Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Integrated analysis of germline and somatic variants in ovarian cancer. 24448499 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Sequencing of 20 complete genes in HBOC patients with uninformative test results (N = 287), including noncoding and flanking sequences of ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51B, STK11, TP53, and XRCC2, identified 38,372 unique variants. 26898890 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.440 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
0.440 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
0.440 CausalMutation disease CLINVAR Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer. 26315354 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.440 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
0.440 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
Hereditary Breast and Ovarian Cancer Syndrome
0.440 GeneticVariation disease CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. 23448497 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.440 GeneticVariation disease CLINVAR Prevalence of PALB2 mutations in breast cancer patients in multi-ethnic Asian population in Malaysia and Singapore. 23977390 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR PALB2 sequencing in Italian familial breast cancer cases reveals a high-risk mutation recurrent in the province of Bergamo. 24556926 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Breast-cancer risk in families with mutations in PALB2. 25099575 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.440 GeneticVariation disease BEFREE Such subsets of familial pancreatic cancer involve germline cationic trypsinogen or PRSS1 mutations (hereditary pancreatitis), BRCA2 mutations (usually in association with hereditary breast-ovarian cancer syndrome), CDKN2 mutations (familial atypical mole and multiple melanoma), or DNA repair gene mutations (e.g., ATM and PALB2, apart from those in BRCA2). 24395243 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.440 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
0.440 CausalMutation disease CLINVAR PALB2 mutations in familial breast and pancreatic cancer. 21365267 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR PALB2 mutations in German and Russian patients with bilateral breast cancer. 21165770 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Contribution of inherited mutations in the BRCA2-interacting protein PALB2 to familial breast cancer. 21285249 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.440 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 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Structural basis for recruitment of BRCA2 by PALB2. 19609323 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.440 CausalMutation disease CLINVAR Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. 17200671 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.440 GeneticVariation disease ORPHANET