Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE This study aims to characterize a novel PALB2 exon 13 duplication in a hereditary breast and ovarian cancer family. 27757719 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. 21409391 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Specific germline mutations in the hereditary breast-ovarian cancer susceptibility (HBC/HBOC) genes, BRCA1, BRCA2 and PALB2, have been shown to recur in French Canadians of Quebec, Canada, and this has been attributed to common ancestors. 25925845 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Frequency of pathogenic germline mutation in CHEK2, PALB2, MRE11, and RAD50 in patients at high risk for hereditary breast cancer. 27783279 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE PALB2 mutation screening was performed in 370 Pakistani patients with early-onset and familial breast/ovarian cancer, who were negative for BRCA1, BRCA2, TP53, CHEK2, and RAD51C mutations, using denaturing high-performance liquid chromatography analysis. 30309218 2019
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR A PALB2 mutation associated with high risk of breast cancer. 21182766 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease ORPHANET Hereditary breast and ovarian cancer susceptibility genes (review). 23779253 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Some of these proteins also confer susceptibility to hereditary breast and ovarian cancer (HBOC), since FANCD1 is the BRCA2 breast cancer susceptibility gene, and FANCN/PALB2 and FANCJ/BRIP1 explain 2% of non-BRCA1/2 HBOC families. 19536649 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Protein-truncating variants in moderate-risk breast cancer susceptibility genes: a meta-analysis of high-risk case-control screening studies. 26250988 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer. 27067391 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. 24556926 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations. 26898890 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. 19264984 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2. 24206657 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Haplotype analyses of the c.1027C>T and c.2167_2168delAT recurrent truncating mutations in the breast cancer-predisposing gene PALB2. 27624329 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. 23448497 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR A PALB2 germline mutation associated with hereditary breast cancer in Italy. 19763884 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE Although PALB2 truncating mutations are rarely identified, segregation analysis and early onset cancer suggest a significant contribution to HBOC susceptibility in the Spanish population. 30521987 2019
Hereditary Breast and Ovarian Cancer Syndrome
0.460 CausalMutation disease CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.460 GeneticVariation disease BEFREE KT-10 possesses a truncating mutation in PALB2 analogous to PALB2 mutations associated with hereditary breast and ovarian cancer that abrogate homologous recombination (HR) repair. 25263539 2015