Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.S766fs
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BRCA1

NM_007294.4:p.S766fs

Associated Papers

Characterization and functional analysis of BRCA1 and BRCA2 variants in a cohort of 100 unselected patients undergoing germline screening.

Shi Q et al.

Translational Oncology, 2025

40664060 (PubMed )
Supplement: mmc4.xlsx › Clinvar_BRCA1

Human BRCA pathogenic variants were originated during recent human history.

Li J et al.

Life Science Alliance, 2022

35165121 (PubMed )
Supplement: LSA-2021-01263_TableS5.xlsx › BRCA1

BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

Kharel S et al.

The Journal of International Medical Research, 2022

35000471 (PubMed )
Supplement: sj-pdf-3-imr-10.1177_03000605211070757.pdf

Germline BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance associated with breast/ovarian cancer: a report from North India.

Mehta A et al.

Cancer Management and Research, 2018

Comprehensive profiling of metaplastic breast carcinomas reveals frequent overexpression of programmed death-ligand 1.

Joneja U et al.

Journal of Clinical Pathology, 2017

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

Papi L et al.

Breast Cancer Research and Treatment, 2009

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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."