Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.500 | GeneticVariation | disease | BEFREE | The proband carrier of c.3047T>C (p.F1016S) showed two breast cancer cases, two ovarian cancer cases and one pancreatic cancer in mother's family. c.3047T>C (p.F1016S) and c.*146A>G should be considered PALB2 UVs even though the genotype-phenotype correlation for these variants remains still unclear. | 25666743 | 2015 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | Germ-line mutations in PALB2 lead to a familial predisposition to breast and pancreatic cancer or to Fanconi Anemia subtype N. PALB2 performs its tumor suppressor role, at least in part, by supporting homologous recombination-type double strand break repair (HR-DSBR) through physical interactions with BRCA1, BRCA2, and RAD51. | 23657012 | 2013 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | These consist of high penetrance genes including BRCA2 or PALB2, to more common genetic variation associated with a modest increase risk of pancreatic cancer such as genetic variation at the ABO blood group locus. | 22162228 | 2012 | ||||
|
0.500 | Biomarker | disease | BEFREE | PALB2 heterozygotes were 4-fold more likely to have a male relative with breast cancer (P = 0.0003), 6-fold more likely to have a relative with pancreatic cancer (P = 0.002), and 1.3-fold more likely to have a relative with ovarian cancer (P = 0.18). | 21285249 | 2011 | ||||
|
0.500 | Biomarker | disease | BEFREE | PALB2 is a breast and pancreas cancer susceptibility gene whose protein is closely associated with BRCA2 and is essential for BRCA2 anchorage to nuclear structures. | 21153565 | 2011 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | It subsequently became clear that PALB2 was another Fanconi anemia (FA) gene (FANCN), and that monoallelic PALB2 mutations are associated with increased risk of breast and pancreatic cancer. | 20858716 | 2010 | ||||
|
0.500 | GeneticVariation | disease | BEFREE | Mutations in PALB2 have been associated with a predisposition to breast and pancreatic cancers. | 27757719 | 2016 |