Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.V1794_K1795insFs
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BRCA2

NM_000059.4:p.V1794_K1795insFs

Associated Papers

Hereditary ovarian cancer.

Jurgiel WA et al.

Discover Oncology, 2026

CA125 Serum Levels in BRCA1/BRCA2 Pathogenic Sequence Variant Carriers as an Ovarian Cancer Screening Tool: A Longitudinal Study.

Madorsky Feldman D et al.

The Israel Medical Association Journal : Imaj, 2025

Breast cancer diagnosed after age 70 years in Israeli BRCA1/BRCA2 pathogenic sequence variant carriers: a single institution experience.

Bufman H et al.

Breast Cancer Research and Treatment, 2024

Using Portuguese BRCA pathogenic variation as a model to study the impact of human admixture on human health.

Andaluz S et al.

Bmc Genomics, 2024

38671360 (PubMed )
Supplement: 12864_2024_10311_MOESM2_ESM.xlsx › BRCA1

Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Gervas P et al.

Bulletin of Experimental Biology and Medicine, 2024

The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants.

Laish I et al.

Cancer, 2024

Methylation of promoter region of BRCA1 gene versus pathogenic variants of gene: risk factor or clinical marker of breast cancer.

Lobanova O et al.

Breast Cancer Research and Treatment, 2022

Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.

Ossa Gomez CA et al.

Jco Global Oncology, 2022

Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland.

Złowocka-Perłowska E et al.

Hereditary Cancer in Clinical Practice, 2022

Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

Vidra R et al.

International Journal of Environmental Research and Public Health, 2022

Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer.

McNevin CS et al.

Cancers, 2021

Differences in Ovarian and Other Cancers Risks by Population and BRCA Mutation Location.

Sekine M et al.

Genes, 2021

Familial Breast Cancer: Disease Related Gene Mutations and Screening Strategies for Chinese Population.

Shen L et al.

Frontiers in Oncology, 2021

Genetic testing in Poland and Ukraine: should comprehensive germline testing of BRCA1 and BRCA2 be recommended for women with breast and ovarian cancer?

Nguyen-Dumont T et al.

Genetics Research, 2020

Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Incorvaia L et al.

Cancers, 2020

Randomised trial of population-based BRCA testing in Ashkenazi Jews: long-term outcomes.

Manchanda R et al.

Bjog : an International Journal of Obstetrics and Gynaecology, 2020

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers.

Hawsawi YM et al.

Molecular Genetics & Genomic Medicine, 2019

The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.

Oh M et al.

The Prostate, 2019

A Pragmatic Testing-Eligibility Framework for Population Mutation Screening: The Example of BRCA1/2.

Best AF et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2019

Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Lowery MA et al.

Journal of the National Cancer Institute, 2018

Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.

Hoyer J et al.

Bmc Cancer, 2018

Heterogeneity of germline variants in high risk breast and ovarian cancer susceptibility genes in India.

Sharma-Oates A et al.

Precision Clinical Medicine, 2018

Somatic mutations in early onset luminal breast cancer.

Encinas G et al.

Oncotarget, 2018

29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_Table2

Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women.

Patel S et al.

American Journal of Obstetrics and Gynecology, 2018

No Evidence for the Pathogenicity of the BRCA2 c.6937 + 594T>G Deep Intronic Variant: A Case-Control Analysis.

Dutil J et al.

Genetic Testing and Molecular Biomarkers, 2018

A comprehensive analysis of BRCA2 gene: focus on mechanistic aspects of its functions, spectrum of deleterious mutations, and therapeutic strategies targeting BRCA2-deficient tumors.

Shailani A et al.

Medical Oncology (northwood, London, England), 2018

SYK expression level distinguishes control from BRCA1-mutated lymphocytes.

Zahavi T et al.

Cancer Management and Research, 2018

BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study.

Kowalik A et al.

Plos One, 2018

Overall survival and clinical characteristics of BRCA mutation carriers with stage I/II pancreatic cancer.

Golan T et al.

British Journal of Cancer, 2017

Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

Maistro S et al.

Bmc Cancer, 2016

27914478 (PubMed )
Supplement: 12885_2016_2966_MOESM1_ESM.zip › Additional_tables.xlsx › TableS2

Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?

Agranat S et al.

The Breast Journal, 2016

Do founder mutations characteristic of some cancer sites also predispose to pancreatic cancer?

Lener MR et al.

International Journal of Cancer, 2016

Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.

Petersen AH et al.

European Journal of Human Genetics : Ejhg, 2016

Detection of Human Papillomavirus Genotypes and Major BRCA Mutations in Familial Breast Cancer.

Mohtasebi P et al.

Monoclonal Antibodies in Immunodiagnosis and Immunotherapy, 2016

Increased sensitivity of BRCA defective triple negative breast tumors to plumbagin through induction of DNA Double Strand Breaks (DSB).

Nair RS et al.

Scientific Reports, 2016

Prophylactic salpingo-oophorectomy in BRCA1 mutation carriers and postoperative incidence of peritoneal and breast cancers.

Menkiszak J et al.

Journal of Ovarian Research, 2016

Clinical features and outcomes of germline mutation BRCA1-linked versus sporadic ovarian cancer patients.

Synowiec A et al.

Hereditary Cancer in Clinical Practice, 2016

Prognostic factors in Polish patients with BRCA1-dependent ovarian cancer.

Szatkowski W et al.

Hereditary Cancer in Clinical Practice, 2016

DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Mahmood AS et al.

Plos One, 2016

Comparison of effectiveness of treatment of patients with sporadic and germline BRCA1-related ovarian cancer.

Szatkowski W et al.

Ginekologia Polska, 2016

Recurrent mutations of BRCA1 and BRCA2 in Poland: an update.

Szwiec M et al.

Clinical Genetics, 2015

Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.

Manchanda R et al.

Journal of the National Cancer Institute, 2015

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Strom CM et al.

Plos One, 2015

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

Minucci A et al.

Expert Review of Molecular Diagnostics, 2015

BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia.

Tihomirova L et al.

Advances in Medical Sciences, 2014

Absence of BRCA/FMR1 correlations in women with ovarian cancers.

Gleicher N et al.

Plos One, 2014

Increased proliferative background in healthy women with BRCA1/2 haploinsufficiency is associated with high risk for breast cancer.

Nisman B et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2013

BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.

Safra T et al.

Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2013

A high-throughput functional complementation assay for classification of BRCA1 missense variants.

Bouwman P et al.

Cancer Discovery, 2013

Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

Dobričić J et al.

Journal of Human Genetics, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."