PALB2, partner and localizer of BRCA2, 79728

N. diseases: 260; N. variants: 410
Disease: Pancreatic carcinoma, familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE PALB2 gene is mutated in about 1-2% of familial breast cancer as well as in 3-4% of familial pancreatic cancer cases. 25666743 2015
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Germ-line DNA samples from 727 unrelated probands with positive family history (521 met criteria for familial pancreatic cancer) were tested in compliance with the Clinical Laboratory Improvement Amendments for mutations in BRCA1 and BRCA2 (including analysis of deletions and rearrangements), PALB2, and CDKN2A. 25356972 2015
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Germline mutations in PALB2 have been identified in approximately 1% of familial breast cancer and 3-4% of familial pancreatic cancer. 23935836 2013
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer. 23561644 2013
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Routine testing for PALB2 mutations in familial pancreatic cancer families and breast cancer families with pancreatic cancer is not indicated. 22166947 2012
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 SusceptibilityMutation disease ORPHANET Germline mutations in PALB2 have been identified in approximately 1-2% of familial breast cancer and 3-4% of familial pancreatic cancer cases. 21365267 2011
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Germline mutations in PALB2 have been identified in approximately 1-2% of familial breast cancer and 3-4% of familial pancreatic cancer cases. 21365267 2011
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Mono-allelic germline mutations of BRCA2 and PALB2 are risk alleles of female breast cancer and have also been reported in familial pancreatic cancer, and bi-allelic mutations cause a severe form of Fanconi anemia. 20582465 2011
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE PALB2 mutations in European familial pancreatic cancer families. 20412113 2010
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 SusceptibilityMutation disease ORPHANET PALB2 mutations in European familial pancreatic cancer families. 20412113 2010
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		0.390 GeneticVariation disease BEFREE Analysis of 96 additional patients with familial pancreatic cancer revealed three distinct protein-truncating mutations, thereby validating the role of PALB2 as a susceptibility gene for pancreatic cancer. 19264984 2009