Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1292_A1293delFs
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BRCA1

NM_007294.4:p.S1292_A1293delFs

Associated Papers

New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.

Gervas P et al.

Experimental Oncology, 2021

Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

Loughrey M et al.

Pathology, 2008

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

Machackova E et al.

Bmc Cancer, 2008

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

Foretova L et al.

Human Mutation, 2004

Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

Scott CL et al.

Human Genetics, 2003

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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."