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| Ovarian cancer pertinent cancer susceptibility v1.11 | BRIP1 | Sarah Leigh Publications for gene: BRIP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ovarian cancer pertinent cancer susceptibility v1.10 | BRIP1 | Sarah Leigh Added comment: Comment on phenotypes: Comment on phenotypes: Association of BRIP1 and breast cancer has been refuted (https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_9910) {Breast cancer, early-onset, susceptibility to}, OMIM:114480;Hereditary breast carcinoma, MONDO:0016419. However, in PMID:31822495 they report very rare BRIP1 missense germline variants (minor allele frequency < 0.0001) in nearly 2% of 2,160 early-onset breast cancer and 1,199 ovarian cancer patients. Functional studies on 20 of these variants revealed 75% resulted in protein hypomorph or null products. The authors also reported that in a clinical cohort of >117,000 breast and ovarian cancer patients, the combined odds ratio associated with BRIP1 hypomorph or null missense carriers compared to the general population was 2.30 (95%CI=1.60-3.30, p<0.0001). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ovarian cancer pertinent cancer susceptibility v1.10 | BRIP1 | Sarah Leigh Phenotypes for gene: BRIP1 were changed from {Breast cancer, early-onset, susceptibility to}, OMIM:114480 to familial ovarian cancer, MONDO:0016248 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ovarian cancer pertinent cancer susceptibility v1.9 | BRIP1 | Arina Puzriakova Phenotypes for gene: BRIP1 were changed from to {Breast cancer, early-onset, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ovarian cancer pertinent cancer susceptibility v1.3 | BRIP1 | Catherine Snow Classified gene: BRIP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ovarian cancer pertinent cancer susceptibility v1.3 | BRIP1 | Catherine Snow Gene: brip1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ovarian cancer pertinent cancer susceptibility v1.2 | BRIP1 |
Catherine Snow gene: BRIP1 was added gene: BRIP1 was added to Ovarian cancer pertinent cancer susceptibility. Sources: Expert list Mode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Review for gene: BRIP1 was set to GREEN Added comment: Rating Green, following review by C Turnball (ICR), of predisposition panels for GMS phase 2 indications. Sources: Expert list |
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