Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.H1732fs
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BRCA1

NM_007294.4:p.H1732fs

Associated Papers

Tandem duplication and triplication in BRCA1: revisiting the large genomic rearrangements via optical genome mapping.

Allister BA et al.

Cancer Genetics, 2025

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-s001.xlsx › Pakistani

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

BRCA1 intronic Alu elements drive gene rearrangements and PARP inhibitor resistance.

Wang Y et al.

Nature Communications, 2019

31827092 (PubMed )
Supplement: 41467_2019_13530_MOESM1_ESM.pdf

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

Wong-Brown MW et al.

Breast Cancer Research and Treatment, 2015

Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

Wappenschmidt B et al.

Plos One, 2012

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