|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that novel missense variants within the helicase domain of BRIP1 may confer risk for both breast and ovarian cancer and highlight the importance of functional testing for additional variants.
|
31822495 |
2020 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This includes unaffected women who have completed their family and have RAD51C, RAD51D, or BRIP1 gene mutations; first-degree relatives of women with invasive epithelial ovarian cancer; BRCA mutation-negative women from high-risk breast-and-ovarian cancer or ovarian-cancer-only families.
|
29252925 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Population-based BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2 testing can prevent 1.86%/1.91% of BC and 3.2%/4.88% of OC in UK/US women: 657/655 OC cases and 2420/2386 BC cases prevented per million.
|
29361001 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Based on the negative association between BRIP1 LoF mutations and familial BC in the absence of an OC family history, we conclude that the elevated mutation prevalence in the latter cohort was driven by the occurrence of OC in these families.
|
29368626 |
2018 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Aberrations in BRIP1 have been mainly associated with the development of breast cancer (BC), ovarian cancer, and type J Fanconi anemia.
|
26709662 |
2016 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Deleterious germline mutations in BRIP1 are associated with a moderate increase in EOC risk.
|
26315354 |
2015 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
Biomarker
|
disease |
BEFREE |
FANCJ is a DNA helicase that is genetically linked to Fanconi anemia, breast cancer, and ovarian cancer.
|
24573678 |
2014 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
Biomarker
|
disease |
BEFREE |
Ovarian tumors from heterozygous carriers of the Icelandic mutation show loss of the wild-type allele, indicating that BRIP1 behaves like a classical tumor suppressor gene in ovarian cancer.
|
21964575 |
2011 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, common variants in the BRIP1 are candidates for breast and ovarian cancer susceptibility.
|
17342202 |
2007 |
|
Carcinoma, Ovarian Epithelial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FA proteins, including a ubiquitin ligase (FANCL), a monoubiquitinated protein (FANCD2), a helicase (FANCJ/BACH1/BRIP1), and a breast/ovarian cancer susceptibility protein (FANCD1/BRCA2), appear to cooperate in a pathway leading to the recognition and repair of damaged DNA.
|
16493006 |
2006 |