|
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Malignant neoplasm of ovary
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Malignant neoplasm of ovary
|
0.700 |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thus, common variants in the BRIP1 are candidates for breast and ovarian cancer susceptibility.
|
17342202 |
2007 |
|
Malignant neoplasm of ovary
|
0.700 |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
Biomarker
|
disease |
CTD_human |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
GWASDB |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
Biomarker
|
disease |
BEFREE |
FANCJ is a DNA helicase that is genetically linked to Fanconi anemia, breast cancer, and ovarian cancer.
|
24573678 |
2014 |
|
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thirty-one percent of ovarian carcinomas had a deleterious germline (24%) and/or somatic (9%) mutation in one or more of the 13 homologous recombination genes: BRCA1, BRCA2, ATM, BARD1, BRIP1, CHEK1, CHEK2, FAM175A, MRE11A, NBN, PALB2, RAD51C, and RAD51D.
|
24240112 |
2014 |
|
Malignant neoplasm of ovary
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found an increased frequency of deleterious mutations in BRIP1 in case patients (0.9%) and in the UKFOCSS participants (0.6%) compared with control patients (0.09%) (P = 1 x 10(-4) and 8 x 10(-4), respectively), but no differences for BARD1 (P = .39), NBN1 ( P = .61), or PALB2 (P = .08).
|
26315354 |
2015 |
|
Malignant neoplasm of ovary
|
0.700 |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
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 |
|
Malignant neoplasm of ovary
|
0.700 |
Biomarker
|
disease |
BEFREE |
Population panel testing for <i>BRCA1/BRCA2/RAD51C/RAD51D/BRIP1/PALB2</i> gene mutations is the most cost-effective genetic-testing strategy in general-population women and can prevent thousands more breast and ovarian cancers than current clinical-criteria based approaches.
|
30400647 |
2018 |
|
Malignant neoplasm of ovary
|
0.700 |
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 |