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BRCA1 and BRCA2 whole cDNA analysis in unsolved hereditary breast/ovarian cancer patients.

Cancer genetics - 1 Nov 2021

Montalban Gemma, Bonache Sandra, Bach Vanessa, Gisbert-Beamud Alexandra, Tenés Anna, Moles-Fernández Alejandro, López-Fernández Adrià, Carrasco Estela, Balmaña Judith, Diez Orland, Gutiérrez-Enríquez Sara

Abstract excerpt

Germline pathogenic variants in BRCA1 and BRCA2 genes (BRCA1/2) explain an important fraction of hereditary breast/ovarian cancer (HBOC) cases. Genetic testing generally involves examining coding regions and exon/intron boundaries, thus the frequency of deleterious variants in non-coding regions is unknown. Here we analysed BRCA1/2 whole cDNA in a large cohort of 320 unsolved high-risk HBOC cases in order to...

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PMID: 34237702
DOI: 10.1016/j.cancergen.2021.06.003

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