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

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

doi:10.1007/s10620-022-07733-z

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

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. SchusterA. Hollebecque, V. Boige, E. Cauchin, D. Malka, O. Caron, E. Rouleau

Résultats de recherche: Contribution à un journal › Article › Revue par des pairs

Résumé

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.

langue originale	Anglais
Pages (de - à)	1525-1528
Nombre de pages	4
journal	Digestive Diseases and Sciences
Volume	68
Numéro de publication	4
Les DOIs	https://doi.org/10.1007/s10620-022-07733-z
état	Publié - 1 avr. 2023

Accès au document

10.1007/s10620-022-07733-z

Autres fichiers et liens

Lien vers la publication dans Scopus

Contient cette citation

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., ... Rouleau, E. (2023). The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients. Digestive Diseases and Sciences, 68(4), 1525-1528. https://doi.org/10.1007/s10620-022-07733-z

@article{6485222b26c34674a8f0db9cc3353267,

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

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.",

keywords = "Germline DNA, Hereditary cancer, Homologous recombination pathway, Next generation sequencing, Pancreatic cancer",

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

note = "Publisher Copyright: {\textcopyright} 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.",

year = "2023",

month = apr,

day = "1",

doi = "10.1007/s10620-022-07733-z",

language = "English",

volume = "68",

pages = "1525--1528",

journal = "Digestive Diseases and Sciences",

issn = "0163-2116",

number = "4",

}

Baz, M, Gondran-Teiller, V, Bressac, B, Cabaret, O, Fievet, A, Dimaria, M, Goldbarg, V, Colas, C, Bonnet-Dupeyron, MN, Tinat, J, Lebrun, M, Mari, V, Limacher, JM, Corsini, C, Ginglinger, E, Saurin, JC, Brahimi, A, Rouzier, C, Giraud, S, Schuster, H, Hollebecque, A, Boige, V, Cauchin, E, Malka, D, Caron, O & Rouleau, E 2023, 'The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients', Digestive Diseases and Sciences, VOL. 68, Numéro 4, p. 1525-1528. https://doi.org/10.1007/s10620-022-07733-z

TY - JOUR

T1 - The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients

AU - Baz, M.

AU - Gondran-Teiller, V.

AU - Bressac, B.

AU - Cabaret, O.

AU - Fievet, A.

AU - Dimaria, M.

AU - Goldbarg, V.

AU - Colas, C.

AU - Bonnet-Dupeyron, M. N.

AU - Tinat, J.

AU - Lebrun, M.

AU - Mari, V.

AU - Limacher, J. M.

AU - Corsini, C.

AU - Ginglinger, E.

AU - Saurin, J. C.

AU - Brahimi, A.

AU - Rouzier, C.

AU - Giraud, S.

AU - Schuster, H.

AU - Hollebecque, A.

AU - Boige, V.

AU - Cauchin, E.

AU - Malka, D.

AU - Caron, O.

AU - Rouleau, E.

PY - 2023/4/1

Y1 - 2023/4/1

N2 - 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.

AB - 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.

KW - Germline DNA

KW - Hereditary cancer

KW - Homologous recombination pathway

KW - Next generation sequencing

KW - Pancreatic cancer

UR - http://www.scopus.com/inward/record.url?scp=85140969354&partnerID=8YFLogxK

U2 - 10.1007/s10620-022-07733-z

DO - 10.1007/s10620-022-07733-z

M3 - Article

C2 - 36315333

AN - SCOPUS:85140969354

SN - 0163-2116

VL - 68

SP - 1525

EP - 1528

JO - Digestive Diseases and Sciences

JF - Digestive Diseases and Sciences

IS - 4

ER -