2024-03-29T13:39:38Zhttp://digital.csic.es/dspace-oai/requestoai:digital.csic.es:10261/1167882021-12-27T16:03:08Zcom_10261_39com_10261_1col_10261_292
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases
Blanco, Ana
Hoya, Miguel de la
Osorio, Ana
Díez, Orland
Infante, Mar
Tejada, María Isabel
Velasco, Eladio
Benitez, Javier
Vega, Ana
Xunta de Galicia
Instituto de Salud Carlos III
Fundación Mutua Madrileña
Junta de Castilla y León
This is an open-access article distributed under the terms of the Creative Commons Attribution License.-- et al.
[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.
2015-06-18T09:46:57Z
2015-06-18T09:46:57Z
2013
2015-06-18T09:46:58Z
artículo
PLoS ONE 8(7): e67538 (2013)
http://hdl.handle.net/10261/116788
10.1371/journal.pone.0067538
http://dx.doi.org/10.13039/501100004587
http://dx.doi.org/10.13039/100008061
http://dx.doi.org/10.13039/501100014180
http://dx.doi.org/10.13039/501100010801
23935836
eng
Publisher's version
http://dx.doi.org/10.1371/journal.pone.0067538
Sí
http://creativecommons.org/licenses/by/4.0/
openAccess
Public Library of Science