Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.G602fs
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BRCA2

NM_000059.4:p.G602fs

Associated Papers

Estimating Cancer Penetrance in Carriers of BRCA2 Pathogenic Variants Using Cancer-Specific Polygenic Scores.

Prassas B et al.

Cancer Medicine, 2025

40462315 (PubMed )
Supplement: CAM4-14-e70990-s001.xlsx › sTable_1

A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa.

Neumayer G et al.

Nature Communications, 2024

38992003 (PubMed )
Supplement: 41467_2024_49400_MOESM8_ESM.zip › Source_Data › Figure_4 › Figure_4H › Figure_4H.xlsx › CO1_fibroblasts

Comprehensive genomic profiling of breast cancers characterizes germline-somatic mutation interactions mediating therapeutic vulnerabilities.

Chen C et al.

Cell Discovery, 2023

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Shah JB et al.

Nature Communications, 2022

36344544 (PubMed )
Supplement: 41467_2022_34523_MOESM14_ESM.xlsx › TCGAOvarian_gBRCA

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883).

Hauke J et al.

Journal of Medical Genetics, 2022

33273034 (PubMed )
Supplement: jmedgenet-2020-107353supp001.pdf

Genomic Profiling Reveals the Molecular Landscape of Gastrointestinal Tract Cancers in Chinese Patients.

Zhu C et al.

Frontiers in Genetics, 2021

34594355 (PubMed )
Supplement: Table_2.xlsx › actionableAll

Establishment of a Molecular Tumor Board (MTB) and Uptake of Recommendations in a Community Setting.

VanderWalde A et al.

Journal of Personalized Medicine, 2020

Heritable Susceptibility to Breast Cancer among African-American Women in the Detroit Research on Cancer Survivors Study.

Purrington KS et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2020

Genetic and clinical landscape of breast cancers with germline BRCA1/2 variants.

Inagaki-Kawata Y et al.

Communications Biology, 2020

33067557 (PubMed )
Supplement: 42003_2020_1301_MOESM1_ESM.pdf

Consolidated BRCA1/2 Variant Interpretation by MH BRCA Correlates with Predicted PARP Inhibitor Efficacy Association by MH Guide.

Hirotsu Y et al.

International Journal of Molecular Sciences, 2020

32486089 (PubMed )
Supplement: ijms-21-03895-s001.zip › Supplemental_Table_2.xlsx › ENIGMA

Using next-generation sequencing to redefine BRCAness in triple-negative breast cancer.

Lin PH et al.

Cancer Science, 2020

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

A Multi-Center Study of BRCA1 and BRCA2 Germline Mutations in Mexican-Mestizo Breast Cancer Families Reveals Mutations Unreported in Latin American Population.

Millan Catalan O et al.

Cancers, 2019

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Whitworth J et al.

American Journal of Human Genetics, 2018

BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Maxwell KN et al.

Nature Communications, 2017

28831036 (PubMed )
Supplement: 41467_2017_388_MOESM2_ESM.xlsx › Supplementary_Data_1

Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.

Tanabe Y et al.

Molecular Cancer, 2016

27852271 (PubMed )
Supplement: 12943_2016_553_MOESM3_ESM.xlsx › Sheet1

Clinical Sequencing Contributes to a BRCA-Associated Cancer Rediagnosis That Guides an Effective Therapeutic Course.

Chapman JS et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2015

Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

Hansen TV et al.

Familial Cancer, 2011

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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."