Germ line mutation rate. Medical search. Frequent questions

Germline mutation is distinct from somatic mutation. (wikipedia.org)
A mutation that arises soon after fertilization, but before germline and somatic cells are determined, then the mutation will be present in a large proportion of the individual's cell with no bias towards germline or somatic cells, this is also called a gonosomal mutation. (wikipedia.org)
A mutation that arises later in zygote development will be present in a small subset of either somatic or germline cells, but not both. (wikipedia.org)
In mice and humans the spontaneous mutation rate in the male germ line is significantly lower than in somatic cells. (wikipedia.org)
Furthermore, although the spontaneous mutation rate in the male germ line increases with age, the rate of increase is lower than in somatic tissues. (wikipedia.org)
Similar to somatic mutations, germline mutations can be caused by exposure to harmful substances, which damage the DNA of germ cells. (wikipedia.org)
the major difference between germline mutations and somatic mutations is that germ cells are not exposed to UV radiation, and thus not often directly mutated in this manner. (wikipedia.org)
These studies reveal that recurrent somatic mutations occur in only a handful of genes, with an overall mutational burden of roughly 1-2 per Mb. (springer.com)
New somatic mutations arise and are selected if they confer a selective fitness advantage (e.g., proliferation, survival, etc.) to a founding clone in the context of a pre-existing genomic landscape (i.e., germline variants). (nature.com)
12 ] mapped non-synonymous somatic mutations of Breast Invasive Carcinoma and Colon Adenocarcinoma Tumor samples to their corresponding protein domains, in order to extract domains with significant mutation frequency. (biomedcentral.com)
Somatic mutations in cancer cells affect various genomic elements disrupting important cell functions. (biomedcentral.com)
Cancer somatic mutations in binding sites of selected transcription factors have been found under positive selection. (biomedcentral.com)
Frequencies of synonymous and non-synonymous substitutions allow studying selection of cancer somatic mutations in protein-coding regions [ 11 ]. (biomedcentral.com)
Research shows that despite widespread acceptance of the importance of testing, actual testing rates lag far behind best-practice recommendations for both biomarker testing for somatic (acquired) mutations and other biomarkers, and for germline genetic testing for identifying germline (inherited) mutations (also known as variants). (cancercare.org)
A large phase II trial, called ARIEL2, showed that patients who had both germline and somatic mutations had a response. (ajmc.com)
Now, in some of these trials, we didn't know whether they were necessarily somatic mutations or not. (ajmc.com)
One was to look for the somatic mutations which, as I mentioned, happen in about 7% of patients. (ajmc.com)
This usually results from a spontaneous somatic mutation in the unaffected APC gene of a single cell in a patient with the FAP syndrome. (medscape.com)
In genetically normal individuals, with normal germline genes, this necessitates a rare combination of events, such that at least 2 somatic mutations must occur in both alleles of a single tumor suppressor gene, in this case the APC gene. (medscape.com)
In FAP syndrome patients, one APC germline gene is already mutated in every cell in the body (barring a rare reverse somatic mutation in some cells), and, therefore, only one new somatic mutation is required in the opposite APC gene for the tumor to develop. (medscape.com)
These changes, which are called somatic mutations, are not inherited. (medlineplus.gov)
Somatic mutations in the TP53 gene occur in almost half of all ovarian cancers. (medlineplus.gov)
Somatic mutations in many other genes have also been found in ovarian cancer cells. (medlineplus.gov)

Although most of our variety comes from reshuffling of genes from our parents, new mutations are the ultimate source from which new variation is drawn. (uncommondescent.com)
Gene signatures derived from the genes containing functionally germline variants significantly distinguished recurred and non-recurred patients in two ER+ breast cancer independent cohorts ( n = 200 and 295, P = 1.4 × 10 −3 ). (nature.com)
Family history remains one of the major risk factors that contribute to cancer, and recent studies have identified several genes whose germline mutations are associated with cancer. (nature.com)
To evaluate the role of mitochondrial genes, stem cell-specific genes and DNA repair genes in cancer development, their mutation frequency was determined via further analysis. (biomedcentral.com)
In particular, mutations in DNA binding sites recognized by transcription factors can alter regulator binding affinities and, consequently, expression of target genes. (biomedcentral.com)
Mutation rates were significantly lower in genomic regions marked by H3K4me1, a histone modification found in the gene bodies of actively expressed and evolutionarily conserved genes in plants. (biorxiv.org)
We observed conservation in rice for PDS5C, a cohesion cofactor involved in the homology-directed repair pathway that in A. thaliana binds to H3K4me1 via its Tudor domain and localizes to regions exhibiting reduced mutation rates: coding regions, essential genes, constitutively expressed genes, and genes under stronger purifying selection, mirroring mutation biases observed in rice as well. (biorxiv.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)
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)
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)
Several lines of evidence suggest that these changes were adaptive: (i) copy-number changes reached high frequency or were fixed in a short time, (ii) many independent populations harbored CNVs spanning the same genes, and (iii) larger average size of CNVs in adapting populations relative to spontaneous CNVs. (biomedcentral.com)
Due to the high rates of origin of spontaneous duplications and deletions, copy-number changes containing the same genes arose readily in independent populations. (biomedcentral.com)
Cancers occur when a buildup of mutations in critical genes-those that control cell growth and division or repair damaged DNA-allow cells to grow and divide uncontrollably to form a tumor. (medlineplus.gov)

The number of genetic mutations we collect in our DNA over time may predict how long we will live, according to a study. (newsweek.com)
Young adults who acquire fewer genetic mutations over time lived five years longer than those who acquired them more rapidly. (neurosciencenews.com)
Differences in the rate that genetic mutations accumulate in healthy young adults could help predict remaining lifespan in both sexes and the remaining years of fertility in women, according to University of Utah Health scientists. (neurosciencenews.com)
Older parents, for instance, tend to pass on more genetic mutations through their germline (egg and sperm) to their children than younger parents. (neurosciencenews.com)
Average child has 60 genetic mutations? (uncommondescent.com)
The following section deals with genetic Mutations in GRIN1 impair this process and lead to abnormal functioning of NMDA receptors, resulting in epilepsy and associated developmental differences. (rsv-nellingen.de)
Laboratory studies are performed as indicated clinically to identify genetic mutations associated with TSC, monitor anticonvulsant treatment, identify idiosyncratic or dose-related adverse effects, and identify or monitor underlying renal or pulmonary disease. (medscape.com)

The progressive increase in the mutation rate with age in the male germ line may be a result of a decline in the accuracy of the repair of DNA damages, or of an increase in DNA replication errors. (wikipedia.org)
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. (ox.ac.uk)

If a mutation was found in the child's DNA but not their parents', the team surmised this mutation must have been emerged when the sperm and egg came together in the uterus. (newsweek.com)
Mutations found in the child's blood DNA that were not present in either parent's blood DNA were then inferred to have originated in the parents' germlines. (neurosciencenews.com)

Germline mutations can be caused by a variety of endogenous (internal) and exogenous (external) factors, and can occur throughout zygote development. (wikipedia.org)
Germline mutations can occur before fertilization and during various stages of zygote development. (wikipedia.org)
This damage is rarely repaired imperfectly, but due to the high rate of germ cell division, can occur frequently. (wikipedia.org)
Errors in maternal ovum also occur, but at a lower rate than in paternal sperm. (wikipedia.org)
The types of mutations that occur also tend to vary between the sexes. (wikipedia.org)
A germline mutation can also occur due to exogenous factors. (wikipedia.org)
The scientists found that mutations began to occur at an accelerating rate during or soon after puberty, suggesting that aging begins in our teens. (neurosciencenews.com)
Mutations that occur in sperm or egg cells will be 'new' mutations not seen in our parents. (uncommondescent.com)
Statistical analysis was performed to identify candidate domains in which mutations occur with high statistical significance. (biomedcentral.com)
Desmoid tumors occur at a rate of 10-15% in patients with FAP, an autosomal inherited disease caused by germline mutations in the APC gene. (medscape.com)

In addition, the inherited germline variants from these gene signatures were predominately enriched in T cell function, antigen presentation, and cytokine interactions, likely impairing the adaptive and innate immune response thus favoring a pro-tumorigenic environment. (nature.com)
8 Genetic tests based on these highly penetrant gene mutations have shown their usefulness, but they can explain only a small fraction (5-10%) of patients. (nature.com)
Multiple endocrine neoplasia syndrome type 1 (MEN-1), loss-of-function germline mutations in the tumor suppressor gene MEN1 increase the risk of developing pituitary, parathyroid and pancreatic islet tumors, and less commonly thymic carcinoids, lipomas and benign adrenocortical tumors. (intechopen.com)
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)
Various testing modalities, the source of testing samples, and the multiplicity of gene mutations currently identifiable by testing, were contributing factors in this often-confusing overlap. (cancercare.org)
The rates of spontaneous gene duplication and deletion are extraordinarily high and speak to the enormous potential of these structural variants for generating new adaptive variability [ 5 - 10 ]. (biomedcentral.com)
We have previously established that the spontaneous, genome-wide rate of gene duplication in C. elegans is two orders of magnitude higher than the point mutation rate [ 8 ]. (biomedcentral.com)
Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl CpG binding protein 2 ( MeCP2 ) gene. (neurology.org)
One hundred sixteen patients with classical and atypical RTT were studied for mutations of the MeCP2 gene by using DHPLC and direct sequencing. (neurology.org)
Causative mutations in the MeCP2 gene were identified in 63% of patients, representing a total of 30 different mutations. (neurology.org)
The authors found 17 novel mutations, including a complex gene rearrangement found in one individual involving two deletions and a duplication. (neurology.org)
This patient series confirms the high frequency of MeCP2 gene mutations causative of RTT in females and provides data concerning the molecular basis for clinical variability (mutation type and position and X-inactivation patterns). (neurology.org)
Initially, six different mutations in the MeCP2 gene were described in both sporadic and familial cases of RTT. (neurology.org)
Gardner syndrome was regarded as a separate disease until the identification of the APC (adenomatous polyposis coli) gene, at which point mutations in the APC gene were recognized as the underlying cause of both Gardner syndrome and FAP. (medscape.com)
[ 3 ] Desmoid tumors show biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). (medscape.com)
In desmoid tumors, 1 of the 2 mutations usually occurs distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). (medscape.com)
These different roles may correspond to specific sites of missense mutations in the APC gene. (medscape.com)
FAP results from a germline mutation in the APC gene. (medscape.com)
These cancers are described as hereditary and are associated with inherited gene mutations. (medlineplus.gov)

In the case of multiple endocrine neoplasia type 2 (MEN 2), gain-of-function germline mutations clustered in specific codons of the RET proto-oncogene increase the risk of developing medullary thyroid carcinoma (MTC), phaeochromocytoma and parathyroid tumors. (intechopen.com)
Although surveillance increases the rate of resectability, carriers of a p16-Leiden mutation develop aggressive tumors. (nih.gov)
We knew about the germline mutation, but we knew that there were patients in whom the tumors had the mutation but the germline was revealed as negative. (ajmc.com)
They were wild type for BRCA in the germline setting, but the tumors actually were BRCA mutated. (ajmc.com)
Additionally, evidence also exists for a genetic predisposition to desmoid tumors in FAP, independent of the APC mutation. (medscape.com)
Independent predictors of increased desmoid risk in one study were said to be (1) germline mutation distal to codon 1399, (2) any family history of gastrointestinal disease, and (3) a strong family history of desmoid tumors. (medscape.com)
Desmoid tumors are associated with a biallelic APC mutation in the affected tissue. (medscape.com)

Herein we selected a Mendelian genetics form of familial cancer such as hereditary tumor syndromic endocrine neoplasias caused by highly penetrant germline mutations leading to pheochromocytoma-paraganglioma syndromes. (intechopen.com)

As we get older, these mechanisms become less efficient and more mutations accumulate. (neurosciencenews.com)
Therefore, as mutations accumulate, each new mutation has a greater and greater average fitness deleterious effect. (uncommondescent.com)
For many transcription factors, including multiple members of FOX, HOX, and NR families, we show that human cancers accumulate fewer mutations than expected by chance that increase or decrease affinity of predicted binding sites. (biomedcentral.com)

Observed mutation rates in humans appear higher in male than female gametes and often increase with paternal age. (ox.ac.uk)

Studies examining the relationship between mutation type, X-inactivation status, and severity of clinical presentation found significant differences in clinical presentation between different types of mutations. (neurology.org)

A recent nationwide study evaluated the utilization of germline BRCA testing among people with ovarian cancer and a subset of breast cancers associated with HBOC that are eligible for BRCA testing according to clinical guidelines, including breast cancer diagnosed before aged 45 years in women, triple-negative breast cancer diagnosed before aged 60 years in women, or breast cancer in men. (cdc.gov)

The father's sperm, on the other hand, undergoes continuous replication throughout his lifetime, resulting in many small point mutations that result from errors in replication. (wikipedia.org)

Epistasis - The different mutations that affect the same trait often interact, and when this happens, it is called epistasis. (uncommondescent.com)

Professor Joao Pedro de Magalhaes of the Institute of Ageing and Chronic Disease at the University of Liverpool who did not work on the paper told Newsweek: "this study fits the hypothesis that accumulation of DNA damage and mutations contributes to aging, although of course correlation does not imply causation, so it is not conclusive. (newsweek.com)
The discovery of a "maternal age effect" by a team of Penn State scientists that could be used to predict the accumulation of mitochondrial DNA mutations in maternal egg cells -- and the transmission of these mutations to children -- could provide valuable insights for genetic counseling. (eurekalert.org)
The multidisciplinary research team set out to learn whether maternal age is important in the accumulation of mitochondrial DNA (mtDNA) mutations, both in the mother and in the child as a result of transmission. (eurekalert.org)
After adjusting for age, the researchers determined that individuals with the slowest rates of mutation accumulation were likely to live about five years longer than those who accumulated mutations more rapidly. (neurosciencenews.com)
To study mechanisms determining intragenomic mutation rate variability, we reanalyzed 43,483 de novo germline single base substitutions in 1,504 fast neutron irradiated mutation accumulation lines in Kitaake rice. (biorxiv.org)

Many recurrent mutations have prognostic value and show promise in aiding decisions regarding treatment stratification. (springer.com)

In 57 women (24.9%) we detected a pathogenic mutation, with a higher frequency (29.7%) in the group manifesting cancer before 60 years. (biomedcentral.com)
Feline leukemia virus (FeLV) is a common pathogenic infectious disease responsible for high mortality rates for domestic cats, particularly before development of effective vaccines in the 1980s ( 1 ). (cdc.gov)

2023. Evolution of the germline mutation rate across vertebrates. (reptarium.cz)

Rates of spontaneous mutation. (harvard.edu)

100 kb) arise de novo in the general population have been conservatively estimated to be around 1.2×10 −2 CNVs per germ line transmission [ 3 ]. (biomedcentral.com)

Cawthon said the DNA in our bodies is regularly damaged, and as we age our ability to fix these problems wanes and potentially harmful mutations collect. (newsweek.com)
Typically, various mechanisms repair this damage and prevent potentially harmful mutations, according to lead and corresponding author Richard Cawthon, M.D., Ph.D., a U of U Health research associate professor of human genetics. (neurosciencenews.com)
We propose that these FGFR2 mutations, although harmful to embryonic development, are paradoxically enriched because they confer a selective advantage to the spermatogonial cells in which they arise. (ox.ac.uk)

Germline variants such as BRCA1/2 play an important role in tumorigenesis and clinical outcomes of cancer patients. (nature.com)
So far, TNBC has been mainly associated with mutations in BRCA1. (biomedcentral.com)
Deleterious BRCA1 mutations occurred in 14.8% of TNBC patients. (biomedcentral.com)
Furthermore, patients with non- BRCA1/2 mutations were not significantly younger than mutation negative women ( p = 0.3341). (biomedcentral.com)
Most importantly, among the 57 mutation carriers, ten (17.5%) would be missed using current clinical testing criteria including five (8%) with BRCA1/2 mutations. (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)
A phase 2 trial was also recently presented at an oncology meeting - NEOTALA - which focused on another PARP inhibitor, Talzenna (talazoparib), for the treatment of patients with germline BRCA1/2 mutation-positive, HER2-negative breast cancer before undergoing breast surgery. (curetoday.com)
That is around the type of complete response rate that we typically see with combination chemotherapy for triple-negative breast cancer with a BRCA1/2 mutation, so I think this is really provocative data," Telli said. (curetoday.com)

Prior to the clas- sification work, the technical guidance for classification of germ cell mutagens was prepared. (cdc.gov)

Thus, the total mutation rate was about 1.1 × 10^-5 per locus per generation. (harvard.edu)

This study represents a method to explore protein domains with significant mutation frequencies, using whole exome sequencing data. (biomedcentral.com)

These mutations commonly include single base pair substitutions, deletions, and insertions. (wikipedia.org)

Variation in genome-wide mutation rates within and between human families. (kameshwarmahadev.com)

A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, become sperm and ova). (wikipedia.org)
Mutations in these cells are the only mutations that can be passed on to offspring, when either a mutated sperm or oocyte come together to form a zygote. (wikipedia.org)
If the mutation arises in either the sperm or the oocyte before development, then the mutation will be present in every cell in the individual's body. (wikipedia.org)
Endogenous mutations are more prominent in sperm than in ova. (wikipedia.org)
In theory, the father was favoured as a source of mutations because of " the additional number of times that the genome needs to be copied to make a sperm, as opposed to an egg. (uncommondescent.com)
Finally, dividing by 62, the estimated number of cell divisions prior to a sperm (Drost and Lee 1995), gives µb = 1.8 × 10^-10 mutations per b per cell division. (harvard.edu)

The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. (medlineplus.gov)
In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells. (medlineplus.gov)
African American race was associated with lower rates of BRCA test utilization among patients with ovarian cancer. (cdc.gov)

The study found greater rates of the mitochondrial DNA variants in children born to older mothers, as well as in the mothers themselves. (eurekalert.org)
The challenge remains in using these inherited germline variants to predict clinical outcomes of cancer patient population. (nature.com)
Finally, we found that recurred patients possessed a higher rate of germline variants. (nature.com)
Thus far, it is unclear to what extent germline variants affect tumorigenesis. (nature.com)
9 Here we reasoned that the collective impact of germline variants in cancer patients might largely determine tumorigenesis, evolution, and even clinical outcomes. (nature.com)

However, Cawthon and colleagues theorized that these mutations could be a biomarker for rates of aging and potentially predict lifespan in younger individuals as well as fertility in women. (neurosciencenews.com)
Clinical trials in the breast cancer space have been focused on treatment options with high response rates and fewer side effects, potentially changing the landscape of breast cancer treatment. (curetoday.com)

8 Subsequent studies have identified MeCP2 mutations in approximately 65% to 80% of patients with classic RTT, although familial cases and clinically atypical cases show a lower incidence of MeCP2 mutations. (neurology.org)

A deleterious mutation may be much more or less deleterious depending on the absence or presence of other mutations. (uncommondescent.com)
Deleterious BRCA2 mutations occurred in 5.7% of patients, all but one (c.1813dupA) being unique. (biomedcentral.com)
The presence of FeLV genetic sequences in the germline results in recombination between exogenous FeLV and FeLV-A during domestic cat infections and in emergence of more deleterious subgroups (i.e. (cdc.gov)

To avoid statistical bias we account for mutation signatures of different cancer types. (biomedcentral.com)
thus, mutation signatures of different cancer types should be properly taken into account to avoid statistical bias. (biomedcentral.com)

With rates of biomarker testing and genetic testing for an inherited mutation at sub-optimal levels for numerous patient populations, patients are not benefiting from biomarker-directed care or not learning about their inherited cancer risk. (cancercare.org)

A surprise was the considerable variation in families, as to whether most mutations arose from the father or the mother. (uncommondescent.com)
Mutations are the ultimate source of genetic variation. (biorxiv.org)
Venn O, Turner I, Mathieson I, de Groot N, Bontrop R, McVean G. Strong male bias drives germline mutation rate variation in adaptation and population persistence in a draw. (kameshwarmahadev.com)

Within this cohort we compared the number of mutation carriers fulfilling clinical selection criteria with the total number of carriers identified. (biomedcentral.com)
Remarkably, neither of the ATM , RAD51D , CHEK2 and PALB2 mutation carriers had a family history. (biomedcentral.com)
Skewed X-inactivation patterns were found in two asymptomatic carriers of MeCP2 mutations and six girls diagnosed with either atypical or classical RTT. (neurology.org)

However, the researchers found no association between germline mutations and the risk of cancer. (newsweek.com)
Magalhaes said: "I was surprised that, although people with higher germline mutation rates have a higher mortality, this is not related to cancer. (newsweek.com)
Given that cancer is driven primarily by mutations, I would've thought that it would be one of the major factors at play here, but that doesn't seem to be the case. (newsweek.com)
These mutations cause more than 200 diseases and contribute to others such as diabetes, cancer, Parkinson's disease, and Alzheimer's disease. (eurekalert.org)
Hence, germline genomic information could be used for developing non-invasive genomic tests for predicting patients' outcomes in breast cancer. (nature.com)
A single normal cell randomly acquires a series of mutations that allows it to proliferate and to be transformed into a cancer cell (i.e., founding clone), which initiates tumor progression and recurrence. (nature.com)
Discriminating driver mutations from the ones that play no role in cancer is a severe bottleneck in elucidating molecular mechanisms underlying cancer development. (biomedcentral.com)
This article presents a comprehensive study to map mutations from 29 cancer types to both sequence- and structure-based domains. (biomedcentral.com)
Only some of the mutations in coding regions, and not all of them lead to cancer. (biomedcentral.com)
To this aim, some efforts have been made to study cancer mutations at the protein domain level. (biomedcentral.com)
Regions with high numbers of mutation for each cancer type were called hotspot. (biomedcentral.com)
A number of promoter mutations have been linked with an increased risk of cancer. (biomedcentral.com)
Cancer is a complex genetic disease caused by abnormal alteration (mutations) in DNA sequences that leads to dyregulation of normal cellular processes thereby driving tumor growth. (intechopen.com)
genetic testing for an inherited mutation" and "genetic testing for inherited cancer risk" were selected as consensus terms for tests used to identify germline (inherited) mutations. (cancercare.org)
Far too many patients across all cancer types are still missing out on essential tests for biomarkers and inherited mutations indicating cancer risk,' said Michelle Shiller, DO, AP/CP, MGP, Co-Medical Director of Genetics at Baylor Sammons Cancer Center and Staff Pathologist at Baylor University Medical Center. (cancercare.org)
Individuals with germline mutations in p16-Leiden have a lifetime risk of 15% to 20% of developing pancreatic cancer. (nih.gov)
Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). (medlineplus.gov)
Asian and Pacific Islander women have the lowest death rate from breast cancer. (msdmanuals.com)
Another recent study used population-based cancer registry data linked with genetic testing laboratory data to examine the prevalence of germline genetic testing among patients diagnosed with cancer in California and Georgia between 2013 and 2019. (cdc.gov)

A germline mutation often arises due to endogenous factors, like errors in cellular replication and oxidative damage. (wikipedia.org)
This is because spermatocytes go through a larger number of cell divisions throughout a male's life, resulting in more replication cycles that could result in a DNA mutation. (wikipedia.org)

Other FeLV subgroups (B, C, D, E, and T) arose after recombination or through mutation ( 3 ). (cdc.gov)

Studying healthy individuals gave the researchers a baseline for future studies of disease-causing mutations. (eurekalert.org)
Neither age of onset, contralateral disease nor family history were able to discern all mutation positive individuals. (biomedcentral.com)

Women in the top two thirds of mutations gave birth to fewer children than those in the bottom third. (newsweek.com)
Their study, believed to be the first of its kind, found that young adults who acquired fewer mutations over time lived about five years longer than those who acquired them more rapidly. (neurosciencenews.com)
Women with the highest mutation rates had significantly fewer live births than other women and were more likely to be younger when they gave birth to their last child. (neurosciencenews.com)

Mutations were identified in 72% of patients with classical RTT and one third of atypical cases studied (8 of 25). (neurology.org)
Then, we also started to look at this in patients who had multiple lines of prior therapy. (ajmc.com)
The drug olaparib, which is now approved for fourth-line therapy and beyond treatment of germline BRCA mutations, showed a response in patients who've had multiple lines of prior therapy. (ajmc.com)
I think that was influential in the FDA's decision to grant accelerated approval to olaparib in patients that carried a germline mutation and had 4 or more lines of therapy. (ajmc.com)
And if you look at what the expectation is for chemotherapy in the same lines of patients, it's more than 4 standard deviations away. (ajmc.com)
But we started to see patients who were wild-type for BRCA in the germline setting having responses. (ajmc.com)

Individuals who had collected more germline mutations, or those which could be passed on to their children, were found to have shorter lifespans. (newsweek.com)

PMID:18786442 mutations and the risk of esophageal squamous cell carcinoma. (who.int)
The United States Preventive Services Task Force (USPSTF) recommends primary care providers use available risk assessment tools to identify women at risk for BRCA mutations who should receive genetic counseling and, if indicated after counseling, genetic testing. (cdc.gov)

Higher mutation rates were also linked with being younger when giving birth to their last child, which the authors said may indicate a decline in fertility. (newsweek.com)

Advances in DNA technology have allowed exploration of the previously speculative role of molecular mutation that results in germ line mutations, most likely leading to early pregnancy loss. (cdc.gov)

We have previously shown that tumor founding clone mutations are able to predict tumor recurrence. (nature.com)

The researchers believe a similar mutation process is occurring both in the cells of the mothers' bodies and in their germ lines. (eurekalert.org)
Knowing that allowed the researchers to compare each first-generation parent to others of the same sex and estimate their rate of aging. (neurosciencenews.com)

Mutations in the amino-terminus were significantly correlated with a more severe clinical presentation compared with mutations closer to the carboxyl-terminus of MeCP2. (neurology.org)

In 2005, it was discovered that for cell lines that lacked BRCA, BRCA homozygous knockouts, when you gave those cells a PARP inhibitor, they had about a 1000-fold sensitivity for their cytotoxicity when they were administered. (ajmc.com)
Received 12 February 2009 of chemicals on germ cell mutagenicity. (cdc.gov)
ES-cell expansion of the line can be requested for an additional fee if the requester is off-site. (lu.se)

Germ line mutation may lead to infertility, adverse pregnancy outcomes, or heritable alterations expressed in future generations. (cdc.gov)

This suggests that the high rate of mutation was affecting their fertility. (neurosciencenews.com)
However, when it is diagnosed and treated early, the 5-year survival rate is high. (medlineplus.gov)

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