Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Most of the predisposition to hereditary breast and ovarian cancer has been attributed to inherited defects in two tumor suppressor genes BRCA1 and BRCA2. 26625823 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Characterization of a new BRCA1 rearrangement in an Italian woman with hereditary breast and ovarian cancer syndrome. 28488140 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Among the 37 hereditary breast/ovarian cancer (HBOC) families selected, all had a high prior probability of BRCA1 mutation, and 15 were previously shown to carry a mutation in either the BRCA2 (five families) or BRCA1 gene (10 families, including one genomic rearrangement). 12700174 2003
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE The identification of the BRCA1 gene is a powerful tool for predicting a patient's lifetime risk for carcinoma of the breast and ovary when she has hereditary breast/ovarian carcinoma (HBOC) syndrome. 9179070 1997
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Since nothing is known about the contribution of BRCA1 and BRCA2 germline mutations to hereditary breast/ovarian cancer in the Hispanic population from Colombia, we conducted the first study of 53 breast/ovarian cancer families from this country. 17080309 2007
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
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE We recommend BRCA1/2 genetic testing to all Chinese women diagnosed with EOC to identify HBOC families, to provide genetic counseling and clinical management for at-risk relatives. 28176296 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE BRCA1/2 mutation carriers and women from a hereditary breast(/ovarian) cancer family have a highly increased risk of developing breast cancer (BC). 17541692 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE A method was developed for the detection of 185delAG mutation in BRCA1 gene, which is responsible for 85% and 63% lifetime risks of hereditary breast and ovarian cancer in women, respectively. 27657359 2016
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Young women who carry BRCA1/2 mutations face difficult decisions in managing their hereditary breast/ovarian cancer risk. 22927701 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Two to 6 personal disease-risk findings were discovered in each participant, including 1 frameshift deletion in the BRCA1 gene implicated in hereditary breast and ovarian cancer. 24618965 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Half the PVs identified among individuals who met only HBOC testing criteria were in genes other than BRCA1/2. 29153097 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Content analysis of print news was conducted to identify major frames used in press coverage, the overall tone of discussions, how journalists report broader questions about BRCA1/2 testing and hereditary breast/ovarian cancer, and whether they raise concerns about the impact of celebrities on patients' choices and public opinion. 24357851 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE The detection of pathogenic <i>BRCA1/2</i> variants is essential for the diagnosis and prevention of HBOC, and for offering treatment decisions for patients. 29383094 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE In the absence of a mutation that has been previously identified in a family member, most tests for hereditary breast-ovarian cancer risk analyze the entire coding sequences of BRCA1 and BRCA2. 10539900 1999
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE This paper illustrates the role of genetic risk assessment for hereditary breast cancer, using hereditary breast and ovarian cancer (HBOC) syndrome as a model due to germline mutations in the BRCA1 and BRCA2. 23037493 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Women with germline mutations in the cancer susceptibility genes, BRCA1 or BRCA2, associated with Hereditary Breast & Ovarian Cancer syndrome, have up to an 85% lifetime risk of breast cancer and up to a 46% lifetime risk of ovarian, tubal, and peritoneal cancers. 25238946 2015
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Germline mutations in BRCA1 and BRCA2 account for majority of hereditary breast and ovarian cancer. 15024741 2004
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE To determine the validity of observations suggesting a significant dichotomy of gynecologic cancers determined by linkage to specific genetic defects associated with two major autosomal dominant hereditary cancer syndromes; the Creighton University Hereditary Cancer Registry was searched for female carriers of germ line mutations in BRCA1 and BRCA2, associated with the Hereditary Breast Ovarian Cancer syndrome, and in the mismatch repair (MMR) genes MLH1, MSH2 and MSH6, associated with Lynch syndrome, who were registered with invasive uterine, ovarian, fallopian tube or peritoneal cancers between January 1, 1959 and December 31, 2010. 23666231 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer. 29522266 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. 19775331 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE This report describes a commercial laboratory's novel approach to providing genetic testing services to detect BRCA1 mutations in persons with hereditary breast/ovarian cancer. 10464638 1997
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Here, we describe two novel BRCA1 large deletions detected in Italian patients affected by hereditary breast and ovarian cancer syndrome (HBOC). 30506513 2019
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