Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.S1271*
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BRCA2

NM_000059.4:p.S1271*

Associated Papers

Germline mutational landscape in a large cohort of Indian breast cancer.

Peter J et al.

Bmc Cancer, 2025

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

Understanding the genetic epidemiology of hereditary breast cancer in India using whole genome data from 1029 healthy individuals.

Vatsyayan A et al.

Cancer Causes & Control : Ccc, 2025

Whole Exome Analysis to Select Targeted Therapies for Patients with Metastatic Breast Cancer - A Feasibility Study.

Jaeger BAS et al.

Geburtshilfe Und Frauenheilkunde, 2023

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-s010.xlsx › Asian_only

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_TableS5.xlsx › BRCA2

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

Park S et al.

Molecular Cancer Research : Mcr, 2020

Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes.

De Talhouet S et al.

Scientific Reports, 2020

32341426 (PubMed )
Supplement: 41598_2020_63759_MOESM1_ESM.pdf

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-s006.xlsx › BRCA2_ethnic_sources_

Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.

Bubien V et al.

Genes, Chromosomes & Cancer, 2017

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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."