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Five Italian Families with Two Mutations in BRCA Genes.

Genes - 3 Dec 2020

Vietri Maria Teresa, Caliendo Gemma, D'Elia Giovanna, Resse Marianna, Casamassimi Amelia, Minucci Pellegrino Biagio, Dello Ioio Concetta, Cioffi Michele, Molinari Anna Maria

Abstract excerpt

Double heterozygosity (DH) in BRCA1 and BRCA2 genes and double mutation (DM) in BRCA1 or BRCA2 are extremely rare events in the general population, and few cases have been reported worldwide so far. Here, we describe five probands, all women, with breast and/or ovarian cancer and their families. Particularly, we identified two probands with DH in the BRCA1/2 genes with a frequency of 0.3% and three probands with...

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Identifiers

PMID: 33287145
DOI: 10.3390/genes11121451
PMCID: PMC7761639

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