Germ-Line Mutation
Concept
Vocabulary Service
Overview
subject area of
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CDKN2AMutations in Multiple Primary Melanomas Journal Articles
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A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment Journal Articles
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Air pollution induces heritable DNA mutations Journal Articles
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An evaluation of germline mutations and reproductive impacts in fathead minnow (Pimephales promelas) exposed to contaminated sediment Journal Articles
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Application of Breast Cancer Risk Prediction Models in Clinical Practice Journal Articles
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Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study Journal Articles
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Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers Journal Articles
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Canadian Recommendations for Germline Genetic Testing of Patients with Breast Cancer: A Call to Action. Journal Articles
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Clinical effectiveness and safety of olaparib in BRCA-mutated, HER2-negative metastatic breast cancer in a real-world setting: final analysis of LUCY. Journal Articles
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Colorectal cancer in adolescents and young adults: Defining a growing threat Journal Articles
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Complement activity and complement regulatory gene mutations are associated with thrombosis in APS and CAPS Journal Articles
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Cowden Syndrome Journal Articles
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Cyclin E expression in breast cancer: predicting germline BRCA1 mutations, prognosis and response to treatment Journal Articles
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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features Journal Articles
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Dental abnormalities in individuals with pathogenic germline variation in DICER1 Journal Articles
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Double heterozygosity for germline mutations in BRCA1 and p53 in a woman with early onset breast cancer Journal Articles
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Factors affecting germline mutations in a hypervariable microsatellite: A comparative analysis of six species of swallows (Aves: Hirundinidae) Journal Articles
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Fumarate Hydratase–deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Journal Articles
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Gamma radiation-induced heritable mutations at repetitive DNA loci in out-bred mice Journal Articles
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Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation Journal Articles
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Genome-wide germline correlates of the epigenetic landscape of prostate cancer Journal Articles
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Germline BRCA mutation carriers are more likely to undergo cytoreductive surgery for relapsed, platinum sensitive, ovarian cancer. Journal Articles
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Germline BRCA1 Mutations and a Basal Epithelial Phenotype in Breast Cancer Journal Articles
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Germline HOXB13 p.Gly84Glu mutation and risk of colorectal cancer Journal Articles
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Germline Mutations and Variants in the Succinate Dehydrogenase Genes in Cowden and Cowden-like Syndromes Journal Articles
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Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma Journal Articles
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Germline variation in inflammation-related pathways and risk of Barrett's oesophagus and oesophageal adenocarcinoma Journal Articles
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Germline variation in the insulin-like growth factor pathway and risk of Barrett’s esophagus and esophageal adenocarcinoma Journal Articles
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Germline-mediated immunoediting sculpts breast cancer subtypes and metastatic proclivity Journal Articles
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Global issues and opportunities for optimized retinoblastoma care Journal Articles
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Glomeruloid microvascular proliferation is associated with p53 expression, germline BRCA1 mutations and an adverse outcome following breast cancer Journal Articles
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Hamartomatous polyposis syndromes Journal Articles
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Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2. Journal Articles
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Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma Journal Articles
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Incidence of endometrial cancer in BRCA mutation carriers. Journal Articles
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Induced minisatellite germline mutations in herring gulls (Larus argentatus) living near steel mills Journal Articles
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Influence of a contaminated fish diet on germline expanded‐simple‐tandem‐repeat mutation frequency in mice Journal Articles
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Is Uterine Papillary Serous Adenocarcinoma a Manifestation of the Hereditary Breast–Ovarian Cancer Syndrome? Journal Articles
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Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre Journal Articles
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Mainstream Tobacco Smoke Causes Paternal Germ-Line DNA Mutation Journal Articles
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Multiple Tumors in a Child with Germ-Line Mutations inTP53andPTEN Journal Articles
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Parity, breastfeeding, and the risk of early-onset breast cancer in women with a BRCA1 pathogenic variant. Journal Articles
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Pathogenic Germline Variants in 10,389 Adult Cancers Journal Articles
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Pediatric patients with pheochromocytoma and paraganglioma should have routine preoperative genetic testing for common susceptibility genes in addition to imaging to detect extra-adrenal and metastatic tumors Conferences
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Performance characteristics of a brief Family History Questionnaire to screen for Lynch syndrome in women with newly diagnosed endometrial cancer Journal Articles
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Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing Journal Articles
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Practice guidelines for BRCA1/2 tumour testing in ovarian cancer Journal Articles
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Prophylactic oophorectomy in Ontario. Journal Articles
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Reduction of Particulate Air Pollution Lowers the Risk of Heritable Mutations in Mice Journal Articles
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Risk factors for ovarian cancer and early-onset breast cancer in Mongolia. Journal Articles
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Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation Journal Articles
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Should platinum-based chemotherapy be preferred for germline BReast CAncer genes (BRCA) 1 and 2-mutated pancreatic ductal adenocarcinoma (PDAC) patients? A systematic review and meta-analysis Journal Articles
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Synaptic, transcriptional and chromatin genes disrupted in autism Journal Articles
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The Germline and Somatic Origins of Prostate Cancer Heterogeneity. Journal Articles
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The impact of prophylactic salpingo-oophorectomy on menopausal symptoms and sexual function in women who carry a BRCA mutation Journal Articles
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The incidence of pancreatic cancer in women with a BRCA1 or BRCA2 mutation. Journal Articles
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The mutational landscape of human somatic and germline cells Journal Articles