Germline mutation - Wikipedia
Samuels ME, Friedman JM (April 2015). "Genetic mosaics and the germ line lineage". Genes. 6 (2): 216-37. doi:10.3390/ ... A germline mutation can also occur due to exogenous factors. Similar to somatic mutations, germline mutations can be caused by ... A germline mutation, or germinal mutation, is any detectable variation within germ cells (cells that, when fully developed, ... the major difference between germline mutations and somatic mutations is that germ cells are not exposed to UV radiation, and ...https://en.wikipedia.org/wiki/Germline_mutation
Germline Fitness-Based Scoring of Cancer Mutations | Genetics
Germline polymorphism density. Pp(Δs) is shown in units of Pp(0): blue squares are data and the red line is the theory curve ... A-C) Germline mutations (green). (A) Count scores cg show no significant effect. In contrast, scores for germline mutations are ... Germline mutations:. It is clear that the assumptions under which we can equate the scores Δs to germline fitness are not fully ... Furthermore, germline fitness scores for somatic mutations are more deleterious than for mutations in the null. (E) Δsg, P- ...http://www.genetics.org/content/188/2/383
Dienekes' Anthropology Blog: YHRD updated germline mutation rates
I found that Chandlers germ-line rates worked well in estimating TMRCA for a scottish clan of known historical origin. The ... YHRD has updated with new mutation rates for Y-STR loci. This is an invaluable resource, as it pools mutation rates from all ... The second most important issue was not counting multi-step mutations as multiple steps. Since about 5% of all mutations are ... For instance, I am J1, the only J1 with DYS578=7. According to the mutation rates, the rate is 0.00008. That rate is quite ...http://dienekes.blogspot.com/2009/06/yhrd-updated-germline-mutation-rates.html?m=0
Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer | SpringerLink
... with mutations in BRCA1 and BRCA2 genesaccounting for ~ 10% of patients. Multiple-gene sequencing has already entered clinical ... The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135(2):419-428. https://doi.org/ ... BRCA2 mutations were the most frequent, followed by ATM mutations, accounting for 6.9 and 2%, respectively, while mutations in ... Germline deleterious mutations in genes other than BRCA2 are infrequent in male breast cancer. ...https://link.springer.com/article/10.1007/s10549-018-4661-x
Germ-Line and Acquired Mutations of INI1 in Atypical Teratoid and Rhabdoid Tumors | Cancer Research
Furthermore, observation of germ-line mutations within the coding sequence of INI1, accompanied by somatic loss or mutation of ... Similarly, nine nonsense mutations were observed in five CNS tumors and four kidney tumors. Three of the germ-line mutations, ... The same heterozygous mutation was present in the constitutional DNA, consistent with a germ-line mutation. Sequence analysis ... the germ-line mutation in the patient with bilateral renal tumors was a 10-bp deletion, which results in a frameshift mutation ...http://cancerres.aacrjournals.org/content/59/1/74
The Molecular Anatomy of Spontaneous Germline Mutations in Human Testes
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science. 2003;301:643-646. [PubMed] ... Biological basis of germline mutation: comparisons of spontaneous germline mutation rates among drosophila, mouse, and human. ... any such early mutations will result in regions of the testis with high mutation frequencies. The germ cells of the growth ... If the testis mutation frequency is f, then f ÷ a is an upper bound for the mutation rate λ (this inequality ignores mutations ...http://pubmedcentralcanada.ca/pmcc/articles/PMC1951783/?lang=en-ca
Single-Molecule PCR Analysis of Germ Line Mutation Induction by Anticancer Drugs in Mice | Cancer Research
Detection of induced germline mutation: correlation and comparisons between traditional germline mutation assays, transgenic ... and pedigree-based ESTR mutation assay ( 41). In contrast with traditional germ line mutation assays, both techniques require ... Single-Molecule PCR Analysis of Germ Line Mutation Induction by Anticancer Drugs in Mice. Colin D. Glen, Andrew G. Smith and ... Spectrum of germ line ESTR mutations in controls and exposed male mice (Kruskal-Wallis test, P = 0.7909). The progenitor allele ...http://cancerres.aacrjournals.org/content/68/10/3630
Confirmation of the HOXB13 G84E Germline Mutation in Familial Prostate Cancer | Cancer Epidemiology, Biomarkers & Prevention
Enter multiple addresses on separate lines or separate them with commas.. You are going to email the following Confirmation of ... Conclusions: The germline mutation G84E of HOXB13 is a rare but recurrent mutation associated with elevated risk of prostate ... Confirmation of the HOXB13 G84E Germline Mutation in Familial Prostate Cancer. Joan P. Breyer, T. Grant Avritt, Kate M. ... Confirmation of the HOXB13 G84E Germline Mutation in Familial Prostate Cancer. Joan P. Breyer, T. Grant Avritt, Kate M. ...http://cebp.aacrjournals.org/content/21/8/1348
Investigating tissue specificity of cancer-causing germline mutations
... tissues and cell lines. Levering information from COSMIC, the Cancer Gene Census, and FANTOM5, two classes of genes that have ... Cancer is a disease that targets specific tissues, and in the case of cancer-causing germline mutations, it is perplexing that ... We have been studying cancer-causing germline mutations in the context of cell type-specific gene regulatory networks. Using a ... Investigating tissue specificity of cancer-causing germline mutations. Presented at the Genetics and Genomics 2013 Virtual ...https://www.labroots.com/webinar/investigating-tissue-specificity-of-cancer-causing-germline-mutations-56bbd398cd544
Whole Genome Sequencing in Autism Identifies Hotspots for De Novo Germline Mutation
Mutations that were not shared by MZ twins constitute somatic or cell line mutations (Koren et al, in press). ... Global Patterns of Germline Mutation. Germline de novo mutations (DNMs) displayed a remarkably non-random positioning in the ... Variation in Genome-Wide Rates of Germline Mutation. A total of 581 germline DNMs were detected in 10 MZ-twin pairs. A mean of ... genome sequences on identical twins allows us to readily distinguish germline mutation from somatic and cell line mutations. To ...http://pubmedcentralcanada.ca/pmcc/articles/PMC3712641/?lang=en-ca
Squamous Cell Carcinoma of the Pancreas in a Patient with Germline BRCA2 Mutation-Response to Neoadjuvant Radiochemotherapy
... this is the first case of primary squamous cell carcinoma of the pancreas in a patient with a known BRCA2 germ line mutation. ... squamous cell carcinomas of the pancreas have never been described in the context of germ line BRCA2 mutations or within the ... Here we report on a case of a 57-year-old female patient with known BRCA2 germline mutation presenting with primary squamous ... Its germline mutations cause a tumor predisposition referred to as hereditary breast and ovarian cancer syndrome (HBOC, OMIM # ...https://www.hindawi.com/journals/crionm/2014/860532/
Dienekes' Anthropology Blog: Review on germline mutation rate in humans (Campbell and Eichler 2013)
There are a number of lines of evidence to suggest that there may be differences between populations on mutation frequency.. 1 ... Properties and rates of germline mutations in humans Catarina D. Campbell, Evan E. EichlerSee Affiliations Summary All genetic ... This is a nice little review of the state of the art in germline mutation rate estimation in humans. This was previously ... This suggests there is a biological root cause for the appearance of germline mutations, if there are differences between ...http://dienekes.blogspot.com/2013/05/review-on-germline-mutation-rate-in.html
Developing new method for GBA sequencing and detection of germ-line or somatic point mutations, deletion/insertions, and...
Developing new method for GBA sequencing and detection of germ-line or somatic point mutations, deletion/insertions, and ... Because of the presence of the pseudogene, it is often difficult to identify mutations in the gene using traditional mutation ... Mutations in the GBA gene are the most common genetic cause of Parkinson s disease. This gene has a nearby pseudogene, which is ... Furthermore, specific mutations that occur as a result of a recombination between the gene and the pseudogene are often missed ...https://www.michaeljfox.org/foundation/grant-detail.php?grant_id=1561
Abstract 2033: Germline mutations in ETV6 confer risk of thrombocytopenia and acute lymphocytic leukemia. Vijai Joseph, Michael ... Enter multiple addresses on separate lines or separate them with commas.. You are going to email the following Abstract 2033: ... Germline mutations in ETV6 confer risk of thrombocytopenia and acute lymphocytic leukemia. [abstract]. In: Proceedings of the ... Germline mutations of transcription factors (e.g. PAX5, CEBPA, GATA2, RUNX1) have been associated with an inherited ...http://cancerres.aacrjournals.org/content/75/15_Supplement/2033
Germline Mutations in the BRCA2 Gene and Susceptibility to Hereditary Prostate Cancer. Ilir Agalliu, Erika M. Kwon, Daniel ... Enter multiple addresses on separate lines or separate them with commas.. You are going to email the following Germline ... Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 2003;72:1-12. ... The frequency of germline mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. ...http://clincancerres.aacrjournals.org/content/13/3/839
Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype |...
... in line with results in +/−Men1 mutant mice developing prostate cancer. CONCLUSION: The results and clinical course of disease ... Here we report a new germline missense mutation of Men1 in a German family with atypical tumor phenotype over three generations ... Multiple endocrine neoplasia type 1 associated with a new germline Men1 mutation in a family with atypical tumor phenotype. ... This novel mutation is located in a region of menin which is responsible for interactions with the transcription factor JunD. ...https://link.springer.com/article/10.1007%2FBF03401410
Two Percent of Finnish Prostate Cancer Patients Have a Germ-line Mutation in the Hormone-binding Domain of the Androgen...
Occasionally, germ-line mutations have been found, but a link between AR mutations and predisposition to human prostate cancer ... The germ-line origin of such mutations has been established in only two reports (27 , 28) , but the role of such mutations in ... and the R726L mutation was shared between the prostate cancer patients. Third, the R726L germ-line mutation in the coding ... Elo et al. (27) described an R726L germ-line mutation of the AR gene in a prostate cancer patient from Northern Finland. We ...http://cancerres.aacrjournals.org/content/60/22/6479
A Germ-Line p53 Mutation Accelerates Pulmonary Tumorigenesis: p53-independent Efficacy of Chemopreventive Agents Green Tea or...
Effect of a Germ-Line Mutation in the p53 Gene on Carcinogen-induced Mouse Lung Tumorigenesis.. To determine whether p53 ... Thus, the (UL53-3 × A/J)F1 p53 transgenic mouse seems to be an excellent model for human carriers of p53 germ-line mutations ( ... A Germ-Line p53 Mutation Accelerates Pulmonary Tumorigenesis: p53-independent Efficacy of Chemopreventive Agents Green Tea or ... A Germ-Line p53 Mutation Accelerates Pulmonary Tumorigenesis: p53-independent Efficacy of Chemopreventive Agents Green Tea or ...http://cancerres.aacrjournals.org/content/60/4/901.full
Pleomorphic Characteristics of a Germ-Line KIT Mutation in a Large Kindred with Gastrointestinal Stromal Tumors,...
... but germ-line KIT analysis was not performed (21) . Fewer than 20 individuals with germ-line KIT mutations have been described ... A germ-line mutation in KIT (W557R) was identified in an affected cousin, after which a large family meeting was held and ... Conclusions: A germ-line mutation in KIT resulting in an amino acid substitution in the juxtamembrane region is associated with ... Pedigree of family transmitting germ-line KIT mutation. Squares, male; circles, female; /, deceased. □ ○, unaffected; , ...http://clincancerres.aacrjournals.org/content/10/4/1250
Establishment and characterization of a breast epithelial cell line derived from a germline BRCA2 mutation carrier | Cancer...
Establishment and characterization of a breast epithelial cell line derived from a germline BRCA2 mutation carrier. Cheryl M. ... Establishment and characterization of a breast epithelial cell line derived from a germline BRCA2 mutation carrier ... Establishment and characterization of a breast epithelial cell line derived from a germline BRCA2 mutation carrier ... Establishment and characterization of a breast epithelial cell line derived from a germline BRCA2 mutation carrier ...http://cancerres.aacrjournals.org/content/65/9_Supplement/1432.2
Identification of Novel Germline hMLH1 Mutations Including a 22 kb Alu-mediated Deletion in Patients with Familial Colorectal...
High Prevalence of BRAF Gene Mutation in Papillary Thyroid Carcinomas and Thyroid Tumor Cell Lines ... Identification of Novel Germline hMLH1 Mutations Including a 22 kb Alu-mediated Deletion in Patients with Familial Colorectal ... Identification of Novel Germline hMLH1 Mutations Including a 22 kb Alu-mediated Deletion in Patients with Familial Colorectal ... Identification of Novel Germline hMLH1 Mutations Including a 22 kb Alu-mediated Deletion in Patients with Familial Colorectal ...http://cancerres.aacrjournals.org/content/56/24/5728.long
Abstract P2-07-05: Prevalence of germline BRCA1 and BRCA2 mutations in triple-negative breast cancer patients unselected for ... Enter multiple addresses on separate lines or separate them with commas.. You are going to email the following Abstract P2-07- ... Abstract P2-07-05: Prevalence of germline BRCA1 and BRCA2 mutations in triple-negative breast cancer patients unselected for ... Abstract P2-07-05: Prevalence of germline BRCA1 and BRCA2 mutations in triple-negative breast cancer patients unselected for ...http://cancerres.aacrjournals.org/content/73/24_Supplement/P2-07-05
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 2002; 346: 1459-66. ... Germline mutations. Among all presentations of HNP, 183 (30.6%) had a germline mutation in one of the SDHx genes (Supplementary ... Individuals with known germline mutation at presentation and families where germline mutation was present in one member were ... Familial gastrointestinal stromal tumors and germ-line mutations. N Engl J Med 2007; 357: 1054-6. ...http://cancerres.aacrjournals.org/content/69/8/3650
Germline - Wikipedia
... are due to newly arisen germline mutations. August Weismann Epigenetics Germ line development Germinal choice technology ... In germline cells, ROS are likely a significant cause of DNA damages that, upon DNA replication, lead to mutations. 8- ... The lower frequencies of mutation in germline cells compared to somatic cells appears to be due to more efficient DNA repair of ... According to this view mutations, recombinations and other genetic changes in the germline may be passed to offspring, but a ...https://en.wikipedia.org/wiki/Germline
Autoimmune lymphoproliferative syndrome - Wikipedia
Germline FASL mutations. 3 reported cases ALPS-CASP10: Caspase 10. Germline CASP10 mutation. 2% of patients ALPS-U: Undefined. ... First line therapies include corticosteroids (very active but toxic with chronic use), and IVIgG, which are not as effective as ... Germline FAS mutations. 70% of patients. Autosomal dominant. Dominant negative and haploinsufficient mutations described. ALPS- ... A primary accessory in diagnosis is defective in vitro Fas mediated apoptosis and somatic or germline mutation in ALPS ...https://en.wikipedia.org/wiki/Autoimmune_lymphoproliferative_syndrome