|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome (LS) he or she will be asked to inform at-risk family members about the option for presymptomatic DNA testing.
|
29846880 |
2019 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Germline promoter hypermethylation of BRCA1 and BRCA2 genes is an alternative event of gene silencing that has not been widely investigated in hereditary breast and ovarian cancer (HBOC) syndrome.
|
29404838 |
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 |
GeneticVariation
|
disease |
BEFREE |
In total, 3310 female BRCA1/2 mutation carriers participating in a nationwide prospective cohort (Hereditary Breast and Ovarian Cancer in the Netherlands) were included.
|
29483665 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
|
29712865 |
2018 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
|
30254663 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.
|
30078507 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
|
30093976 |
2018 |
|
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 |
CLINVAR |
Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.
|
29936257 |
2018 |
|
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 |
Biomarker
|
disease |
BEFREE |
Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits.
|
29580810 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients affected with GCSs have been occasionally reported in Hereditary Breast Ovarian Cancer (HBOC) families, including a few cases with pathogenic variants in BRCA1/BRCA2 genes.
|
29405995 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.
|
29673794 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
|
28490613 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Accurate classification of BRCA1 variants with saturation genome editing.
|
30209399 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
|
29446198 |
2018 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
|
29297111 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.
|
29661970 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
The germline mutational landscape of BRCA1 and BRCA2 in Brazil.
|
29907814 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
|
30262796 |
2018 |
|
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 |