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Generation and characterization of induced pluripotent stem cells heterozygous for the Portuguese BRCA2 founder mutation.

Stem cell research - 1 May 2021

Silva Teresa P, Pereira Carolina A, Raposo Ana Cláudia, Oliveira Ana Rita, Arez Maria, Cabral Joaquim M S, Milagre Inês, Carmo-Fonseca Maria, Rocha Simão Teixeira da

Abstract excerpt

Women who inherit heterozygous mutations in the BRCA2 gene have an increased risk of developing cancer, mainly breast and ovarian tumors. A particular BRCA2 mutation (c.156_157insAlu) is exclusively found in families of Portuguese ancestry and is present in approximately 30% of all Portuguese families with hereditary breast and ovarian cancers. We report the generation and characterization of the first iPSC line...

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Identifiers

PMID: 34087993
DOI: 10.1016/j.scr.2021.102364

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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