학술논문
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients
Document Type
Original Paper
Author
Baz, M.; Gondran-Teiller, V.; Bressac, B.; Cabaret, O.; Fievet, A.; Dimaria, M.; Goldbarg, V.; Colas, C.; Bonnet-Dupeyron, M. N.; Tinat, J.; Lebrun, M.; Mari, V.; Limacher, J. M.; Corsini, C.; Ginglinger, E.; Saurin, J. C.; Brahimi, A.; Rouzier, C.; Giraud, S.; Schuster, H.; Hollebecque, A.; Boige, V.; Cauchin, E.; Malka, D.; Caron, O.; Rouleau, E.
Source
Digestive Diseases and Sciences. 68(4):1525-1528
Subject
Language
English
ISSN
0163-2116
1573-2568
1573-2568
Abstract
Germline DNA alterations affecting homologous recombination pathway genes have been associated with pancreatic cancer (PC) risk. BRCA2 is the most studied gene and affects the management of PC patients and their families. Even though recent reports have suggested a similar role of germline ATM pathogenic variants (PV) in familial PC, there is still a disagreement between experts on how it could affect patient management given the lack of proper PC risk estimates. We retrospectively analyzed the germline data of 257 PC patients among whom nearly 50% were sporadic cases. We showed similar frequencies of BRCA2 (4.9%) and ATM (4.4%) PV or likely pathogenic variants, which were not related to familial history. Based on our findings and that of the literature, we suggest including ATM gene among the panel of genes analyzed in PC patients pending the publication of prospective studies.