Advances in Clinical and Experimental Medicine
2017, vol. 26, nr 2, March-April, p. 339–342
Publication type: original article
The risk of breast cancer due to PALB2 gene mutations
1 Department of Pathomorphology and Oncological Cytology, Wroclaw Medical University, Poland
Mutations in the PALB2 gene are a predisposing factor to the development of breast cancer. PALB2 gene mutations have been detected in most breast cancer populations, but due to the rarity of their occurrence and the lack of information about their penetrance, they present a challenge when providing genetic counseling for families that have a history of breast cancer. The occurrence rate of PALB2 mutations ranges from 0.1% to 1.5% depending on the population. Despite the rarity of this mutation, information on the status of PALB2 mutations in carriers of this gene, as well as for members of their families who may be carriers, is of the utmost importance for clinical reasons, because these mutations are a high risk factor for breast cancer. There is a defined incidence of PALB2 mutations in patients with breast cancer and negative BRCA1/BRCA2. People with a high risk of breast cancer and negative BRCA1/BRCA2 should be tested for PALB2 mutations.
PALB2, breast cancer, gene mutation
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