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Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.

Genes - 29 Oct 2021

Bouras Ahmed, Leone Melanie, Bonadona Valerie, Lebrun Marine, Calender Alain, Boutry-Kryza Nadia

Abstract excerpt

Hereditary breast and ovarian cancer syndrome (HBOC) is an autosomal dominant cancer predisposition syndrome characterized by an increased risk of breast and ovarian cancers. Germline pathogenic variants in BRCA1 are found in about 7-10% of all familial breast cancers and 10% of ovarian cancers. Alu elements are the most abundant mobile DNA element in the human genome and are known to affect the human genome by...

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Source

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Identifiers

PMID: 34828342
DOI: 10.3390/genes12111736
PMCID: PMC8623961

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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