Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function. 18628483 2008
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer. 19127258 2009
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease. 24556621 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1. 21345144 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 27443514 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. 26921362 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels. 28961279 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 25980754 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. 19763819 2010
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Genetic testing in a cohort of young patients with HER2-amplified breast cancer. 26681682 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control. 21127055 2011
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. 16116424 2005
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. 17033622 2006
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR FANCJ is essential to maintain microsatellite structure genome-wide during replication stress. 27179029 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes. 28495237 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.760 CausalMutation disease CLINVAR Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA. 26556299 2016