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 |