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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.

Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases