|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
|
16434590 |
2006 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We performed a mutation screening ofthe entire codingregion of the BRCA1 gene in 29 Slovak families suspected of having inherited predisposition to breast cancer.
|
11949836 |
2001 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We wanted to compare the sensitivities of breast magnetic resonance imaging (MRI) and the conventional screening programme consisting of mammography (XRM) +/- ultrasound for early diagnosis of breast cancer in BRCA1/2 mutation carriers.
|
17317184 |
2007 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Methylation of p16 was associated with a known BRCA1 mutation (P = 0.001, P < 0.001, and P < 0.001 for breast, duct, and sample levels, respectively) and women with a history of contralateral BC (P = 0.001 and P < 0.001 for duct and sample levels, respectively).
|
20056647 |
2010 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
<i>In vivo</i> therapeutic targeting of EF2K by CoFe-siRNA-nanoparticles leads to sustained <i>EF2K</i> gene knockdown and suppressed tumor growth in orthotopic xenograft models of BRCA1-mutated breast cancer.
|
31432749 |
2019 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of <i>BRCA1/2</i> small-range mutations and large genomic rearrangements was 55.4% (36/65) for families with breast and ovarian cancer, 27.4% (67/244) for families with two or more cases of breast cancer, 18.5% (5/27) for families with male breast cancer, and 12.3% (25/203) for families with a single case of early-onset breast cancer.
|
31528241 |
2019 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The objective of this study was to determine the factors associated with decisions about clinical BRCA1/2 testing among women undergoing clinical BRCA1/2 counseling through a retrospective cohort study of women who participated in a university-based clinic offering breast cancer risk assessment, genetic counseling, and BRCA1/2 testing between January 1996 and April 1998.
|
11097234 |
2000 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations.
|
20652397 |
2011 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A total of 325 Japanese women with breast cancer (BC) (with or without invasive cancer) were referred for genetic counseling and underwent genetic testing for mutations in the BRCA1 and BRCA2 genes in Showa University Hospital between December 2011 and August 2016.
|
30652428 |
2019 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A pilot breast cancer screening study including ductal lavage was conducted in 75 women at high inherited risk, 56 (74.7%) of whom had BRCA1/2 mutations.
|
15894656 |
2005 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To systematically identify rare, probably pathogenic variants in familial cases of breast cancer without BRCA1/2 mutations, we developed a list of 312 genes, and performed targeted DNA enrichment coupled to multiplex next-generation sequencing on 104 'BRCAx' patients and 101 geographically matched controls in Ireland.
|
26094658 |
2015 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Inactivating and truncating mutations of the nuclear BRCA1-interacting protein 1 (BRIP1) have been shown to be the major cause of Fanconi anaemia and, due to subsequent alterations of BRCA1 function, predispose to breast cancer (BC).
|
17504528 |
2007 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women's treatment choices - treatment-focused genetic testing 'TFGT' - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women.
|
22838957 |
2012 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study shows that BRCA1 and BRCA2 account for the majority of genetic predisposition to breast cancer in our cohort of Asian women.
|
26757417 |
2016 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These observations suggested that loss of functional BRCA1 in female cells may perturb the process of X inactivation and have lead us to the hypothesis that analysis of skewing could be used as a predictive test for BRCA1 germline mutation in lymphocytes from breast cancer patients.
|
16944269 |
2007 |
|
Breast Carcinoma
|
0.700 |
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 Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Steroid receptor-positive BRCA-related breast cancer in this proband supports the idea of characteristic pathological features and older age of onset among BRCA1-mutated ER-positive breast cancers.
|
20804917 |
2010 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic variants in <i>BRCA1, BRCA2</i> and <i>PALB2</i> DNA repair genes are associated with high risk of developing breast cancer.
|
30410870 |
2018 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Meta-analytic mean cumulative cancer risks for mutation carriers at age 70 years were as follows: breast cancer risk of 57% (95% CI, 47% to 66%) for BRCA1 and 49% (95% CI, 40% to 57%) for BRCA2 mutation carriers; and ovarian cancer risk of 40% (95% CI, 35% to 46%) for BRCA1 and 18% (95% CI, 13% to 23%) for BRCA2 mutation carriers.
|
17416853 |
2007 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Detection of large deletion in human BRCA1 gene in human breast carcinoma MCF-7 cells by using DNA-Silver Nanoclusters.
|
28858858 |
2017 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ethnic variations in breast cancer epidemiology and genetics have necessitated investigation of the spectra of BRCA1 and BRCA2 mutations in different populations.
|
22970155 |
2012 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Ethnic differences of breast cancer genomics have prompted us to investigate the spectra of BRCA1 and BRCA2 mutations in different populations.
|
27082205 |
2016 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm the existence of the protective effect of an increasing number of full-term pregnancies (FTPs) toward BC among BRCA1 and BRCA2 mutation carriers (≥3 versus 0 FTPs: hazard ratio (HR) = 0.51, 95% confidence interval (CI) = 0.33 to 0.81).
|
22762150 |
2012 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that the lifetime breast cancer risk in BRCA2 carriers, for at least a subset of mutations, is comparable to that for BRCA1.
|
9245992 |
1997 |
|
Breast Carcinoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, linkage analyses of large families with a predisposition to breast cancer have been performed in order to map breast cancer susceptibility genes (TP53, BRCA1, BRCA2).
|
8605112 |
1995 |