Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1722fs
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BRCA2

NM_000059.4:p.S1722fs

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

AcornHRD: an HRD algorithm highly associated with anthracycline-based neoadjuvant chemotherapy in breast cancer in China.

Pan JN et al.

European Journal of Medical Research, 2024

39014466 (PubMed )
Supplement: 40001_2024_1936_MOESM1_ESM.xlsx › Supplementary_Table4

Niraparib for the Treatment of Metastatic NSCLC in a Patient With BRCA2 Germinal Mutation: A Case Report.

Inno A et al.

Clinical Lung Cancer, 2024

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

Chen C et al.

Cell Discovery, 2023

38114467 (PubMed )
Supplement: 41421_2023_614_MOESM2_ESM.xlsx › Table_S3

Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese.

Wei B et al.

Cancer Medicine, 2023

37930190 (PubMed )
Supplement: CAM4-12-21219-s001.xls › Supplementary_Table_3

Genomic profile of Chinese patients with endometrial carcinoma.

Li J et al.

Bmc Cancer, 2023

Diverse genetic spectrum among patients who met the criteria of hereditary breast, ovarian and pancreatic cancer syndrome.

Lin PH et al.

Journal of Gynecologic Oncology, 2023

Prevalence of Tumor Genomic Alterations in Homologous Recombination Repair Genes Among Taiwanese Breast Cancers.

Huang CC et al.

Annals of Surgical Oncology, 2022

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V et al.

European Journal of Human Genetics : Ejhg, 2022

34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1

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

35186721 (PubMed )
Supplement: DataSheet_2.xlsx › all_varants_in_21_genes

Prevalence of BRCA1/BRCA2 pathogenic variation in Chinese Han population.

Dong H et al.

Journal of Medical Genetics, 2021

Genetic alterations and their therapeutic implications in epithelial ovarian cancer.

Lapke N et al.

Bmc Cancer, 2021

33947352 (PubMed )
Supplement: 12885_2021_8233_MOESM5_ESM.xlsx › Additional_file_5

Characteristics of BRCA1/2 pathogenic germline mutations in chinese NSCLC patients and a comparison with HBOC.

Xu Z et al.

Hereditary Cancer in Clinical Practice, 2021

Prevalence and reclassification of BRCA1 and BRCA2 variants in a large, unselected Chinese Han breast cancer cohort.

Liu Y et al.

Journal of Hematology & Oncology, 2021

Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes from a dataset of 3,552 Japanese whole genomes (3.5KJPNv2).

Tokunaga H et al.

Plos One, 2021

Genomic alterations in tumor tissue and ctDNA from Chinese pancreatic cancer patients.

Xiong A et al.

American Journal of Cancer Research, 2021

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

Shen L et al.

Frontiers in Oncology, 2021

Clinical characteristics and prognostic implications of BRCA-associated tumors in males: a pan-tumor survey.

Sun P et al.

Bmc Cancer, 2020

33054725 (PubMed )
Supplement: 12885_2020_7481_MOESM4_ESM.xlsx › Sheet1

The contribution of hereditary cancer-related germline mutations to lung cancer susceptibility.

Liu M et al.

Translational Lung Cancer Research, 2020

BRCA1/2 mutation status in patients with metachronous breast and ovarian malignancies: clues towards the implementation of genetic counseling.

Chao A et al.

Journal of Gynecologic Oncology, 2020

The BRCA2 mutation status shapes the immune phenotype of prostate cancer.

Jenzer M et al.

Cancer Immunology, Immunotherapy : Cii, 2019

31549213 (PubMed )
Supplement: 262_2019_2393_MOESM1_ESM.pdf

Comprehensive analysis of serum tumor markers and BRCA1/2 germline mutations in Chinese ovarian cancer patients.

Deng H et al.

Molecular Genetics & Genomic Medicine, 2019

The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Sung PL et al.

Plos One, 2017

Prevalence and clinical significance of BRCA1/2 germline and somatic mutations in Taiwanese patients with ovarian cancer.

Chao A et al.

Oncotarget, 2016

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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."