Abstract
PALB2 is a breast and pancreas cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. This functional relationship made PALB2 a candidate gene for susceptibility to BRCA2-related cancers such as melanoma. The purpose of this study was to screen for the presence of germline mutations in PALB2 in familial melanoma cases. We sequenced the exons and intron–exon boundaries of PALB2 in probands from 53 families with familial melanoma where CDKN2A mutations were absent. A number of previously reported coding and non-coding variants were observed. However, no truncating mutations were identified. These results indicate that deleterious PALB2 mutations are unlikely to play a significant role in familial melanoma.
References
Meyle KD, Guldberg P (2009) Genetic risk factors for melanoma. Hum Genet 126(4):499–510
Hussussian CJ, Struewing JP, Goldstein AM et al (1994) Germline p16 mutations in familial melanoma. Nat Genet 8(1):15–21
Goldstein AM, Chan M, Harland M et al (2006) High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across Genomel. Cancer Res 66(20):9818–9828
Consortium BreastCancerLinkage (1999) Cancer risks in BRCA2 mutation carriers.The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91(15):1310–1316
Ginsburg O, Kim-Sing C, Foulkes W et al. (2010) BRCA1 and BRCA2 families and the risk of skin cancer. Fam Cancer 1–5. doi: 10.1007/s10689-010-9377-y
Narod SA, Foulkes WD (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4(9):665–676
Xia B, Sheng Q, Nakanishi K et al (2006) Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell 22(6):719–729
Tischkowitz M, Xia B (2010) PALB2/FANCN: recombining cancer and Fanconi anemia. Cancer Res 70(19):7353–7359
Tischkowitz M, Xia B, Sabbaghian N et al (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA 104(16):6788–6793
Rahman N, Seal S, Thompson D et al (2007) PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet 39(2):165–167
Acknowledgments
This work was supported by the Susan G. Komen Foundation for the Cure and the Jewish General Hospital Weekend to End Breast Cancer. MT holds a Fonds de la Recherche en Santé du Québec (FRSQ) clinician-scientist award.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Sabbaghian, N., Kyle, R., Hao, A. et al. Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma. Familial Cancer 10, 315–317 (2011). https://doi.org/10.1007/s10689-010-9405-y
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10689-010-9405-y