PALB2 gene testing – pro
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Individuals with a mutation in PALB2 are at increased risk for breast cancer (up to 58% lifetime risk for women), and possibly pancreatic, ovarian and other cancers. National guidelines recommend that women with PALB2 mutations undergo increased screening for breast cancer beginning at age 30, and consider risk-reducing mastectomy. PALB2 mutations have been found in families with 2 or more cases of pancreatic cancer in close relatives. PALB2 mutations have been found in families with cases of male breast cancer, indicating that there may
be an increased risk for male breast cancer in some men with PALB2 mutations.
NCCN for further genetic evaluation guidelines asks for more than 2 cases of breast cancer in a single family member, 2 individuals with breast primaries, one of whom is below age 50, ovarian/fallopian tube, male breast cancer and certain family cancer patterns: breast, pancreatic, prostate, melanoma, sarcoma, adrenocortical carcinoma, brain tumor, leukemia, diffuse gastric cancer colon cancer, thyroid cancer, kidney cacner, dermatologic, microcephaly, hamartomous GI polyups, or multiple cancers in the same individual.
It does not appear that there is yet clarity on PALB testing for women with a personal history of ovarian cancer.
NCCN Clinical Practice Guidelines in Oncology®: Genetic/Familial High-Risk Assessment: Breast
and Ovarian. V 1.2018. October 3. Available at http://www.nccn.org.
Antoniou, A.C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., et al. (2014). Breast-cancer risk in families with mutations in PALB2. The New England Journal of Medicine, 371 (6), 497-506. (Level 3 evidence)