Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.I332fs
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BRCA2

NM_000059.4:p.I332fs

Associated Papers

Comprehensive genomic profiling of breast cancer reveals mutational landscape and the PEEKABOO model: a population-specific assessment tool for predicting germline mutations.

Wu J et al.

Journal of Translational Medicine, 2025

41188832 (PubMed )
Supplement: 12967_2025_7068_MOESM2_ESM.xlsx › Sheet1

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

Impact of germline variants on breast and ovarian cancer risk in Japanese women: an original cohort study and meta-analysis.

Yazaki S et al.

Ebiomedicine, 2025

40403695 (PubMed )
Supplement: mmc1.xlsx › Table_S6

Whole genome and transcriptome analysis of pancreatic acinar cell carcinoma elucidates mechanisms of homologous recombination deficiency and unravels novel relevant fusion events.

Delgado-de la Mora J et al.

Pathology, Research and Practice, 2025

The response of pancreatic acinar cell carcinoma to platinum and olaparib therapy in a germline BRCA2 variant carrier: case report and literature review.

Matsubayashi H et al.

Familial Cancer, 2024

Comprehensive Molecular Profiling of NPM1-Mutated Acute Myeloid Leukemia Using RNAseq Approach.

Petiti J et al.

International Journal of Molecular Sciences, 2024

38612443 (PubMed )
Supplement: ijms-25-03631-s001.zip › Supplementary.Tables.xlsx › Supplementary_Table.S2

Germline Mutations in 32 Cancer Susceptibility Genes by Next-Generation Sequencing among Breast Cancer Patients.

Yang Y et al.

Oncology, 2024

BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy.

Oh JH et al.

Journal of Pathology and Translational Medicine, 2023

37981726 (PubMed )
Supplement: jptm-2023-10-22-Supplementary-Table-S1.pdf

Prospective clinical sequencing of 1016 Chinese prostate cancer patients: uncovering genomic characterization and race disparity.

Wei Y et al.

Molecular Oncology, 2023

37584393 (PubMed )
Supplement: MOL2-17-2183-s002.xlsx › Table_S6

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s006.xlsx › BRCA2

Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.

Han H et al.

International Journal of Molecular Sciences, 2022

36362213 (PubMed )
Supplement: ijms-23-13426-s001.zip › Table_S2_BRCA2_mutation_profile.xlsx › Mutation_Mapper

Clinicopathological Characterization of Double Heterozygosity for BRCA1 and BRCA2 Variants in Korean Breast Cancer Patients.

Bang YJ et al.

Cancer Research and Treatment, 2022

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA2

A Population-Based Analysis of BRCA1/2 Genes and Associated Breast and Ovarian Cancer Risk in Korean Patients: A Multicenter Cohort Study.

Park KS et al.

Cancers, 2021

34063308 (PubMed )
Supplement: cancers-13-02192-s001.zip › cancers-1174339-supplementary.xlsx › Table_S4

Clinical Characteristics and Exploratory Genomic Analyses of Germline BRCA1 or BRCA2 Mutations in Breast Cancer.

Park S et al.

Molecular Cancer Research : Mcr, 2020

Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

Bhaskaran SP et al.

International Journal of Cancer, 2019

30702160 (PubMed )
Supplement: IJC-145-962-s005.xlsx › dbBRCA2

Response of germline BRCA2-mutated advanced pancreatic acinar cell carcinoma to olaparib: A case report.

Li M et al.

Medicine, 2018

Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.

Hwang SM et al.

Cancer Research and Treatment, 2018

Characteristics of BRCA1/2 mutations carriers including large genomic rearrangements in high risk breast cancer patients.

Park B et al.

Breast Cancer Research and Treatment, 2017

Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Kim YC et al.

Oncotarget, 2016

26848529 (PubMed )
Supplement: oncotarget-07-9600-s001.pdf

The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

Kang E et al.

Breast Cancer Research and Treatment, 2015

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L et al.

European Journal of Human Genetics : Ejhg, 2014

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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."