Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S1437delFs
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BRCA1

NM_007294.4:p.S1437delFs

Associated Papers

Genetic trends and common BRCA1/2 pathogenic sequence variants in black African and Indian breast cancer patients presenting at Inkosi Albert Luthuli Central Hospital, KwaZulu-Natal, South Africa.

Makhetha M et al.

South African Medical Journal = Suid-afrikaanse Tydskrif Vir Geneeskunde, 2024

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS2.xlsx › BRCA1

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Silvestri V et al.

Jama Oncology, 2020

Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.

Vaclová T et al.

Human Molecular Genetics, 2016

Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.

Benitez-Buelga C et al.

Oncotarget, 2016

27015555 (PubMed )
Supplement: oncotarget-07-25815-s001.pdf

DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.

Vaclová T et al.

Breast Cancer Research and Treatment, 2015

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