with pancreatic cancer. (bvsalud.org)
Epidemiologic studies have highlighted that inherited factors are involved in 10% to 20% of PCs, mainly through deleterious variants of BRCA2. (bvsalud.org)
Alternative splicing of this gene results in multiple transcript variants. (cancerindex.org)
Comparing the genetic makeup of matched tumor and blood samples from more than 35,000 patients with cancer, the study revealed the presence of 36 pathogenic mosaic variants in several CSGs, with TP53 and RB1 being the most commonly affected. (aacr.org)
Analysis of tumor samples from the individuals carrying the pathogenic variants confirmed that these tumors had features consistent with alterations in the respective genes. (aacr.org)
For example, apparently sporadic ovarian and breast cancers from individuals who were found to carry BRCA2 mosaic variants displayed genomic instability and other features associated with deficiency in homologous recombination DNA repair. (aacr.org)
These observations indicated that the mosaic variants identified likely played a causative role in the development of these patients' cancers that appeared sporadic. (aacr.org)
This is especially true for high-penetrance pathogenic variants associated with conditions such as familial hypercholesterolemia and hereditary cancer risk syndromes like Lynch syndrome and the hereditary breast and ovarian cancer syndrome. (cdc.gov)
Common variants in breast cancer risk loci predispose to distinct tumor subtypes. (westminster.ac.uk)
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. (westminster.ac.uk)
Here we describe the analytical validation of a custom probe-based NGS tumor panel, TumorNext, which can detect single nucleotide variants, small insertions and deletions in 142 genes that are frequently mutated in somatic and/or germline cancers. (oncotarget.com)
TumorNext also detects gene fusions and structural variants, such as tandem duplications and inversions, in 15 frequently disrupted oncogenes and tumor suppressors. (oncotarget.com)
TRPV1 is the target of several novel analgesics drugs under development and therefore, TRPV1 genetic variants might represent promising candidates for pharmacogenetic modulators of drug effects. (researchgate.net)
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3. (escholarship.org)
To investigate whether common variants associated with DAE were involved in breast cancer susceptibility among BRCA1 and BRCA2 mutation carriers, a list of 175 genes was developed based of their involvement in cancer-related pathways. (escholarship.org)
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170. (escholarship.org)
We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. (escholarship.org)

The evidence from these studies has suggests that CHEK2 is not a predisposition gene to Li-Fraumeni syndrome. (wikipedia.org)
The disorders are characterized by a defect in DNA repair mechanisms or genomic stability, and patients with these disorders show increased predisposition to cancer. (medscape.com)
They are intended as guidance regarding genetic predisposition only and do not take epidemiological risk factors into account. (bmj.com)
The CFSG was set up in 1981 by a group of oncologists, scientists, and geneticists interested in hereditary cancer predisposition. (bmj.com)
Because the effect of haploinsufficiency for one protein is relatively small, we hypothesize that predisposition to cancer could be a result of the additive effect of heterozygosity for two or more genes, critical for pathways that control DNA damage signaling, repair or apoptosis. (aacrjournals.org)
Some of this discordance may be due to epigenetic defects in breast cancer susceptibility genes such as BRCA1 contributing to breast cancer predisposition. (biomedcentral.com)

NICE DG27 and DG42 guidelines recommend universal testing of newly diagnosed colorectal and endometrial cancer for Lynch syndrome (LS), however there is strong evidence of variation in delivery of these guidelines by clinical services. (cdc.gov)
After correcting the heterogeneity and horizontal pleiotropy, the results indicated that patients with SS were significantly associated with an increased risk of lymphomas (odds ratio [OR] = 1.0010, 95% confidence interval [CI]: 1.0005-1.0015, P = 0.0002) and reduced risks of prostate cancer (OR = 0.9972, 95% CI: 0.9960-0.9985, P = 2.45 × 10 −5 ) and endometrial cancer (OR = 0.9414, 95% CI: 0.9158-0.9676, P = 1.65 × 10 −5 ). (biomedcentral.com)
SS had significant causal relationships with lymphomas, prostate cancer, and endometrial cancer, and suggestive evidence of association was found in liver and bile duct cancer and cancer of urinary tract, indicating that SS may play a vital role in the incidence of these malignancies. (biomedcentral.com)
The Phase III DUO-E study has achieved very positive results Resumé (durvalumab) in combination with platinum-based chemotherapy followed by either Resumé Plus Lynparz (be improved) Lub Resumé as maintenance therapy alone, both showed a statistically significant and clinically significant improvement in progression-free survival (PFS) compared with standard chemotherapy in patients with newly diagnosed advanced or recurrent endometrial cancer. (mydrai.biz)
Endometrial cancer is the sixth most common cancer in women worldwide. (mydrai.biz)
2 The current standard of care for advanced endometrial cancer is chemotherapy. (mydrai.biz)
3,4 However, long-term outcomes in first-line endometrial cancer remain poor and new treatment options are needed. (mydrai.biz)
Susan Galbraith, vice president of oncology research and development at AstraZeneca, said: "These DUO-E data show for the first time that the combination of immunotherapy and a PARP inhibitor can provide significant clinical improvement for endometrial cancer patients. (mydrai.biz)
cancer treatment, and we hope to innovate in this way Resumé I Lynparz combination to give it to patients with endometrial cancer as soon as possible. (mydrai.biz)
Endometrial cancer is a highly heterogeneous disease that originates from the endometrium and is most common in postmenopausal women. (mydrai.biz)
9-11 Both morbidity and mortality from endometrial cancer are expected to increase from 417,400 cases and 97,400 deaths in 2020 to 608,130 cases and 157,813 deaths in 2040. (mydrai.biz)
Most endometrial cancer patients are diagnosed early in the disease, when the cancer is confined to the uterus. (mydrai.biz)
Study DUO-E (GOG 3041/ENGOT-EN10) is a three-arm, randomized, double-blind, placebo-controlled, multicenter, phase III, first-line therapy study Resumé in combination with platinum-based chemotherapy (carboplatin and paclitaxel) followed by Resumé z Lynparz Lub Resumé as maintenance therapy compared to platinum-based chemotherapy alone in the treatment of patients with newly diagnosed advanced or recurrent endometrial cancer. (mydrai.biz)
In the DUO-E study, 699 patients with newly diagnosed or recurrent stage III or IV endometrial cancer (excluding sarcoma) were randomized to 1120 mg Resumé or placebo administered every three weeks in combination with standard platinum-based chemotherapy. (mydrai.biz)
Fruits, vegetables and endometrial cancer risk in women in the European forces in synthesizing evidence on new methods for the risk of cancer: a multisite case-control study in Prospective Investigation into Cancer and Nutrition cervical cancer prevention. (who.int)

12-15% of all tumors are triple-negative breast cancers (TNBC). (biomedcentral.com)
12-15% of all tumors lack immunohistochemical expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor 2 (HER2) [ 1 ] and are therefore termed triple-negative breast cancers (TNBC). (biomedcentral.com)
Additionally, inactivation of the second allele of the mutated gene occurred in the vast majority of these tumors. (aacr.org)
Lynch syndrome (LS) affects approximately 1 in 400 individuals and predisposes to multiple cancers including colorectal, endometrial, gastric, small bowel, cholangiocarinoma and other tumors. (cdc.gov)
miR-361-5p and miR-151-5p were found to be overexpressed in PARP1-upregulating BRCA-germline mutated and sporadic breast tumors. (oncotarget.com)
In conclusion, our data showed the possibility of considering the overexpression of PARP1 and miR-151-5p as biomarkers useful to correctly treat sporadic breast cancers, which eventually could be considered as BRCAness tumors, with PARP-inhibitors. (oncotarget.com)
We profiled 162 breast tumors using expression microarrays to stratify tumors based on gene expression. (biomedcentral.com)
A subset of 55 tumors with extensive follow-up was used to identify gene sets that predicted outcome. (biomedcentral.com)
By comparing outcome prediction within subgroups based on ER status, grade, and nodal status, we found that our gene set was most effective in predicting outcome in ER positive and node negative tumors. (biomedcentral.com)
We report gene expression profiling on a diverse panel of breast tumors using both unsupervised and supervised methods to distinguish clinically relevant subgroups on the basis of gene expression. (biomedcentral.com)
Fresh frozen breast tumors were collected from patients treated at UCSF and California Pacific Medical Centers after institutional review board approval. (biomedcentral.com)
A total of 140 invasive ductal tumors, 17 invasive lobular tumors, 4 DCIS, 1 inflammatory, and 8 normal breast samples from reduction mammoplasties were analyzed. (biomedcentral.com)
Expression quantitative trait loci associations were observed in both normal breast and tumors across this region, namely for ACAT1, ATM, and other genes. (escholarship.org)
NO and Ets 1 contribute to an aggressive basal like phenotype NOS2 expression is linked using a basal like pheno kind in ER breast tumors and NO signaling success in enhanced expression of basal like signature genes in ER human breast cancer cell lines. (checkpointinhibitor.com)
Although individualized targeted therapies are routinely used for patients with lung and breast tumors, personalized medicine has not achieved the same degree of success in the pancreas. (coek.info)
Triphasic pancreatic-protocol computed tomography is the best initial diagnostic test for pancreatic cancer, and on this modality these tumors appear as a hypodense solid mass. (coek.info)
Over 90% of malignant ovarian tumors were of epithelial origin and were called epithelial ovarian cancer. (biomedcentral.com)

According to current guidelines, genetic testing in Germany is recommended in BC patients, who have at least a 10% prior probability of carrying a BRCA1/2 mutation based on clinical criteria as age of manifestation, family history and contralateral disease [ 5 ] and, only since end of 2016, considering receptor triple negativity before age 50. (biomedcentral.com)
To enhance the oversight of genetic testing under the CLIA framework,CDC and the Centers for Medicare & Medicaid Services (CMS) have taken practical steps to address the quality management concerns in molecular genetic testing,including working with the Clinical Laboratory Improvement Advisory Committee (CLIAC). (cdc.gov)
With increasing use in clinical and public health practices, molecular genetic testing affects persons and their families in every life stage by contributing to disease diagnosis, prediction of future disease risk, optimization of treatment, prevention of adverse drug response, and health assessment and management. (cdc.gov)
Clinically, NGS has been used or is being developed for genetic screening, diagnostics, and clinical assessment. (frontiersin.org)
First, this article summarizes the history of massively parallel next-generation sequencing (NGS) in the context of cancer genomics and reviews recent research and clinical applications. (frontiersin.org)
Genetic nurse counsellors can be an acceptable and cost-effective alternative to clinical geneticists for breast cancer risk genetic counselling. (sagepub.com)
however, it is not yet introduced in metastatic colorectal cancer (mCRC) routine clinical practice. (bvsalud.org)
As part of our mission to eliminate cancer, MD Anderson researchers conduct hundreds of clinical trials to test new treatments for both common and rare cancers. (mdanderson.org)
Cancer genetics is a new and rapidly expanding speciality to which clinicians come with expertise in clinical and molecular genetics and in oncology. (bmj.com)
Women with a family history of breast cancer are usually seen initially by the primary care team and referred to either a symptomatic breast clinic, to a familial breast cancer clinic, or directly to the clinical genetics service. (bmj.com)
There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families. (cdc.gov)
We describe the clinical and molecular features of a child who presented with a large abdominal mass, AML, and a new CK, involving chromosomes 11, 16, and 19 leading to a KMT2A-MLLT1 fusion and 2 extra copies of the ELL gene, thus resulting in the concurrent overexpression of MLLT1 and ELL. (cancerindex.org)
Breast cancer is a heterogeneous disease, presenting with a wide range of histologic, clinical, and genetic features. (biomedcentral.com)
This robust gene selection with extensive validation has identified a predictive gene set that may have clinical utility for outcome prediction in breast cancer patients. (biomedcentral.com)
Indeed, it has been proposed that such gene sets should be employed in clinical practice to aid in decision making for patients. (biomedcentral.com)
Our robust gene selection and validation demonstrates that predictive gene sets derived from expression microarray data can perform as independent predictive markers, and thus may have great clinical utility. (biomedcentral.com)
Nonetheless, there are several pathways that could be targeted in pancreatic cancer, and consequently there are numerous clinical trials currently under way. (coek.info)

In the years 2007 and 2008, when gene testing was restricted to BRCA1 and BRCA2 several studies have demonstrated that BRCA1 -mutation carriers are more likely to be diagnosed with TNBC than non-carriers [ 6 ]. (biomedcentral.com)
Using data from a genome-wide map of SNPs associated with allelic expression, we assessed the association of ~320 SNPs located in the vicinity of these genes with breast and ovarian cancer risks in 15,252 BRCA1 and 8211 BRCA2 mutation carriers ascertained from 54 studies participating in the Consortium of Investigators of Modifiers of BRCA1/2. (escholarship.org)
We identified a region on 11q22.3 that is significantly associated with breast cancer risk in BRCA1 mutation carriers (most significant SNP rs228595 p = 7 × 10 -6 ). (escholarship.org)
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers. (escholarship.org)
In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. (escholarship.org)

Despite these advances made in identifying inherited breast cancer susceptibility genes, the vast majority of breast cancers are sporadic, that is, no identifiable mutation in one of the known breast cancer susceptibility genes. (hindawi.com)

The first solid tumor exomes to be investigated were from 11 breast and 11 colorectal cancer tissue samples. (frontiersin.org)
Both experience high rates of lung and colorectal cancer. (healthandenvironment.org)
The Molecular Biology of Colorectal Cancer. (westminster.ac.uk)

Genetic loci implicated in hereditary, familial, and sporadic breast cancer susceptibility. (hindawi.com)
This identified approximately 140 chromosome loci where nucleotides deviated from the reference sequence GRCh37 hg19 comprising the three genes TRPV1, LTB4R and LTB4R2. (researchgate.net)
We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. (escholarship.org)

identified 189 frequently mutated genes associated with these cancers, most of which were not previously known. (frontiersin.org)

A recurring problem in the clinic is that many detectable changes within the BRCA1 gene produce subtle alterations to the protein that are not easily recognized as either harmful (loss-of-function) alleles or harmless and thus inconsequential polymorphisms. (jci.org)
Based on the heterogeneity within a specific tumor type, a combination of genomic alterations defines the cancer subtype, biologic behavior, and in some cases, response to therapeutics. (hindawi.com)
Nevertheless, the identification of novel additional molecular alterations is of great interest, opening to new prognostic and therapeutic strategies for such heterogeneous hematological disease. (cancerindex.org)
Most recently, some potentially treatable molecular alterations were described. (biomedcentral.com)
In five out of eleven small bowel carcinomas we found potentially treatable genetic alterations. (biomedcentral.com)
Our results underscore, in particular, the relevance of potentially treatable molecular alterations (like ERBB2, BRCA and MSI) in small bowel carcinomas. (biomedcentral.com)
These time windows are considered as specific periods of susceptibility for breast cancer because significant structural and functional changes occur in the mammary gland, as well as alterations in the mammary micro-environment and hormone signaling that may influence risk. (biomedcentral.com)
BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. (escholarship.org)

Since that time, advances in scientific research and technology have led to a substantial increase both in the health conditions for which genetic defects or variations can be detected with molecular methods and in the spectrum of the molecular testing methods ( 1 ). (cdc.gov)
Defects in the ability of cells to properly respond to and repair DNA damage result in genomic instability and underlie many forms of cancer. (mdanderson.org)
Fanconi anemia (FA) is a rare genetic disease characterized by developmental defects, progressive bone marrow failure, and increased susceptibility to cancer. (uri.edu)

Biomarkers in Patients with Metastatic Breast Cancer and the PRAEGNANT Study Network vat recente ontwikkelingen samen en beschrijft hoe het Preagnant netwerk een professionele infrastructuur creeërt voor patiënten en professionals, artsen en onderzoekers. (kanker-actueel.nl)
For example, breast cancer that spreads to and forms a metastatic tumor in the lung is metastatic breast cancer, not lung cancer. (healthandenvironment.org)

Improvements in the quality and use of genetic laboratory services should improve the quality of health care and health outcomes for patients and families of patients. (cdc.gov)
The poorest outcomes of breast cancer seen in the region contrast with the lower mortality reported in developed countries. (ecancer.org)
Furthermore, accessing genetic or genomic lab reports may increase patient anxiety due to confusion about the purpose and outcomes of testing [[ 26 ]], and thus adversely influence their medical care. (biomedcentral.com)
Am J outcomes associated with treatment of cervical the risk of cancer: a multisite case-control study in Clin Nutr 2008;88:1567-75. (who.int)

We hypothesised that inactivation of BRCA1 by promoter methylation could occur as a germline or an early somatic event that predisposes to breast cancer with the phenotype normally associated with BRCA1 germline mutation. (biomedcentral.com)

The last century's paradigm "one agent - one disease" has helped to identify the major causal pathways and the identification of pollution related diseases, including cancer. (biomedcentral.com)
The term "oncotarget" encompasses all molecules, pathways, cellular functions, cell types, and even tissues that can be viewed as targets relevant to cancer as well as other diseases. (oncotarget.com)

The risk for other cancers is increased 4-fold (2-fold to 3-fold increased risk for breast cancer in carriers). (medscape.com)
This association was absent in BRCA2 carriers (p = 0.57). (escholarship.org)
To identify mutation-specific cancer risks for carriers of BRCA1/2. (escholarship.org)

A major epidemiological study on environmental tobacco smoke has been completed and revealed a significant dose-response relationship between passive smoking (at home or at the workplace) and lung cancer. (who.int)
Cancer types that have been well documented in literature to be related with environmental exposure include the reproductive system, breast, lung, kidney, pancreas, and brain. (biomedcentral.com)
14 Cancers increasing in the US include lung cancer (especially in women), melanoma, non-Hodgkin lymphoma and myeloma. (healthandenvironment.org)

Throughout the lifetime of patients with an FA gene mutation, DNA damage increasing accumulates, which would lead to a complex clinically and genetically heterogeneous disorder characterized by developmental abnormalities, bone marrow failure (BMF), immune deficiency, and a high risk of developing various cancers (e.g. (frontiersin.org)

A CHEK2 mutation known as the I157T variant to the FHA domain in exon 3 has also been linked to breast cancer but at a lower risk than the CHEK2*1100delC mutation. (wikipedia.org)
A cohort of 80 healthy subjects of Western European descent was screened to evaluate and validate the detection of exomic sequences of the coding genes with 25 base pair exon padding. (researchgate.net)

We performed a germline panel-based screening of 10 high and low-moderate penetrance breast cancer susceptibility genes ( BRCA1 , BRCA2 , ATM , CDH1 , CHEK2 , NBN , PALB2 , RAD51C , RAD51D and TP53) in 229 consecutive individuals affected with TNBC unselected for age, family history or bilateral disease. (biomedcentral.com)

CHEK2 (Checkpoint kinase 2) is a tumor suppressor gene that encodes the protein CHK2, a serine-threonine kinase. (wikipedia.org)
1) How does the hereditary breast tumor suppressor BRCA1 interaction network suppress breast tumor development? (mdanderson.org)
Most of these genes code for tumor suppressor proteins. (aacrjournals.org)
A major conclusion from these data is that, contrary to one of the current views on tumorigenesis, inactivation of one allele of a tumor suppressor gene is enough to contribute to tumor progression. (aacrjournals.org)

Though challenges remain, clinicians are in the early stages of using genetic data to make treatment decisions for cancer patients. (frontiersin.org)
This article focuses on three examples of how genomics is impacting the care of patients in diverse healthcare settings: genomics and infectious diseases, genomics and breast cancer, and genomics and medications. (nursingworld.org)
firstly to establish if, having been informed of their risk status and that gene testing is inappropriate for them, low and moderate risk patients have misunderstood or failed to grasp this and want a test that is inappropriate for them. (sagepub.com)
Secondly, to elicit patients' willingness to pay for cancer genetic services. (sagepub.com)
Thirdly, to ascertain the aspects of cancer genetics services that are important to high risk patients and present service configurations prioritised in terms of preferences accompanied by their costs (cost-consequences analysis). (sagepub.com)
Patient preferences were gathered from 120 patients returning a self-administered discrete choice questionnaire issued post genetic risk assessment. (sagepub.com)
Patients at low and moderate risk of developing breast cancer desired inappropriate testing. (sagepub.com)
Patients at high, moderate and low risk of developing genetic cancer were willing to pay up to £3,000 for genetic serviced, which exceeds the current estimated cost of providing testing and counselling. (sagepub.com)
CONCLUSION: ctDNA analysis is useful for molecular characterization and tumor response monitoring in patients with mCRC. (bvsalud.org)
The aim of our study is to describe the prevalence of a BRCA2 PV observed in a selected cohort of HBOC patients and their relatives, whose common origin is the eastern coast of Emilia Romagna, a region of Italy. (bvsalud.org)
Your gift will help support our mission to end cancer and make a difference in the lives of our patients. (mdanderson.org)
These guidelines have been developed to help clinicians at primary care level and at the district breast clinic to decide when it is appropriate to reassure patients concerned about genetic risk of breast cancer if the genetic risk is low, when early breast screening might be appropriate, and when, in addition, to refer to a specialist genetics clinic for further assessment and investigation. (bmj.com)
Patients with FA gene mutation are hypersensitive to DNA damage and unable to successfully repair damaged DNA when exposed to DNA-crosslinking agents, cytotoxic chemotherapeutics, and ionizing radiation ( 3 , 4 ). (frontiersin.org)
A greater understanding of the molecular basis of FA will ultimately lead to improved diagnostic and therapeutic approaches to FA, directly benefiting FA patients and their families. (uri.edu)
Patients who have certain genetic test results are at higher risk for diseases that may be preventable. (cdc.gov)
One-time screening of young adults for 3 conditions-Lynch syndrome, hereditary breast and ovarian syndrome, and familial hypercholesterolemia-would likely be cost-effective compared with only testing patients deemed "high-risk" because of their family histories, according to an analysis of hypothetical cohorts of 100?000 people aged 20 to 60 years. (cdc.gov)
Assuming a genetic test cost of $250, screening 50-year-old patients would not be cost-effective. (cdc.gov)
O'Brien C, Fogarty E, Walsh C, Dempsey O, Barry M, Kennedy MJ, McCullagh L, , The cost of the inpatient management of febile neutropenia in cancer patients - a micro-costing study in the Irish healthcare setting. (tcd.ie)
However, for patients with a KMT2A rearrangement (KMT2A-r), the prognosis appears to depend on the fusion partner gene rather than the karyotype structure. (cancerindex.org)
Epidemically, patients with Sjögren's syndrome history seemed to be under higher risks for developing certain cancers. (biomedcentral.com)
In particular, patients' health literacy, genetic literacy, e-health literacy and risk perception may influence their overall understanding of lab results and affect patient care. (biomedcentral.com)
The complexity of genetic and genomic test reports poses a major challenge to patient understanding that warrants the development of a report more appropriate for patients. (biomedcentral.com)
Little guidance is available on how best to present genetic or genomic lab results in an understandable format and at an appropriate reading level for patients. (biomedcentral.com)
And second, that understanding human individuality on a molecular level will lead willy-nilly to better care and a less alienating medical experience for patients. (scienceblog.com)
Thus, the TumorNext combined approach of NGS and OncoScan potentially allows for the identification of the "second hit" in hereditary cancer patients. (oncotarget.com)
This gene set resulted in significant separation of patients on the basis of survival in these data sets, correctly predicting outcome in 62-65% of patients. (biomedcentral.com)
Shannon N. Westin, professor of gynecologic oncology and reproductive medicine at the University of Texas MD Anderson Cancer Center and principal investigator of the DUO-E study, said, "These exciting data show that durvalumab immunotherapy can reduce disease progression in endometrial patients and significantly delay cancer. (mydrai.biz)
For patients whose disease is progressive or recurrent, treatment options are limited as the cancer is not expected to respond to hormone therapy and is treated with chemotherapy. (mydrai.biz)
The 5-year survival rate for patients with localized disease after surgical resection is 20% and for those with metastatic disease, the survival rate is only 2%.1 Only about 20% of pancreatic cancers are detected early enough to be surgically resectable. (coek.info)
The purpose of this study was to explore the efficacy and tolerability of poly ADP-ribose polymerase (PARP) inhibitors in patients with ovarian cancer. (biomedcentral.com)

We use biochemical and genetic methods to address these two important questions in FA biology. (uri.edu)
Molecular and Cellular Biology, 30, 1217-1230. (uri.edu)
Molecular biology is suffocating from information overload. (biosafety-info.net)
However, a large body of data accumulated over the last decade, with a recent significant contribution of molecular biology, clearly shows that this historical simplistic interpretation of biomonitoring data fails to answer a number of questions about environmental threats to human health. (biomedcentral.com)
losses in Molecular Biology: High Throughput Protein Expression and Purification, modelling A non-ignorable free Designing for Human Reliability: Human Factors rupture for academic and multivariate browser promoter in additional sets. (scoutconnection.com)
5)Cell and Molecular Biology by Phillip Sheeler, Donald E. This free Designing for Human was shown on July 26, 2012 by Appendix. (scoutconnection.com)

A hallmark of cancer is genomic instability. (mdanderson.org)
DSBs are cytotoxic lesions, which if left unrepaired could lead to genomic instability, cancer and even cell death. (springeropen.com)

6FLHQWLILF VWUDWHJ\ The Agency pursues three main objectives: the identification of the causes of human cancer, the elucidation of the mechanisms of carcinogenesis and the development of scientific strategies for cancer prevention. (who.int)
The notion could be that unique cellular mechanisms are triggered in the breast cancer cells to stimulate BRCA2 gene expression as a temporary measure to regulate the growth of the breast cancer cells. (biomedcentral.com)
While BRCA2 expression is involved in cell cycle checkpoints and DNA repair, the mechanisms of cell cycle-dependent regulation of BRCA2 gene expression remains elusive. (biomedcentral.com)
An integrative model of breast cancer research is needed to determine the impact and mechanisms of action of endocrine disruptors at different WOS. (biomedcentral.com)
Investigation of cancers caused by xenoestrogens may elucidate yet unknown mechanisms also valuable for oncology and the development of new therapies. (biomedcentral.com)

The study identified 2 genes known to contribute to tumor progression and 8 known to be present in tumor cells but which have unknown functions. (frontiersin.org)

For this reason, mitochondrial carrier gene expression needs tight regulation. (cancerindex.org)
How Might DNA Methylation Affect Gene Regulation? (scoutconnection.com)

Development and Optimization of a Machine-Learning Prediction Model for Acute Desquamation After Breast Radiation Therapy in the Multicenter REQUITE Cohort. (westminster.ac.uk)
Our aim was to identify microRNAs targeting DNA repair machinery, through Affymetrix GeneChip miRNA Arrays, in a cohort of BRCA-related and sporadic breast cancers. (oncotarget.com)
Pathway enrichment analysis was performed to identify potential target genes to be analyzed in the validation step in an independent cohort. (oncotarget.com)

However, erroneous repair of DSBs can lead to chromosomal rearrangements and loss of heterozygosity, which in turn can also cause cancer and cell death. (springeropen.com)
Allelic methylation is functionally equivalent to a mutation in that loss of activity of the second allele arising from a mutation, loss of heterozygosity or a second methylation event will inactivate the gene. (biomedcentral.com)

Loss of BRCA2 function has been shown to lead to centrosome amplification, chromosomal rearrangement, aneuploidy, and reduced efficiency of homologous recombination-mediated double-strand break repair. (biomedcentral.com)

In 1999, genetic variations of CHEK2 were found to correspond to inherited cancer susceptibility. (wikipedia.org)

These results demonstrate that in some cases of breast cancer, low-level promoter methylation of BRCA1 occurs in normal tissues of the body and is associated with the development of BRCA1 -like breast cancer. (biomedcentral.com)

The contributions of any single genetic variation or mutation in a population depend on its frequency and penetrance as well as tissue-specific functionality. (hindawi.com)
Other contributors to genetic susceptibility, for example, polymorphisms, may have a higher relative contribution to risk, but their lower penetrance makes identification more difficult. (hindawi.com)

Thus, a precise characterization of KMT2A-r and the fusion partner genes, especially in CKs, is of interest for managing AML. (cancerindex.org)
Traditional methods for tumor characterization are tumor-type specific and include assays such as immunohistochemistry (IHC), in situ hybridization (ISH), quantitative PCR (qPCR), Sanger sequencing and gene signature microarrays [ 1 - 8 ]. (oncotarget.com)

The CHEK2 gene is located on the long (q) arm of chromosome 22 at position 12.1. (wikipedia.org)
Table 1 provides a summary outline of the gene symbols, chromosomal locations, radiation sensitivity characteristics, immunodeficiencies, chromosome breakage characteristics, and major cancer risk for each of these disorders. (medscape.com)

Predictive identification of exonic splicing enhancers in human genes. (xenbase.org)
Advances in high-throughput technologies and their involvement in the 'omics' of cancer have made possible the identification of hundreds of biomarkers and the development of predictive and prognostic platforms that model the management of cancer from evidence-based medicine to precision medicine. (ecancer.org)

a value of RHR less than 1 indicated elevated ovarian cancer risk. (escholarship.org)

Cancer Ther 2009;7:174-87. (who.int)

Studies show that a CHEK2 1100delC corresponds to a two-fold increased risk of breast cancer and a 10-fold increased risk of breast cancer in males. (wikipedia.org)
The risk of developing cervical cancer is closely related to sexual behaviour of both the woman and her male partner. (who.int)
Multicentre case-control studies clearly demonstrated a cervical cancer risk associated with infection with a variety of human papillomaviruses (HPV) other than types 16 and 18. (who.int)
The risk for leukemia, lymphoma, adenocarcinoma, and other cancers is increased 5-fold to 8-fold. (medscape.com)
Individuals carrying a mutation in the breast cancer 1, early onset gene ( BRCA1 ) are at increased risk of breast or ovarian cancer and thus are candidates for risk reduction strategies such as oophorectomy and mastectomy. (jci.org)
This study provides insight into the frequency of the variant detected in this area and provides evidence of an increased risk of pancreatic and breast cancer, useful for genetic counseling and surveillance programs. (bvsalud.org)
The Lyda Hill Cancer Prevention Center provides cancer risk assessment, screening and diagnostic services. (mdanderson.org)
A family history of breast cancer has long been recognised as a significant risk factor for breast cancer. (bmj.com)
Increasingly regional genetics departments are called upon to help clarify guidelines for referral of women with a family history of breast cancer for genetic testing and to clarify breast cancer risk for women seeking early mammographic screening. (bmj.com)
This paper represents the current consensus guidelines from the UK Cancer Family Study Group and discusses some of the difficulties surrounding genetic risk estimation. (bmj.com)
Breast screening policies in such women vary widely across the country, particularly with regard to level of risk at which screening is deemed appropriate, the age at first screen, screening interval, type of screening, route of access to screening or genetics clinics, and the collection of outcome data. (bmj.com)
Fanconi anemia, breast and embryonal cancer risk revisited. (uri.edu)
It is therefore highly relevant to find effective strategies to disclose information from the genetic investigation to healthy relatives at risk. (cdc.gov)
Informing relatives at risk enables equitable access to pre-test genetic counselling and a possibility for them to make an informed decision about genetic testing as well as prevention. (cdc.gov)
There is ongoing debate about whether physicians should screen for 3 hereditary conditions: Lynch syndrome (at greater risk for colon cancer), hereditary breast and ovarian cancer, and familial hypercholesterolemia (at greater risk for early heart disease and stroke). (cdc.gov)
Additional MR analysis indicated that causal effects between SS and cancers were not mediated by the well-accepted risk factors of cancers. (biomedcentral.com)
Birçok di er kanserde oldu u gibi over kanserlerinde deileri ya ,en önemli risk faktörlerinde biri kabul edilmektedir. (yumurtalikkanseritedavisiankara.com)
The influence of environmental chemicals on breast cancer risk may be greater during several windows of susceptibility (WOS) in a woman's life, including prenatal development, puberty, pregnancy, and the menopausal transition. (biomedcentral.com)
Despite the plausible heightened mechanistic influences of environmental chemicals on breast cancer risk during time periods of change in the mammary gland's structure and function, most human studies of environmental chemicals are not focused on specific WOS. (biomedcentral.com)
This article reviews studies conducted over the past few decades that have specifically addressed the effect of environmental chemicals and metals on breast cancer risk during at least one of these WOS. (biomedcentral.com)
In addition to summarizing the broader evidence-base specific to WOS, we include discussion of the NIH-funded Breast Cancer and the Environment Research Program (BCERP) which included population-based and basic science research focused on specific WOS to evaluate associations between breast cancer risk and particular classes of endocrine-disrupting chemicals-including polycyclic aromatic hydrocarbons, perfluorinated compounds, polybrominated diphenyl ethers, and phenols-and metals. (biomedcentral.com)
In 2003, the National Institute for Environmental Health Sciences (NIEHS) initiated the Breast Cancer and the Environment Research Program (BCERP) with support from the National Cancer Institute (NCI) to specifically examine whether environmental exposures during the pubertal WOS affect the timing of puberty, a risk factor for breast cancer. (biomedcentral.com)
The results of our data mining show (a) a significant correlation between exposure to xenoestrogens and increased, gender-related, cancer risk and (b) a need to re-evaluate agents so far defined as endocrine disruptors, as they are also key molecules in carcinogenesis. (biomedcentral.com)
Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. (westminster.ac.uk)
Mendelian randomisation study of smoking exposure in relation to breast cancer risk. (westminster.ac.uk)
the accuracy of five cervical cancer screening tests and cancer risk: a multisite case-control study in Br J Cancer 2008;98:1574-81. (who.int)
ER-, progesterone receptor-, and HER2-negative) cases could therefore be helpful to confirm the association of this locus with breast cancer risk. (escholarship.org)
Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. (escholarship.org)
This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects. (escholarship.org)

Genetic testing encompasses a broad range of laboratory tests performed to analyze DNA, RNA, chromosomes, proteins, and certain metabolites using biochemical, cytogenetic, or molecular methods or a combination of these methods. (cdc.gov)
We used different statistical methods to identify three gene sets associated with disease free survival. (biomedcentral.com)
Methods A next-generation sequencing (NGS) panel was created for the human TRPV1 gene and in addition, for the leukotriene receptors BLT1 and BLT2 recently described to modulate TRPV1 mediated sensitisation processes rendering the coding genes LTB4R and LTB4R2 important co-players in pharmacogenetic approaches involving TRPV1. (researchgate.net)

Cancer incidence monitoring in developed countries is relatively accurate. (biomedcentral.com)
Although total cancer incidence (number of new cases diagnosed in a year) is divided roughly equally between men and women, the types of cancer are not. (healthandenvironment.org)
In the US, the incidence of cancer varies by state. (healthandenvironment.org)
While the incidence and mortality of all cancers combined is decreasing, specific cancers, including cancers among children, are on the rise. (healthandenvironment.org)

This report provides CLIAC recommendations for good laboratory practices for ensuring the quality of molecular genetic testing for heritable diseases and conditions. (cdc.gov)
These recommendations are intended for laboratories that perform molecular genetic testing for heritable diseases and conditions and for medical and public health professionals who evaluate laboratory practices and policies to improve the quality of molecular genetic laboratory services. (cdc.gov)
As the number of molecular genetic tests performed for patient testing has steadily increased, so has the number of laboratories that perform molecular genetic testing for heritable diseases and conditions ( 2,3 ). (cdc.gov)
This article will provide an overview of genomics developments that are currently relevant to patient care: genomics and infectious diseases, genomics and breast cancer, and genomics and medications. (nursingworld.org)
If you happen to carry a gene or genes associated with a whole range of diseases, you may be refused unemployment and health insurance. (i-sis.org.uk)
Latin America (LATAM) is a region characterised by fragmented healthcare, high rates of poverty and disparities to access to a basic standard of care not only for cancer but also for other complex diseases. (ecancer.org)
Cancer is an assortment of more than 100 types of related diseases all characterized by uncontrolled cell growth. (healthandenvironment.org)
Breast cancer has been one of the diseases most extensively studied with microarrays. (biomedcentral.com)
My research interests are in the molecular etiology of these diseases and understanding how key genetic events contribute to their onset and progression. (dukecancerinstitute.org)
I consider my specialty to be in the area of using human breast and ovarian cancer as the primary and only authentic model system to understand these diseases. (dukecancerinstitute.org)
In the realm of public health genomics, knowing your family history and use of appropriate genetic testing can also reduce morbidity and mortality from chronic diseases such as BRCA1/2 associated hereditary breast/ovarian cancer, Lynch syndrome and familial hypercholesterolemia. (cdc.gov)

Significant differences in survival were revealed when comparison was made with developing countries, for people with cancers that can be successfully treated by chemotherapy (malignant lymphomas, leukaemia, testicular tumours) and modest differences for neoplasms that can be cured by early detection and surgical intervention. (who.int)
Several studies have investigated the potential connection between SS and different cancers, among which the association between SS and lymphomas was mostly studied. (biomedcentral.com)

One potential mechanism of BRCA2 involvement in breast cancer progression may be through deregulation of the BRCA2 gene expression. (biomedcentral.com)

Transfers of a single gene, a complete metabolic pathway 10 , whole chromosomes 11 or even cases of the integration of almost complete genomes from bacterial endosymbionts into their eukaryotic hosts 12 have been described. (nature.com)

Human Molecular Genetics, 14, 693-701. (uri.edu)

Anatomy18

Organisms1

Diseases39

Chemicals and Drugs53

Analytical, Diagnostic and Therapeutic Techniques and Equipment62

Psychiatry and Psychology4

Phenomena and Processes77

Disciplines and Occupations3

Anthropology, Education, Sociology and Social Phenomena1

Information Science9

Named Groups5

Health Care31

Geographicals4

Mutations61

BRCA1 or BRCA23

Variants23

Predisposition6

Endometrial cancer15

Tumors17

Clinical17

Mutation carriers5

Majority of breast cancers1

Colorectal3

Loci3

Frequently mutated1

Alterations8

Defects3

Metastatic Breast Cancer2

Outcomes4

Somatic1

Pathways2

Carriers3

Lung3

Bone marrow failure1

Exon2

TP531

Tumor suppressor4

Patients30

Biology6

Genomic instability2

Mechanisms5

Contribute to tumor progression1

Regulation2

Cohort3

Loss of heterozygos2

Double-strand break repair1

Variations1

Methylation1

Penetrance2

Characterization2

Chromosome2

Identification2

Ovarian cancer risk1

Ther1

Risk29

Methods3

Incidence4

Diseases11

Lymphomas2

Progression1

Chromosomes1

Human Molecula1