ovarian neoplasm
|
0.490 |
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 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
|
29368626 |
2018 |
ovarian neoplasm
|
0.490 |
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 |
ovarian neoplasm
|
0.490 |
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 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.
|
29368626 |
2018 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer.
|
28423363 |
2017 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes.
|
28495237 |
2017 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.
|
26786923 |
2016 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
ovarian neoplasm
|
0.490 |
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 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort.
|
27443514 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Improving performance of multigene panels for genomic analysis of cancer predisposition.
|
26845104 |
2016 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.
|
26921362 |
2016 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
|
27153395 |
2016 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.
|
27165003 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
|
26681682 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Inherited Mutations in Women With Ovarian Carcinoma.
|
26720728 |
2016 |
ovarian neoplasm
|
0.490 |
GeneticVariation
|
disease |
CLINVAR |
Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
|
27498913 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.
|
26976419 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Patterns and functional implications of rare germline variants across 12 cancer types.
|
26689913 |
2015 |
ovarian neoplasm
|
0.490 |
CausalMutation
|
disease |
CLINVAR |
Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.
|
26315354 |
2015 |