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PALB2 mutations make a small contribution to the heritable breast cancer susceptibility in French population.
Although patient cells were unable to form Rad51 (show RAD51 Proteins) foci following exposure to either DNA damaging agent, U2OS cells, in which the mutant PALB2 with in frame skip of exon 6 was induced, did show recruitment of Rad51 (show RAD51 Proteins) to foci following damage.
The aim of this study was to determine the frequency and spectrum of germline mutations in BRCA1, BRCA2 and PALB2 and to evaluate the presence of the CHEK2 c.1100delC allele in these patients.
PALB2 Mutation is associated with Breast Cancer.
Novel PALB2 mutation was found in a cohort of Italian breast cancer patients.
Germ-line DNA samples from 727 unrelated probands with positive family history (521 met criteria for familial pancreatic cancer) were tested for mutations in BRCA1 and BRCA2, PALB2, and CDKN2A.
The truncating variants in PALB2 as high-penetrance breast cancer susceptibility alleles.
Two novel heterozygous mutations predicted to alter the function of PALB2 were identified (c.2014G>C, p.E672Q and c.2993G>A, p.G998E). Notably, both of these mutations co-existed in BRCA1 and BRCA2 (show BRCA2 Proteins) families
Truncating PALB2 mutations were detected in families with breast cancer negative for which a BRCA1 or BRCA2 (show BRCA2 Proteins) mutation has not been found.
Our results suggest that PALB2 c.1676A > G and c.2993C > T play roles in BC risk in women with a strong family history of BC.
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