title: Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
abstract: 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.
authors: Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBER-ER, IDIS, Santiago de Compostela, Spain.
authors: Ana
authors: A
authors: Blanco
authors: Miguel
authors: M
authors: de la Hoya
authors: Judith
authors: J
authors: Balmaña
authors: Teresa
authors: T
authors: Ramón y Cajal
authors: Alex
authors: A
authors: Teulé
authors: María-Dolores
authors: MD
authors: Miramar
authors: Eva
authors: E
authors: Esteban
authors: Mar
authors: M
authors: Infante
authors: Javier
authors: J
authors: Benítez
authors: Asunción
authors: A
authors: Torres
authors: María-Isabel
authors: MI
authors: Tejada
authors: Joan
authors: J
authors: Brunet
authors: Begoña
authors: B
authors: Graña
authors: Milagros
authors: M
authors: Balbín
authors: Pedro
authors: P
authors: Pérez-Segura
authors: Ana
authors: A
authors: Osorio
authors: Eladio A
authors: EA
authors: Velasco
authors: Isabel
authors: I
authors: Chirivella
authors: María-Teresa
authors: MT
authors: Calvo
authors: Lidia
authors: L
authors: Feliubadaló
authors: Adriana
authors: A
authors: Lasa
authors: Orland
authors: O
authors: Díez
authors: Angel
authors: A
authors: Carracedo
authors: Trinidad
authors: T
authors: Caldés
authors: Ana
authors: A
authors: Vega
mesh_terms: D000368:Aged; D018567:Breast Neoplasms, Male / Q000235:genetics*; D005091:Exons; D000076164:Fanconi Anemia Complementation Group N Protein; D005260:Female; D056726:Genetic Association Studies; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion; D013030:Spain; D025521:Tumor Suppressor Proteins / Q000235:genetics*
chemical_list: D000076164:Fanconi Anemia Complementation Group N Protein; D009687:Nuclear Proteins; C512790:PALB2 protein, human; D025521:Tumor Suppressor Proteins