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 Mothers who participate in genetic testing for hereditary breast/ovarian cancer risk must decide if, when, and how to ultimately share their BRCA1 and BRCA2 (BRCA1/2) test results with their minor-age children. 17949286 2007
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Black women have a higher rate of BRCA1 and BRCA2 (BRCA) mutations, compared with other populations, that increases their risk for hereditary breast and ovarian cancer (HBOC). 27866793 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE BRCA1, the susceptibility gene for hereditary breast-ovarian cancer, is located on chromosome 17q12-21 but has not yet been identified. 8024576 1994
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE The concurrence of NF1 and hereditary breast/ovarian cancer in this family is likely due to the presence of two linked mutations at the NF1 and BRCA1 loci. 12217765 2002
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 GeneticVariation disease BEFREE This qualitative study explores the communication and decision-making strategies of five families with hereditary breast and ovarian cancer (HBOC) risk.Investigators asked female carriers of BRCA1 and BRCA2 genetic mutations to recall early knowledge and experiences concerning cancer risk.Husbands and children (aged 15-25 years) of women with HBOC risk also were interviewed on knowledge, experiences, and expectations for future decisions regarding their risk.Themes derived from the interviews suggested a need for additional studies of families with HBOC risk to address how family history and other factors influence decision making.Nurses should assess patients and their families for issues with body image and adjustment after cancer treatment and offer appropriate support.In addition, parents should be advised on when and how to tell children about their potential risk and support their testing and health-promotion decisions. 19193551 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Lynch syndrome and BRCA-1 and BRCA-2-associated hereditary breast and ovarian cancer are hereditary cancer syndromes frequently involving the gynaecological tract but tumours associated with similar molecular alterations may also occur sporadically. 29287922 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. 23289006 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Women with a BRCA1/2 mutation or members of a hereditary breast ovarian cancer family (HBOC) have an increased risk of developing ovarian cancer. 20409655 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE The recent identification of the BRCA1 gene in early-onset hereditary site-specific breast cancer and the HBOC syndrome has led to new challenges for the genetic counselor. 8197773 1994
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Moreover, the detection of the TP53 R337H variant in our series and the fact that this variant has a founder effect in our population prompted us to suggest that all female breast cancer patients with clinical criteria for HBOC and negative for BRCA1/2 genes should be tested for the TP53 R337H variant. 24884479 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Until recently, the molecular diagnosis of hereditary breast and ovarian cancer (HBOC) was mostly based on BRCA1/2 testing. 27779110 2017
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 GeneticVariation disease BEFREE As high-grade ovarian tubal serous carcinoma is known to be associated with BRCA1/2 pathogenic germline mutations (PMs), we aimed to explore whether USC is also a constituent of hereditary breast and ovarian cancer syndrome. 28049106 2017
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Subsequently, we applied the classifier to 48 breast tumours of patients from Hereditary Breast and Ovarian Cancer (HBOC) families in whom no germ line BRCA1/BRCA2 mutations were identified. 18704682 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Correction: BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population? 29750819 2018
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 GeneticVariation disease BEFREE Fifty-four VUSs identified in 53 hereditary breast/ovarian cancer (HBOC) patients without BRCA1/2 mutation were included in the study. 19471317 2009
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE We identified AJ individuals with breast and/or ovarian cancer undergoing hereditary breast/ovarian cancer risk assessment since 2006 without evidence of a deleterious mutation on BRCA gene sequencing who were screened for major gene rearrangements in BRCA1 and BRCA2. 20221693 2010
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE Before disclosure of BRCA1/2 test results for hereditary breast/ovarian cancer (T1), questionnaires were filled in by 467 cancer-patients. 22777929 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Although similar pathogenic variants in the noncoding region of BRCA1 and 2 were not identified in a cohort of 752 familial breast cancer cases, we still think this finding is relevant for mutation analysis in Hereditary Breast and Ovarian Cancer Syndrome families in a diagnostic setting. 24395671 2014
Hereditary Breast and Ovarian Cancer Syndrome
0.800 Biomarker disease BEFREE The prevalence of BRCA1/2 LRs was investigated in 48,456 patients with diverse clinical histories and ancestries, referred for clinical molecular testing for suspicion of hereditary breast and ovarian cancer. 22544547 2012
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE In addition to this syndrome, gastric cancer risk is elevated in Lynch syndrome associated with germline mutations in DNA mismatch repair genes and microsatellite instability, in hereditary breast and ovarian cancer syndrome due to germline BRCA1 and BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germline p53 mutations, in Peutz-Jeghers syndrome associated with germline STK11 mutations, and in juvenile polyposis syndrome associated with germline mutations in the SMAD4 and BMPR1A genes. 22846738 2013
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE Our results show for the first time in the Mexican population a higher contribution of pathogenic alleles in other susceptibility cancer genes (54%) than in <i>BRCA1/2</i> (46%), highlighting the high locus heterogeneity of HBOC and the necessity of expanding genetic tests for this disease to include broader gene panels. 30262796 2018
Hereditary Breast and Ovarian Cancer Syndrome
0.800 GeneticVariation disease BEFREE A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151 1997