Neoplastic Syndromes, Hereditary
|
0.150 |
Biomarker
|
group |
BEFREE |
Here we tested the performance of the Ion Torrent PGM platform with the Ion AmpliSeq BRCA1 and BRCA2 Panel in our clinical routine of breast/ovarian hereditary cancer syndrome assessment.
|
31065452 |
2019 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
The yield of targeted genotyping for the recurring mutations in BRCA1/2 in Israel.
|
29086229 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.
|
28802053 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
|
29446198 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.
|
29335924 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?
|
28493033 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
|
29339979 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Mutations in context: implications of BRCA testing in diverse populations.
|
28918466 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.
|
29337092 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
Biomarker
|
group |
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 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway.
|
29339979 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
|
29176636 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Characterization of mutations in BRCA1/2 and the relationship with clinic-pathological features of breast cancer in a hereditarily high-risk sample of chinese population.
|
29435039 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.
|
29297111 |
2018 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.
|
28176296 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
"A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer."
|
28265380 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene
|
28390335 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.
|
28408614 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
GeneticVariation
|
group |
CLINVAR |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
|
28324225 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
|
28324225 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers.
|
28477318 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Lost in translation: returning germline genetic results in genome-scale cancer research.
|
28454591 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
|
28503720 |
2017 |
Neoplastic Syndromes, Hereditary
|
0.150 |
CausalMutation
|
group |
CLINVAR |
A high frequency of PALB2 mutations in Jamaican patients with breast cancer.
|
28194609 |
2017 |