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Digestive Diseases and Sciences
Published in: Digestive Diseases and Sciences 4/2023

31-10-2022 | Pancreatic Cancer | Original Article

The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

Authors: M. Baz, V. Gondran-Teiller, B. Bressac, O. Cabaret, A. Fievet, M. Dimaria, V. Goldbarg, C. Colas, M. N. Bonnet-Dupeyron, J. Tinat, M. Lebrun, V. Mari, J. M. Limacher, C. Corsini, E. Ginglinger, J. C. Saurin, A. Brahimi, C. Rouzier, S. Giraud, H. Schuster, A. Hollebecque, V. Boige, E. Cauchin, D. Malka, O. Caron, E. Rouleau

Published in: Digestive Diseases and Sciences | Issue 4/2023

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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.
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Metadata
Title
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients
Authors
M. Baz
V. Gondran-Teiller
B. Bressac
O. Cabaret
A. Fievet
M. Dimaria
V. Goldbarg
C. Colas
M. N. Bonnet-Dupeyron
J. Tinat
M. Lebrun
V. Mari
J. M. Limacher
C. Corsini
E. Ginglinger
J. C. Saurin
A. Brahimi
C. Rouzier
S. Giraud
H. Schuster
A. Hollebecque
V. Boige
E. Cauchin
D. Malka
O. Caron
E. Rouleau
Publication date
31-10-2022
Publisher
Springer US
Published in
Digestive Diseases and Sciences / Issue 4/2023
Print ISSN: 0163-2116
Electronic ISSN: 1573-2568
DOI
https://doi.org/10.1007/s10620-022-07733-z

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