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Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases
- Source :
- Digital.CSIC. Repositorio Institucional del CSIC, instname, PLoS One, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, PLoS ONE, PLoS ONE, Vol 8, Iss 7, p e67538 (2013)
- Publication Year :
- 2013
- Publisher :
- Public Library of Science, 2013.
-
Abstract
- This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- et al.<br />[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.<br />This research was supported by grants from the Xunta de Galicia (10PXIB 9101297PR) and FMM Foundation given to AV. MH was supported from the Instituto de Salud Carlos III, Fondo de Investigación Sanitaria (FIS) Research Grant 09/00859, and Fundación Mutua Madrileña (FMM) Research Grant FMM-08. SGE is supported by a Miguel Servet contract of the Instituto de Salud Carlos III. EAV was supported in part by grants BIO39/VA27/10 (Consejería de Sanidad) and CSI004A10-2 (Consejería de Educación) from the Junta de Castilla y León.
- Subjects :
- Male
Oncology
endocrine system diseases
Epidemiology
Colorectal cancer
DNA Mutational Analysis
ComputingMilieux_LEGALASPECTSOFCOMPUTING
Prostate cancer
Breast Tumors
skin and connective tissue diseases
Ovarian Neoplasms
Multidisciplinary
BRCA1 Protein
Cancer Risk Factors
Nuclear Proteins
Obstetrics and Gynecology
BRCA2 Protein
Pedigree
Ovarian Cancer
Genetic Epidemiology
Medicine
Female
Fanconi Anemia Complementation Group N Protein
Research Article
medicine.medical_specialty
Science
PALB2
Genetic Causes of Cancer
Breast Neoplasms
Biology
Predisposing Conditions and Syndromes
Pancreatic Cancer
Germline mutation
Breast cancer
Genetic Mutation
Internal medicine
Pancreatic cancer
Breast Cancer
Gastrointestinal Tumors
Genetics
Cancer Genetics
medicine
Humans
Family
Genetic Testing
Clinical Genetics
Population Biology
Tumor Suppressor Proteins
Computational Biology
Cancers and Neoplasms
medicine.disease
Pancreatic Neoplasms
Spain
Mutation
Cancer research
Ovarian cancer
Gynecological Tumors
Population Genetics
Subjects
Details
- ISSN :
- 19326203
- Database :
- OpenAIRE
- Journal :
- Digital.CSIC. Repositorio Institucional del CSIC, instname, PLoS One, r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau, PLoS ONE, PLoS ONE, Vol 8, Iss 7, p e67538 (2013)
- Accession number :
- edsair.doi.dedup.....da67f2bb106dc1cf9ff114960439ab8c