Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.K503*
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BRCA1

NM_007294.4:p.K503*

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

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

Idogawa M et al.

Journal of Human Genetics, 2024

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

Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

Nakamura S et al.

Breast Cancer (tokyo, Japan), 2015

[Present status and tasks for genetic testing and risk-reducing surgery in patients with hereditary breast and ovarian cancer].

Arai M et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2012

Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

Sugano K et al.

Cancer Science, 2008

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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."