Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S3147fs
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BRCA2

NM_000059.4:p.S3147fs

Associated Papers

Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.

Al Ali AAAA et al.

Journal of Cancer Research and Clinical Oncology, 2025

40257527 (PubMed )
Supplement: 432_2025_6188_MOESM1_ESM.xlsx › Cancer_Cohort

DNA damage response mutations enhance the antitumor efficacy of ATR and PARP inhibitors in cholangiocarcinoma cell lines.

Lerksuthirat T et al.

Oncology Letters, 2025

39822940 (PubMed )
Supplement: Supplementary_Data3.xlsx › SiSP-K05

Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic.

Sinan H et al.

Jco Precision Oncology, 2025

Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

Rezaei M et al.

The Journal of Clinical Investigation, 2024

39545410 (PubMed )
Supplement: jci-134-170669-s068.xlsx › Supplemental_Table_2

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-s002.xlsx › BRCA2

Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Yao Q et al.

Frontiers in Oncology, 2022

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Variant_summary

Efficacy of Radium-223 in Bone-metastatic Castration-resistant Prostate Cancer with and Without Homologous Repair Gene Defects.

Isaacsson Velho P et al.

European Urology, 2019

Twenty Years of BRCA1 and BRCA2 Molecular Analysis at MMCI - Current Developments for the Classification of Variants.

Machackova E et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019

Evaluation of Recipients of Positive and Negative Secondary Findings Evaluations in a Hybrid CLIA-Research Sequencing Pilot.

Sapp JC et al.

American Journal of Human Genetics, 2018

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

Copson ER et al.

The Lancet. Oncology, 2018

29337092 (PubMed )
Supplement: mmc1.pdf

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

LaDuca H et al.

Plos One, 2017

28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table

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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