Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Frequencies of malformation in BRCA2 and MMR mutated families were similar to families without a cancer syndrome.
|
30785647 |
2020 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Those with a personal history of cancer or a positive BRCA2 mutation demonstrated significantly increased worry about developing other types of cancer at baseline (p < 0.01).
|
31625003 |
2020 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A polymorphic form of NQO1 (p.P187S) is associated with increased cancer risk and certain neurological disorders (such as multiple sclerosis and Alzheimer´s disease), possibly due to its roles in the antioxidant defence. p.P187S has greatly reduced FAD affinity and stability, due to destabilization of the flavin binding site and the C-terminal domain, which leading to reduced activity and enhanced degradation.
|
31091472 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Matched germline/tumour WGS and somatic mutational signature analysis revealed patients with unreported, dual pathogenic germline variants in cancer risk genes (BRCA1/BRCA2; BRCA1/MUTYH).
|
31090900 |
2019 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Suppression of BRCA2 expression by siRNA or shRNA increased the sensitivity to 6-TG- and olaparib-induced apoptosis but did not affect cancer cell response to taxane.
|
31284411 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Germline mutations of the genes BRCA1 and BRCA2, which encode proteins essential for the repair of double-strand DNA breaks through homologous recombination, lead to increased cancer predisposition.
|
30691488 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
How do mutations affecting the breast cancer genes BRCA1 and BRCA2 cause cancer susceptibility?
|
31337537 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Our findings help to explain the association of this variant with a lower cancer risk in BRCA2 mutation carriers and highlight the importance of genetic changes in BER pathway genes as modifiers of cancer susceptibility for BRCA1 and BRCA2 mutation carriers.
|
30747491 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Data from the IMPACT study ( ClinicalTrials.gov NCT00261456) that the cancer detection rate is substantially elevated in BRCA1 and BRCA2 carriers at prostate specific antigen greater than 3 ng/ml has helped establish the importance of close prostate specific antigen screening in these men.
|
30730411 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Panel screening of 56 other cancer predisposition genes did not reveal other germline pathogenic variants associated with melanoma (CDK4, BAP1, POT1), although pathogenic variants in TP53, CHEK2, and BRCA2 were present in three separate patients and some patients had variants of uncertain significance.
|
31567591 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The mESC-based BRCA2 functional assay can reliably determine the functional impact of VUS, distinguish between pathogenic and nonpathogenic variants, and may contribute to improved cancer risk estimation for BRCA2 VUS carriers.
|
29988080 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
BRCA2, a DDR and cancer susceptibility gene, is frequently deleted (homozygous and heterozygous) in men with aggressive prostate cancer.
|
31796516 |
2019 |
Primary malignant neoplasm
|
0.100 |
AlteredExpression
|
group |
BEFREE |
To understand this paradoxical condition of a tumour suppressor protein facilitating cancer cell survival, in the current study, we investigate the role of RAD52 overexpression in BRCA2 deficient cells.
|
30590106 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in BRCA1 and BRCA2 (BRCA) genes confer high risk of developing cancer, especially breast and ovarian tumors.
|
31067289 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Loss of heterozygosity accompanied by hereditary mutations in BRCA1 or BRCA2 increases chromosomal instability and the likelihood of cancer, as well as playing a key role in stimulating malignant transformation.
|
30552672 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Talking across generations: Family communication about BRCA1 and BRCA2 genetic cancer risk.
|
30694012 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
BRCA2 mutation increases the risks of aggressive PCa and other cancer types in Japanese males.
|
31631483 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
However, the phenotypic and therapeutic relevance of mutations in BRCA1 or BRCA2 remains poorly defined in most cancer types.
|
31292550 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Paradoxically, loss of Brca2 in mice results in embryonic lethality, whereas cancer cells can tolerate BRCA2 loss.
|
30177840 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
In this study, we found that forced mitotic entry upon ATR inhibition potentiates cytotoxic effects of PARP inhibition using olaparib in BRCA2-depleted and Brca2 knockout cancer cell line models.
|
31529615 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Independent data types currently incorporated in the model for assessing BRCA1 and BRCA2 variants include clinically calibrated prior probability of pathogenicity based on variant location and bioinformatic prediction of variant effect, co-segregation, family cancer history profile, co-occurrence with a pathogenic variant in the same gene, breast tumor pathology, and case-control information.
|
31131967 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.
|
30971774 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In this work, binding of anions to the FAD binding pocket of human NAD(P)H:quinone oxidoreductase 1 (NQO1), a flavoprotein associated with cancer due to a common polymorphism causing a P187S amino acid substitution, was investigated.
|
30615965 |
2019 |
Primary malignant neoplasm
|
0.100 |
Biomarker
|
group |
BEFREE |
Cancer incidence rate per 1000 person years was higher in BRCA2 carriers than in noncarriers (19.4 vs 12.0; p = 0.03); BRCA2 carriers were diagnosed at a younger age (61 vs 64 yr; p = 0.04) and were more likely to have clinically significant disease than BRCA2 noncarriers (77% vs 40%; p = 0.01).
|
31537406 |
2019 |
Primary malignant neoplasm
|
0.100 |
GeneticVariation
|
group |
BEFREE |
New loci included common variants in BRCA2 (distinct to known rare high penetrance cancer risk variants), and in CTLA4, a target of immunotherapy in melanoma.
|
31174203 |
2019 |