Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.727
Index Copernicus  – 152.95 pts
MNiSW – 40 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
Periodicity – monthly

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Advances in Clinical and Experimental Medicine

2017, vol. 26, nr 2, March-April, p. 339–342

doi: 10.17219/acem/59147

Publication type: original article

Language: English

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The risk of breast cancer due to PALB2 gene mutations

Marta Wesoła1,A,B,C,D, Michał Jeleń1,E,F

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.

Key words

PALB2, breast cancer, gene mutation

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