Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To identify missing BC heritability resulting from relatively rare variants (minor allele frequency ≤ 1%), we have performed whole exome sequencing followed by variant analysis in a virtual panel of 492 cancer-associated genes on BC patients from BRCA1 and BRCA2 negative families with elevated BC risk.
|
30947698 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Certain genetic predisposition factors, such as BRCA1 and BRCA2 mutations play a pivotal role in familial breast cancer development in both males and females.
|
31228304 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.
|
31331294 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
BRCA1 gene mutations account for about 25-28% of hereditary Breast Cancer as BRCA1 is included in the category of high penetrance genes.
|
29452958 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This is while women with multiple hereditary breast cancer risk criteria were enriched for <i>BRCA1/2</i> mutations.
|
31451522 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
<b>Expert opinion</b>: The transition to multi-gene panels in breast cancer patients has improved the likelihood of capturing a rare variant in a well-established gene associated with hereditary breast cancer (e.g.<i>BRCA1 and BRCA2, TP53</i>).
|
31469018 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most important cause of developing hereditary breast cancer is germline mutations occurring in breast cancer (BCs) susceptibility genes, for example, BRCA1, BRCA2, TP53, CHEK2, PTEN, ATM, and PPM1D.
|
30552672 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Because nothing is known about the contribution of <i>BRCA1/2</i> germline mutations to early-onset and hereditary breast and/or ovarian cancer in Afro-Colombians, we conducted the first study on 60 patients with early-onset and familial breast cancer in this population.
|
30541753 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in <i>BRCA1</i> and <i>BRCA2</i> (<i>BRCA1/2</i>) genes are present in about 50% of cases of hereditary breast cancer.
|
31658756 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
On the basis of its occurrence in hereditary breast cancer and its identification in pedigree, as well as its function as a disruption of BRCA1, this mutation is critical to breast cancer predisposition and progression.
|
31476665 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from multiple ethnicities, but limited information is available from sub-Saharan African populations.
|
31060517 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Exome Sequencing in <i>BRCA1-</i> and <i>BRCA2</i>-Negative Greek Families Identifies <i>MDM1</i> and <i>NBEAL1</i> as Candidate Risk Genes for Hereditary Breast Cancer.
|
31681433 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study aims to identify mutations in BRCA1-2 genes in women with familial breast cancer from different regions of Colombia.
|
31341521 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We analyzed 113 DNA repair genes selected from either an exome sequencing or a candidate gene approach in the GENESIS study, which includes familial BC cases with no BRCA1 or BRCA2 mutation and having a sister with BC (N = 1,207), and general population controls (N = 1,199).
|
30303537 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the prevalence of BRCA1/2 mutations in patients with high-risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection of BRCA1/2 mutations in Chinese patients with hereditary breast cancer.
|
30968603 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Germline mutations occurring in the highly penetrant genes BRCA1 and BRCA2 are responsible for only certain cases of familial breast cancer (BC) and ovarian cancer (OC).
|
30733081 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
The inheritance of mutated suppressor genes, such as BRCA1 and BRCA2, is acknowledged as an etiological factor in hereditary breast carcinoma (HBC).
|
31518337 |
2019 |
Breast Cancer, Familial
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Here, we used expression data of 391 patients with familial breast cancer including 195 non-BRCA1/A2 and 196 BRCA1 and/or BRCA2 cases from four independent studies by means of meta-analysis to find differences in gene expression signature between these two types of familial breast cancer.
|
30125992 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Twenty-five unrelated female patients diagnosed with familial breast cancer were screened for BRCA1/2 variants.
|
31131559 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Odds ratios for hereditary breast cancer were 87.6 for BRCA1, 15.4 for PALB2, 7.2 for CHEK2, 2.8 for NBN and 15.8 for RECQL.
|
31173646 |
2019 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Majority of the BRCA1 and BRCA2 mutations are associated with the risk of sporadic and familial breast cancer.
|
30430339 |
2019 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
We found that 20 index patients (2.4%) in the FBC group carried a BRCA1 or BRCA2 LGR, and the frequencies of BRCA1 and BRCA2 LGRs were 1.6% and 0.8%, respectively.
|
29582426 |
2018 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Hereditary breast cancer is predominantly associated with germline mutations in the BRCA1 or BRCA2 genes.
|
29086229 |
2018 |
Breast Cancer, Familial
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have screened over 6,000 early-onset and/or familial breast cancer (BC) cases collected by the ENIGMA consortium for sequence variants in the 5' noncoding regions of BC susceptibility genes BRCA1 and BRCA2, and identified 141 rare variants with global minor allele frequency < 0.01, 76 of which have not been reported previously.
|
30204945 |
2018 |
Breast Cancer, Familial
|
0.400 |
Biomarker
|
disease |
BEFREE |
Excluding duplicate variants (same ancestry, laboratory, classification), generalized linear models for the hereditary breast cancer genes (BRCA1/2) and other variants investigated whether rate of reclassification differed for seven categories of ancestry compared with non-Hispanic European.
|
29618041 |
2018 |