Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer

被引：46

作者：

Blanco, Ana ^{[2
]}

de la Hoya, Miguel ^{[3
]}

Balmana, Judith ^{[4
]}

Ramon y Cajal, Teresa ^{[5
]}

Teule, Alex ^{[6
]}

Miramar, Maria-Dolores ^{[7
]}

Esteban, Eva ^{[8
]}

Infante, Mar ^{[9
]}

Benitez, Javier ^{[10
]}

Torres, Asuncion ^{[11
]}

Tejada, Maria-Isabel ^{[12
]}

Brunet, Joan ^{[13
]}

Grana, Begona ^{[14
]}

Balbin, Milagros ^{[15
]}

Perez-Segura, Pedro ^{[16
]}

Osorio, Ana ^{[10
]}

Velasco, Eladio A. ^{[9
]}

Chirivella, Isabel ^{[17
]}

Calvo, Maria-Teresa ^{[7
]}

Feliubadalo, Lidia ^{[6
]}

Lasa, Adriana ^{[18
]}

Diez, Orland ^{[19
]}

Carracedo, Angel ^{[2
]}

Caldes, Trinidad ^{[3
]}

Vega, Ana ^{[1
,2
]}

机构：

[1] Hosp Clin, Fdn Publ Galega Med Xen, Santiago De Compostela, Spain

[2] IDIS, CIBER ER, Grp Med Xen USC, Fdn Publ Galega Med Xen SERGAS, Santiago De Compostela, Spain

[3] Hosp Clin San Carlos, Lab Oncol Mol, Madrid, Spain

[4] Hosp Univ Vall DHebron, Serv Oncol Med, Barcelona, Spain

[5] Hosp Santa Creu & Sant Pau, Serv Oncol, Barcelona, Spain

[6] IDIBELL ICO, Programa Canc Hereditario, Inst Catalan Oncol, Barcelona, Spain

[7] Hosp Univ Miguel Servet, Unidad Genet, Serv Bioquim, Zaragoza, Spain

[8] Hosp Univ La Fe, Mol Biol Lab, Serv Anal Clin, Valencia, Spain

[9] Inst Biol & Genet Mol UVa CSIC, Grp Genet Canc, Valladolid, Spain

[10] CIBER ER Madrid, CNIO, Grp Genet Humana, Madrid, Spain

[11] Hosp Univ St Joan, Unitat Consell Genet, Reus, Iispv, Spain

[12] Hosp Cruces, Lab Genet Mol, Serv Bioquim, Baracaldo, Spain

[13] IDIBGI, Programa Canc Hereditario, Inst Catala Oncol, Girona, Spain

[14] Hosp Arquitecto Marcide, Area Sanitaria Ferrol, Oncoloxia Med UARC Consello Xenet, La Coruna, Spain

[15] Hosp Univ Cent Asturias, Lab Oncol Mol, IUOPA, Oviedo, Spain

[16] Hosp Clin San Carlos, Serv Oncol Med, Madrid, Spain

[17] Hosp Clin Univ, Unidad Consejo Genet Canc, Valencia, Spain

[18] Hosp Santa Creu & Sant Pau, Serv Genet, Barcelona, Spain

[19] Hosp Univ Vall dHebron, Lab Oncogenet, Vall dHebron Inst Oncol VHIO, Programa Med Mol, Barcelona, Spain

来源：

BREAST CANCER RESEARCH AND TREATMENT | 2012年 / 132卷 / 01期

关键词：

Familial breast cancer; PALB2; Male breast cancer; Genomic rearrangement; BRCA1/BRCA2-negative families; In silico analysis; FANCONI-ANEMIA; BRCA2-INTERACTING PROTEIN; SUSCEPTIBILITY GENE; PANCREATIC-CANCER; MUTATION; BRCA2; PARTNER; REPAIR; WOMEN;

D O I：

10.1007/s10549-011-1842-2

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

It has been demonstrated that monoallelic PALB2 (Partner and Localizer of BRCA2) gene mutations predispose to familial breast cancer. Some of the families reported with germline PALB2 mutations presented male breast cancer as a characteristic clinical feature. Therefore, we wanted to investigate the contribution of germline PALB2 mutations in a set of 131 Spanish BRCA1/BRCA2-negative breast/ovarian cancer families with at least one male breast cancer case. The analysis included direct sequencing of all coding exons and intron/exon boundaries as well as a Multiplex Ligation-dependent Probe Amplification-based analysis of genomic rearrangements. For the first time we have identified a genomic rearrangement of PALB2 gene involving a large deletion from exon 7 to 11 in a breast cancer family. We have also identified several PALB2 variants, but no other obvious deleterious PALB2 mutation has been found. Thus, our study does not support an enrichment of PALB2 germline mutations in the subset of breast cancer families with male breast cancer cases. The identification of intronic and exonic variants indicates the necessity of assessing the implications of variants that do not lead to PALB2 truncation in the pathoghenicity of the PALB2 gene.

引用

页码：307 / 315

页数：9

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