Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.800 CausalMutation disease CLINVAR "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." 28265380 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 CausalMutation disease CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.800 CausalMutation disease CLINVAR "Mutational spectrum in breast cancer associated 29021639 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE <i>BRCA1/2</i> mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. 29487695 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE <i>BRCA1/2</i> screening in Hereditary Breast and Ovarian Syndrome (HBOC) is an essential step for effective patients' management. 29570666 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE 'Indirect' BRCA1/2 testing: a useful approach in hereditary breast and ovarian cancer families without a living affected relative. 16098011 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE 50 patients diagnosed with HBOC in the Latvian Cancer Registry from January 2005 to December 2008 were screened for BRCA1 founder mutation-negatives and subjected to targeted resequencing of BRCA1 and BRCA2 genes. 23767878 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE : Hereditary breast and ovarian cancer (HBOC) syndrome is attributed mostly to mutations in the Breast Cancer 1 and Breast Cancer 2 genes (BRCA1/2). 22048556 2011
Hereditary Breast and Ovarian Cancer Syndrome
0.800 CausalMutation disease CLINVAR BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. 29088781 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 CausalMutation disease CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. 12442265 2002
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Familial breast/ovarian cancer and BRCA1/2 genetic screening: the role of immunohistochemistry as an additional method in the selection of patients. 17625228 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer due to mutations in BRCA1 and BRCA2. 20216074 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome. 20494261 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer are mainly linked to mutations in BRCA1 and BRCA2 genes which confer a similar cumulative risk of developing breast cancer. 25395318 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited condition associated with mutations in the BRCA1 or BRCA2 (BRCA) genes. 26637472 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer is an inherited syndrome associated with BRCA1/2 germline defects. 28277317 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer syndrome (HBOC) is a hereditary tumor that can be definitively diagnosed by detection of germline mutation of the BRCA1 or BRCA2 gene. 28833906 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Hereditary breast and ovarian cancer syndrome (HBOC) is most frequently caused by mutations in BRCA1 or BRCA2 (in short, BRCA) genes. 29659587 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. 10449599 1999
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1 is a tumor suppressor gene that is responsible for hereditary breast and ovarian cancer syndrome. 12552965 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1 is a tumor suppressor gene mutated in cases of hereditary breast and ovarian cancer. 12700228 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. 15378542 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships. 15633195 2005
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1, a tumor suppressor gene on chromosome 17q21, was identified in 1994 based on its linkage to hereditary breast and ovarian cancer syndromes. 15975711 2006