Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients

被引：6

作者：

Al Saati, Ayman ^{[1
,2
,3
]}

Vande Perre, Pierre ^{[1
,2
]}

Plenecassagnes, Julien ^{[4
]}

Gilhodes, Julia ^{[5
]}

Monselet, Nils ^{[5
]}

Cabarrou, Bastien ^{[5
]}

Lignon, Norbert ^{[6
]}

Filleron, Thomas ^{[5
]}

Telly, Dominique ^{[1
]}

Perello-Lestrade, Emilie ^{[1
]}

Feillel, Viviane ^{[6
]}

Staub, Anne ^{[6
]}

Martinez, Mathilde ^{[7
]}

Chipoulet, Edith ^{[6
]}

Collet, Gaelle ^{[6
]}

Thomas, Fabienne ^{[2
,3
,8
]}

Gladieff, Laurence ^{[6
]}

Toulas, Christine ^{[1
,2
]}

机构：

[1] IUCT Oncopole, Oncogenet Lab, Oncopole Claudius Regaud, Toulouse, France

[2] Ctr Rech Cancerol Toulouse, INSERM, DIAD, Toulouse, France

[3] Univ Toulouse, Univ Toulouse III Paul Sabatier, Toulouse, France

[4] IUCT Oncopole, Bioinformat Dept, Oncopole Claudius Regaud, Toulouse, France

[5] IUCT Oncopole, Biostat Dept, Oncopole Claudius Regaud, Toulouse, France

[6] IUCT Oncopole, Oncogenet Dept, Oncopole Claudius Regaud, Toulouse, France

[7] ONCORAD Clin Pasteur, Oncol Dept, Toulouse, France

[8] IUCT Oncopole, Pharmacol Dept, Oncopole Claudius Regaud, Toulouse, France

来源：

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | 2023年 / 24卷 / 18期

关键词：

male breast cancer predisposition; large multigene panel sequencing; MBC-specific mutated profile; new genes potentially involved in MBC risk; GENE; RISK; POLYMORPHISMS; ASSOCIATION; GENOMICS;

D O I：

10.3390/ijms241814348

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Even though male breast cancer (MBC) risk encompasses both genetic and environmental aetiologies, the primary risk factor is a germline pathogenic variant (PV) or likely pathogenic variant (LPV) in BRCA2, BRCA1 and/or PALB2 genes. To identify new potential MBC-specific predisposition genes, we sequenced a panel of 585 carcinogenesis genes in an MBC cohort without BRCA1/BRCA2/PALB2 PV/LPV. We identified 14 genes carrying rare PVs/LPVs in the MBC population versus noncancer non-Finnish European men, predominantly coding for DNA repair and maintenance of genomic stability proteins. We identified for the first time PVs/LPVs in PRCC (pre-mRNA processing), HOXA9 (transcription regulation), RECQL4 and WRN (maintenance of genomic stability) as well as in genes involved in other cellular processes. To study the specificity of this MBC PV/LPV profile, we examined whether variants in the same genes could be detected in a female breast cancer (FBC) cohort without BRCA1/BRCA2/PALB2 PV/LPV. Only 5/109 women (4.6%) carried a PV/LPV versus 18/85 men (21.2%) on these genes. FBC did not carry any PV/LPV on 11 of these genes. Although 5.9% of the MBC cohort carried PVs/LPVs in PALLD and ERCC2, neither of these genes were altered in our FBC cohort. Our data suggest that in addition to BRCA1/BRCA2/PALB2, other genes involved in DNA repair/maintenance or genomic stability as well as cell adhesion may form a specific MBC PV/LPV signature.

引用

页数：15

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