Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S387insFs
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BRCA1

NM_007294.4:p.S387insFs

Associated Papers

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population.

Mariya T et al.

Human Genome Variation, 2026

41565638 (PubMed )
Supplement: 41439_2026_335_MOESM1_ESM.xlsx › SupplementaryTable1

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.

Nesic K et al.

Molecular Cancer, 2024

The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population.

Idogawa M et al.

Journal of Human Genetics, 2024

BRCA1 secondary splice-site mutations drive exon-skipping and PARP inhibitor resistance.

Nesic K et al.

Medrxiv : the Preprint Server for Health Sciences, 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-s002.xlsx › BRCA1

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 › Total_BRCA1___BRCA2
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