Germline BAP1 Mutations Predispose to Renal Cell Carcinomas

被引：204

作者：

Popova, Tatiana ^{[1
]}

Hebert, Lucie ^{[1
]}

Jacquemin, Virginie ^{[1
]}

Gad, Sophie ^{[2
,3
]}

Caux-Moncoutier, Virginie ^{[4
]}

Dubois-d'Enghien, Catherine ^{[4
]}

Richaudeau, Benedicte ^{[4
]}

Renaudin, Xavier ^{[1
]}

Sellers, Jason ^{[1
]}

Nicolas, Andre ^{[4
]}

Sastre-Garau, Xavier ^{[4
]}

Desjardins, Laurence ^{[5
]}

Gyapay, Gabor ^{[6
]}

Raynal, Virginie ^{[1
]}

Sinilnikova, Olga M. ^{[7
,8
]}

Andrieu, Nadine ^{[9
]}

Manie, Elodie ^{[1
]}

de Pauw, Antoine ^{[4
]}

Gesta, Paul ^{[10
]}

Bonadona, Valerie ^{[11
,12
]}

Maugard, Christine M. ^{[13
]}

Penet, Clotilde ^{[14
]}

Avril, Marie-Francoise ^{[15
]}

Barillot, Emmanuel ^{[9
,16
]}

Cabaret, Odile ^{[17
,18
]}

Delattre, Olivier ^{[1
]}

Richard, Stephane ^{[2
,3
]}

Caron, Olivier ^{[19
]}

Benfodda, Meriem ^{[20
,21
]}

Hu, Hui-Han ^{[20
,21
]}

Soufir, Nadem ^{[20
,21
]}

Bressac-de Paillerets, Brigitte ^{[17
,18
]}

Stoppa-Lyonnet, Dominique ^{[1
,4
,22
]}

Stern, Marc-Henri ^{[1
,4
]}

机构：

[1] Inst Curie, INSERM, U830, F-75248 Paris, France

[2] Inst Cancerol Gustave Roussy, INSERM, U753, Genet Oncol EPHE, F-94805 Villejuif, France

[3] Hop Bicetre, AP HP, INCa, Ctr Expert Natl Canc Rares PREDIR, F-94276 Le Kremlin Bicetre, France

[4] Inst Curie, Dept Tumor Biol, F-75248 Paris, France

[5] Inst Curie, Dept Chirurg, F-75248 Paris, France

[6] CEA, GENOSCOPE, Ctr Natl Sequencage, F-91057 Evry, France

[7] Ctr Hosp Univ Lyon, Unite Mixte Genet Constitut Canc Frequents, Ctr Leon Berard, F-69008 Lyon, France

[8] Univ Lyon 1, CNRS, UMR5286, INSERM,U1052,Ctr Rech Cancerol Lyon, F-69008 Lyon, France

[9] Inst Curie, INSERM, U900, F-75248 Paris, France

[10] Ctr Hosp G Renon, Serv Oncol, F-79021 Niort, France

[11] Univ Lyon 1, CNRS, UMR 5558, F-69622 Villeurbanne, France

[12] Ctr Leon Berard, F-69008 Lyon, France

[13] Nouvel Hop Civil, Lab Diagnost Genet, F-67091 Strasbourg, France

[14] Inst Jean Godinot, Unite Oncogenet, F-51056 Reims, France

[15] Univ Paris 05, Hop Cochin, APHP, Serv Dermatol, F-75014 Paris, France

[16] Mines ParisTech, F-77300 Fontainebleau, France

[17] Inst Cancerol Gustave Roussy, Serv Genet, F-94805 Villejuif, France

[18] INSERM, U946, F-75010 Paris, France

[19] Inst Cancerol Gustave Roussy, Dept Med, F-94805 Villejuif, France

[20] Hop Xavier Bichat, APHP, Dept Genet, F-75018 Paris, France

[21] Univ Paris 07, St Louis Hosp, INSERM, U976,Skin Res Ctr, F-75010 Paris, France

[22] Univ Paris 05, F-75270 Paris, France

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2013年 / 92卷 / 06期

关键词：

BRCA1-ASSOCIATED PROTEIN-1; UBIQUITIN HYDROLASE; LUNG ADENOCARCINOMA; SOMATIC MUTATIONS; HEREDITARY CAUSES; BREAST-CANCER; UVEAL; MESOTHELIOMA; MELANOMA; TUMORS;

D O I：

10.1016/j.ajhg.2013.04.012

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The genetic cause of some familial nonsyndromic renal cell carcinomas (RCC) defined by at least two affected first-degree relatives is unknown. By combining whole-exome sequencing and tumor profiling in a family prone to cases of RCC, we identified a germline BAP1 mutation c.277A>G (p.Thr93Ala) as the probable genetic basis of RCC predisposition. This mutation segregated with all four RCC-affected relatives. Furthermore, BAP1 was found to be inactivated in RCC-affected individuals from this family. No BAP1 mutations were identified in 32 familial cases presenting with only RCC. We then screened for germline BAP1 deleterious mutations in familial aggregations of cancers within the spectrum of the recently described BAP1-associated tumor predisposition syndrome, including uveal melanoma, malignant pleural mesothelioma, and cutaneous melanoma. Among the 11 families that included individuals identified as carrying germline deleterious BAP1 mutations, 6 families presented with 9 RCC-affected individuals, demonstrating a significantly increased risk for RCC. This strongly argues that RCC belongs to the BAP1 syndrome and that BAP1 is a RCC-predisposition gene.

引用

页码：974 / 980

页数：7

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