Identification of germline pathogenic variants in DNA damage repair genes by a next-generation sequencing multigene panel in BRCAX patients.

CONCLUSIONS: We identified that 8% of BRCAX patients were carriers of pathogenic variants in genes other than BRCA1 and BRCA2. Therefore, wide gene panels, including clinically actionable genes, should be routinely used in the screening of HBOC in our population. We observed differences from other studies in the prevalence of mutated genes, most likely due to differences in the selection criteria of the probands and in the population analyzed. The high incidence of deleterious variant detection in PALB2 supports its significant role in breast cancer susceptibility and reinforces its inclusion in the HBOC genetic diagnostic process.
PMID: 31786208 [PubMed - as supplied by publisher]

Source: Clinical Biochemistry - November 27, 2019 Category: Biochemistry Authors: Rodríguez-Balada M, Roig B, Melé M, Albacar C, Serrano S, Salvat M, Querol M, Borràs J, Martorell L, Gumà J Tags: Clin Biochem Source Type: research