Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For both BRCA1 and BRCA2 mutation carriers, none of the smoking-related variables was associated with BC risk, except smoking for more than five years before a first full-term pregnancy (FFTP) when compared to parous women who never smoked.
|
31792088 |
2020 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
BRCA2 mutation carriers had a significantly higher frequency of CNS metastasis than noncarriers when controlling for breast cancer subtype.
|
31581314 |
2020 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have successfully identified a novel, germline heterozygous, missense mutation of the gene BRCA2: c.7007G>T, p.R2336L, which is likely to be pathogenic in the proband and her elder sister who both had breast cancer.
|
31782247 |
2020 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our study revealed a potential novel gene and multiple disruptive variants of BRCA2 for breast cancer risk, which may identify high-risk women in Chinese populations.This article is protected by copyright.All rights reserved.
|
31837001 |
2020 |
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
BEFREE |
Eight PVs in ATM, BRCA2 (x2), PALB2, RAD51D, BRIP1, and MUTYH (x2) were identified in 7 of 44 individuals with breast cancer (15.9%, 95% CI: 7-30%), whereas none were identified in healthy controls (p = .01).
|
31575519 |
2020 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Poly (ADP-ribose) polymerase (PARP) inhibitors exploit this deficiency through synthetic lethality and have emerged as promising anticancer therapies, especially in breast cancer gene (BRCA1 or BRCA2) mutation carriers.
|
31650446 |
2020 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
For BRCA mutation carriers, potential augmentation of already elevated breast cancer risk is of great concern.
|
30661763 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of 1054 BRCA-negative, high-risk Hispanic women, 4.5% carried a PV in a cancer susceptibility gene, increasing understanding of hereditary BC in this population.
|
31206626 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We found that two polymorphic variants, rs1799967 (BRCA1) and rs4987117 (BRCA2), were strongly associated with the risk of BC.
|
30611917 |
2019 |
Malignant neoplasm of breast
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Breast cancer type 1 and 2 susceptibility protein (BRCA1 and BRCA2) expression and <i>BRCA1/BRCA2</i> mRNA expression were evaluated using immunohistochemistry (IHC) and <i>in-situ</i> hybridization (ISH) on tissue GC microarray tissues, in addition to reverse transcription-quantitative polymerase chain reaction (RT-qPCR).
|
30988810 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in two highly penetrance breast cancer susceptibility genes, BRCA1 and BRCA2, can only explain 20% to 25% of genetic susceptibility to breast cancer, and most familial breast cancer cases have intact BRCA1 and BRCA2 genes that refer to non-BRCA1/A2 or BRCAX familial breast cancer.
|
30125992 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
During the surveillance period, 5 individuals with BRCA1 or BRCA2 mutations were diagnosed with primary breast cancer.
|
30980249 |
2019 |
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
BEFREE |
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
|
30947698 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thousands of women in the USA would potentially benefit from genetic testing for BRCA1, BRCA2, and other breast cancer genes that markedly increase their risk of developing breast cancer.
|
30941656 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Comparing the spectrum of BRCA1/2 mutation between KoOC and Korean breast cancer (KoBC) patients, the ratio of BRCA1-to-BRCA2 mutations was different, with BRCA1 (78.4%) being predominant in KoOC and BRCA2 in KoBC (59.2%).
|
30309222 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The patient's son had been diagnosed with breast cancer 2.5 years ago and was found to have the same germline BRCA2 mutation.
|
31631483 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Women who inherit a BRCA1 or BRCA2 mutation have an increased risk of breast cancer.
|
31407530 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BRCA1 and BRCA2 are the most prominent cause of breast cancer.
|
30188759 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Folic acid supplement use and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a case-control study.
|
30603998 |
2019 |
Malignant neoplasm of breast
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because one of the early onset genes in breast cancer is the BRCA2, the presence of any of C and T alleles can have a significant effect on the incidence of the disease.
|
30706682 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most data were available for DDR panels (n=12 studies), ataxia telangiectasia mutated (ATM; n=13), breast cancer susceptibility gene (BRCA)1 (n=14) and BRCA2 (n=20).
|
31322208 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Yet, while germline breast cancer susceptibility gene 1 (BRCA1) and breast cancer susceptibility gene 2 (BRCA2) testing is commonly performed, BRCA1/2 somatic mutations testing is rather challenging since the poor quality of DNA extracted from formalin fixed paraffin embedded (FFPE) samples can significantly impair this process.
|
30392916 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These observations indicate that BRCA1/BRCA2 mutation carriers with ER-positive BC represent high-risk patients.
|
31141992 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinically significant mutations of the BRCA1/BRCA2 genes are related to an increased susceptibility for breast cancer.
|
31228304 |
2019 |
Malignant neoplasm of breast
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinically actionable BC susceptibility PVs, particularly in BRCA2 and CHEK2, were relatively prevalent among older women undergoing genetic testing.
|
31012959 |
2019 |