PALB2, partner and localizer of BRCA2, 79728

N. diseases: 122; N. variants: 253
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 Biomarker disease BEFREE We found an increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and in the UKFOCSS participants (0.6%) compared with control patients (0.09%) (P = 1 x 10(-4) and 8 x 10(-4), respectively), but no differences for BARD1 (P = .39), NBN1 ( P = .61), or PALB2 (P = .08). 26315354 2015
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 GeneticVariation disease BEFREE We analyzed the prevalence and spectrum of germline mutations in PALB2 to estimate their contribution to hereditary breast and/or ovarian cancer in the Czech Republic. 24136930 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 GeneticVariation disease BEFREE Thirty-one percent of ovarian carcinomas had a deleterious germline (24%) and/or somatic (9%) mutation in one or more of the 13 homologous recombination genes: BRCA1, BRCA2, ATM, BARD1, BRIP1, CHEK1, CHEK2, FAM175A, MRE11A, NBN, PALB2, RAD51C, and RAD51D. 24240112 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 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
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 GeneticVariation disease BEFREE We conclude that germline mutations of PALB2 do not significantly contribute to cancer risk in non-BRCA1/2 cancer families with at least one patient with ovarian cancer, male breast cancer, and/or pancreatic cancer. 20582465 2011
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 GeneticVariation disease BEFREE Two truncating mutations in PALB2 (Q66X and W1038X), one of which is has not been reported before, were detected in an independent Australian cohort of 70 individuals with breast or ovarian cancer, and have strong family histories of breast or breast/ovarian cancer. 21409391 2011
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 Biomarker disease BEFREE PALB2 physically and functionally connects the proteins encoded by the BRCA1 and BRCA2 breast and ovarian cancer genes into a DNA-damage-response network. 20332121 2010
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 GeneticVariation disease BEFREE Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families. 18501021 2009
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 GeneticVariation disease BEFREE Promoter hypermethylation of the PALB2 susceptibility gene in inherited and sporadic breast and ovarian cancer. 18281473 2008
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.390 CausalMutation disease CGI