Genetics & Genomics

PALB2 and the Risks for Cancer: Implications for Clinical Care

Edith C. Smith

breast cancer, pancreatic cancer, genetics, inherited cancer risk
ONF 2015, 42(1), 100-102. DOI: 10.1188/15.ONF.100-102

Mutations in the PALB2 gene are responsible for a small but significant percentage of cancer risks in familial breast and pancreatic cancer families. PALB2 mutations may be associated with an increase in other cancer risks as well. This article will provide an overview of the PALB2 gene, cancer risks associated with carrying a PALB2 mutation, and implications for patient care.

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    References

    Ambry Genetics Corp. (2014). Hereditary cancer panels: Clinician guide. Retrieved from http://www.ambrygen.com/sites/default/files/pdfs/Hereditary_Cancer_Tabbed_Clinician_0914_final_web.pdf
    Antoniou, A. C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., … Tischkowitz, M. (2014). Breast-cancer risk in families with mutations in PALB2. New England Journal of Medicine, 371, 497-506. doi:10.1056/NEJMoa1400382
    Aoude, L. G., Xu, M., Zhao, Z. Z., Kovacs, M., Palmer, J. M., Johansson, P., … Hayward, N. K. (2014). Assessment of PALB2 as a candidate melanoma susceptibility gene. PLoS ONE, 9, e100683. doi:10.1371/journal.pone.0100683
    Apostolou, P., & Fostira, F. (2013). Hereditary breast cancer: The era of new susceptibility genes. BioMed Research International, 2013, 747318. doi:10.1155/2013/747318
    Canto, M. I., Harinck, F., Hruban, R. H., Offerhaus, G. J., Poley, J. W., Kamel, I.,… Bruno, M. (2013). International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut, 62, 339-347. doi:10.1136/gutjnl-2012-303108
    Casadei, S., Norquist, B. M., Walsh, T., Stray, S., Mandell, J. B., Lee, M. K., … King, M. C. (2011). Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. Cancer Research, 71, 2222-2229. doi:10.1158/0008-5472.CAN-10-3958
    Ding, Y. C., Steele, L., Kuan, C. J., Greilac, S., & Neuhausen, S. L. (2011). Mutations in BRCA2 and PALB2 in male breast cancer cases from the United States. Breast Cancer Research and Treatment, 126, 771-778. doi:10.1007/s10549-010-1195-2
    GeneDx. (2014). Hereditary cancer syndromes. Retrieved from https://www.genedx.com/test-catalog/medical-specialty/#H
    Hofstatter, E. W., Domchek, S. M., Miron, A., Garber, J., Wang, M., Componeschi, K., … Tung, N. (2011). PALB2 mutations in familial breast and pancreatic cancer. Familial Cancer Impact Factor, 10, 225-231. doi:10.1007/s10689-011-9426-1
    Jones, S., Hruban, R. H., Kamiyama, M., Borges, M., Zhang, X., Parsons, D. W.,… Klein, A. P. (2009). Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science, 324, 217. doi:10.1126/science.1171202
    Myriad Genetics. (2014). Gene table. Retrieved from https://www.myriadpro.com/myrisk/why-myriad-myrisk/gene-selection
    National Cancer Institute. (2014). Low- and moderate-penetrance genes associated with breast and/or ovarian cancer. Retrieved from www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page3
    National Comprehensive Cancer Network. (2014). NCCN Clinical Practice Guidelines in Oncology: Breast cancer screening and diagnosis. Retrieved from http://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf
    National Library of Medicine. (2007). PALB2. Retrieved from http://ghr.nlm.nih.gov/gene/PALB2
    Park, J. Y., Zhang, F., & Andreassen, P. R. (2014). PALB2: The hub of a network of tumor suppressors involved in DNA damage responses. Biochimica et Biophysica Acta, 1846, 263-275. doi:10.1016/j.bbcan.2014.06.003
    Rahman, N., Seal, S., Thompson, D., Kelly, P., Renwick, A., Elliott, A., … Stratton, M. R. (2007). PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nature Genetics, 39, 165-167. doi:10.1038/ng1959
    Saslow, D., Boetes, C., Burke, W., Harms, S., Leach, M. O., Lehman, C. D., … Russell, C. A. (2007). American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA: A Cancer Journal for Clinicians, 57, 75-89. doi:10.3322/canjclin.57.2.75
    Verna, E. C., Hwang, C., Stevens, P. D., Rotterdam, H., Stavropoulos, S. N., Sy, C. D., … Frucht, H. (2010). Pancreatic cancer screening in a prospective cohort of high-risk patients: A comprehensive strategy of imaging and genetics. Clinical Cancer Research, 16, 5028-5037. doi:10.1158/1078-0432.CCR-09-3209
    Zhang, Y. X., Wang, X. M., Kang, S., Li, X., & Geng, J. (2013). Common variants in the PALB2 gene confer susceptibility to breast cancer: A meta-analysis. Asian Pacific Journal of Cancer Prevention, 14, 7149-7154. doi:10.7314/APJCP.2013.14.12.7149