RT info:eu-repo/semantics/article
T1 Profiling of the genetic features of patients with breast, ovarian, colorectal and extracolonic cancers: Association to CHEK2 and PALB2 germline mutations
A1 Infante, Mar
A1 Arranz-Ledo, Mónica
A1 Lastra, Enrique
A1 Olaverri, Amaya
A1 Ferreira, Raquel
A1 Orozco, Marta
A1 Hernández, Lara
A1 Martínez, Noemí
A1 Durán, Mercedes
AB Background and aimsCancer predisposition goes beyond BRCA and DNA Mismatch Repair (MMR) genes since multi-gene panel testing has become the routine diagnostic tool for hereditary cancer suspicion (HCS) cases. CHEK2 and PALB2 are some of the foremost-mutated non-BRCA/MMR actionable genes in families with a significant familial aggregation. Therefore, the purpose of this work is to unravel which tumours other than breast, ovary or colorectal display the patients.Materials and methodsWe have analysed 528 probands that meet the inclusion criteria for Hereditary Breast and Ovarian Cancer and Lynch Syndrome established by our Hereditary Cancer Regional Program with a customized 35 genes-panel by using Ion Torrent™ Technology.ResultsWe have identified pathogenic variants (PVs) in 61 families (1.55%), of which more than half (31 probands) harboured PVs in CHEK2 and PALB2 genes. Ours results reveal that not only were PVs CHEK2 and PALB2 carriers more likely to have family history of cancer not limited to breast, ovarian or colorectal cancers, but also they are prone to other extracolonic cancers, noteworthy endometrial and gastric cancers.ConclusionsMultigene panel testing improves the chance of finding PVs in actionable genes in families with HCS. In addition, the coexistence of variants should be recorded to implement a polygenic risk algorithm that might explain the missing heritability in the aforementioned families.
PB Elsevier
SN 0009-8981
YR 2024
FD 2024
LK https://uvadoc.uva.es/handle/10324/73289
UL https://uvadoc.uva.es/handle/10324/73289
LA spa
NO Clinica Chimica Acta 552 (2024) 117695
DS UVaDOC
RD 05-feb-2025