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Study have shown that mutations in BRCA1, BRCA2 (show BRCA2 Proteins), and PALB2 account for more than 10 % of breast cancer in Trinidad and Tobago. 25 different mutations identified; of these, four mutations were seen in two patients each.
Germline mutations in the PALB2 gene were observed at a frequency of approximately 1.5% in Polish breast and/or ovarian cancer patients
Prevalence of germline PALB2 mutations among women with epithelial ovarian cancer in Ontario
inherited pathogenic variants in PALB2 were associated with high risks of breast cancer
Findings establish L35P as the first pathogenic missense mutation in PALB2 and directly demonstrate the requirement of the PALB2-BRCA1 interaction for breast cancer suppression.
In this paper, we describe an extension to the BOADICEA model to incorporate the effects of intermediate risk variants for breast cancer, specifically loss of function mutations in the three genes for which the evidence for association is clearest and the risk estimates most precise: PALB2, CHEK2 (show CHEK2 Proteins) and ATM (show ATM Proteins)
Data show an increase of error-prone single-strand annealing (SSA (show TRIM21 Proteins)) and microhomology-mediated end-joining (MMEJ) in the PALB2 (partner and localizer of BRCA2) c.1592delT mutation carriers.
Studies suggest that people with high risk of breast cancer and negative BRCA1/BRCA2 (show BRCA2 Proteins) should be tested for PALB2 mutations.
PALB2 rare variants were associated with an increased risk of breast cancer.
our findings highlight a critical importance of PALB2 phosphorylation as a novel regulatory step in genome maintenance after genotoxic stress.
we describe a genetic approach to examine the functional significance of the interaction between BRCA2 (show BRCA2 Proteins) and PALB2 by generating a knock-in mouse model of Brca2 (show BRCA2 Proteins) carrying a single amino acid change (Gly25Arg, Brca2G25R) that disrupts this interaction. In addition, we have combined Brca2G25R homozygosity as well as hemizygosity with Palb2 and Trp53 (show TP53 Proteins) heterozygosity .
results underscore the in vivo importance of the PALB2-BRCA1 complex formation in DSB repair and male meiosis
Palb2 synergizes with Trp53 (show TP53 Proteins) to suppress mammary tumor formation in a model of inherited breast cancer.
A key function for PALB2 is to interact with and to build up appropriate communication between BRCA1 (show BRCA1 Proteins) and BRCA2 (show BRCA2 Proteins).
This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2.
partner and localizer of BRCA2
, Fanconi N
, Fanconi anemia
, complementation group N
, partner and localizer of BRCA2-like