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Article

The BRCA1 c.4096+1G>A Is a Founder Variant Which Originated in Ancient Times.

International journal of molecular sciences - 24 Oct 2023

Aretini Paolo, Presciuttini Silvano, Pastore Aldo, Galli Alvaro, Panepinto Sara, Tancredi Mariella, Ghilli Matteo, Guglielmi Chiara, Sidoti Diletta, Congregati Caterina, Caligo Maria Adelaide

Abstract excerpt

Approximately 30-50% of hereditary breast and ovarian cancer (HBOC) is due to the presence of germline pathogenic variants in the BRCA1 (OMIM 113705) and BRCA2 (OMIM 600185) onco-suppressor genes, which are involved in DNA damage response. Women who carry pathogenic BRCA1 variants are particularly likely to develop breast cancer (BC) and ovarian cancer (OC), with a 45-79 percent and 39-48 percent chance,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37958491
DOI: 10.3390/ijms242115507
PMCID: PMC10648645

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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