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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
PLoS One 2013; 8(7):e67538Plos

Abstract

BACKGROUND

The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer.

METHODS

132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification.

RESULTS

Two PALB2 truncating mutations, the c.1653T>A (p.Tyr551Stop) previously reported, and c.3362del (p.Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%.

CONCLUSIONS

The prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required.

Authors+Show Affiliations

Fundación Pública Galega de Medicina Xenómica-Servicio Galego de Saúde, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Spanish Network on Rare Diseases (CIBERER), Instituto de Investigaciones Sanitarias de Santiago, Santiago de Compostela, A Coruña, Spain.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23935836

Citation

Blanco, Ana, et al. "Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/ovarian Cancer Families With Pancreatic Cancer Cases." PloS One, vol. 8, no. 7, 2013, pp. e67538.
Blanco A, de la Hoya M, Osorio A, et al. Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PLoS ONE. 2013;8(7):e67538.
Blanco, A., de la Hoya, M., Osorio, A., Diez, O., Miramar, M. D., Infante, M., ... Vega, A. (2013). Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. PloS One, 8(7), pp. e67538. doi:10.1371/journal.pone.0067538.
Blanco A, et al. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/ovarian Cancer Families With Pancreatic Cancer Cases. PLoS ONE. 2013;8(7):e67538. PubMed PMID: 23935836.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. AU - Blanco,Ana, AU - de la Hoya,Miguel, AU - Osorio,Ana, AU - Diez,Orland, AU - Miramar,María Dolores, AU - Infante,Mar, AU - Martinez-Bouzas,Cristina, AU - Torres,Asunción, AU - Lasa,Adriana, AU - Llort,Gemma, AU - Brunet,Joan, AU - Graña,Begoña, AU - Perez Segura,Pedro, AU - Garcia,María José, AU - Gutiérrez-Enríquez,Sara, AU - Carracedo,Ángel, AU - Tejada,María-Isabel, AU - Velasco,Eladio A, AU - Calvo,María-Teresa, AU - Balmaña,Judith, AU - Benitez,Javier, AU - Caldés,Trinidad, AU - Vega,Ana, Y1 - 2013/07/23/ PY - 2013/01/31/received PY - 2013/05/20/accepted PY - 2013/8/13/entrez PY - 2013/8/13/pubmed PY - 2014/3/7/medline SP - e67538 EP - e67538 JF - PloS one JO - PLoS ONE VL - 8 IS - 7 N2 - BACKGROUND: The PALB2 gene, also known as FANCN, forms a bond and co-localizes with BRCA2 in DNA repair. Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. The goal of this study was to determine the prevalence of PALB2 mutations in a population of BRCA1/BRCA2 negative breast cancer patients selected from either a personal or family history of pancreatic cancer. METHODS: 132 non-BRCA1/BRCA2 breast/ovarian cancer families with at least one pancreatic cancer case were included in the study. PALB2 mutational analysis was performed by direct sequencing of all coding exons and intron/exon boundaries, as well as multiplex ligation-dependent probe amplification. RESULTS: Two PALB2 truncating mutations, the c.1653T>A (p.Tyr551Stop) previously reported, and c.3362del (p.Gly1121ValfsX3) which is a novel frameshift mutation, were identified. Moreover, several PALB2 variants were detected; some of them were predicted as pathological by bioinformatic analysis. Considering truncating mutations, the prevalence rate of our population of BRCA1/2-negative breast cancer patients with pancreatic cancer is 1.5%. CONCLUSIONS: The prevalence rate of PALB2 mutations in non-BRCA1/BRCA2 breast/ovarian cancer families, selected from either a personal or family pancreatic cancer history, is similar to that previously described for unselected breast/ovarian cancer families. Future research directed towards identifying other gene(s) involved in the development of breast/pancreatic cancer families is required. SN - 1932-6203 UR - https://www.unboundmedicine.com/medline/citation/23935836/Analysis_of_PALB2_gene_in_BRCA1/BRCA2_negative_Spanish_hereditary_breast/ovarian_cancer_families_with_pancreatic_cancer_cases_ L2 - http://dx.plos.org/10.1371/journal.pone.0067538 DB - PRIME DP - Unbound Medicine ER -