Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1286fs
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BRCA1

NM_007294.4:p.S1286fs

Associated Papers

Comprehensive genomic profiling of Taiwanese triple-negative breast cancer samples with medium- and large-sized sequencing panels: A comparative study implicating treatment allocations.

Huang CC et al.

Biomedical Reports, 2025

40831628 (PubMed )
Supplement: Supplementary_Data2.pdf

Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.

Flores-Lagunes LL et al.

Familial Cancer, 2025

40960710 (PubMed )
Supplement: 10689_2025_490_MOESM1_ESM.xlsx › Table_S2

Comprehensive genomic profiling of Taiwanese triple-negative breast cancer with a large targeted sequencing panel.

Huang CC et al.

Journal of the Chinese Medical Association : Jcma, 2025

Mutation Spectrum Comparison between Benign Breast Lesion Cohort, Unselected Cancer Cohort and High-Risk Breast Cancer Cohort.

Kwong A et al.

Cancers, 2024

39272924 (PubMed )
Supplement: cancers-16-03066-s001.zip › cancers-3162067-SI.pdf

Age-specific breast and ovarian cancer risks associated with germline BRCA1 or BRCA2 pathogenic variants - an Asian study of 572 families.

Ho WK et al.

The Lancet Regional Health. Western Pacific, 2024

38333895 (PubMed )
Supplement: mmc1.xlsx › Table_S5

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 › BRCA1

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 › BRCA1

Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Herzog JS et al.

Npj Breast Cancer, 2021

34413315 (PubMed )
Supplement: 41523_2021_317_MOESM1_ESM.xlsx › Table_S2_PVs__n_236_

Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.

Solano AR et al.

Cancers, 2021

BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Chian J et al.

Frontiers in Molecular Biosciences, 2021

Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling.

Faldoni FLC et al.

Cancers, 2020

Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Quezada Urban R et al.

Cancers, 2018

30262796 (PubMed )
Supplement: cancers-10-00361-s001.pdf

BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

Alvarez C et al.

Oncotarget, 2017

Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

Cruz-Correa M et al.

Hereditary Cancer in Clinical Practice, 2017

Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Wong ESY et al.

Npj Genomic Medicine, 2016

Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

Wong ES et al.

Plos One, 2015

26221963 (PubMed )
Supplement: pone.0134408.s003.xlsx › Sheet1
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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."