Inherited ovarian cancer (without breast cancer)
Gene: BRIP1Comment 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).Created: 12 Apr 2022, 7:31 a.m. | Last Modified: 9 Jun 2022, 9:58 a.m.
Panel Version: 2.28
Comment on phenotypes: This gene is also associated with Fanconi anemia, complementation group J (MIM# 609054)Created: 3 Mar 2021, 11:58 a.m. | Last Modified: 3 Mar 2021, 11:58 a.m.
Panel Version: 2.9
As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:23 p.m. | Last Modified: 31 Jul 2019, 12:23 p.m.
Panel Version: 1.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Lifetime ovarian cancer risks are reported in the 4.3-5.8% rangeCreated: 29 Aug 2017, 1:07 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: BRIP1 were set to 26315354; 21964575; 29661970
Phenotypes for gene: BRIP1 were changed from ovarian epithelial tumor, MONDO:0002229 to familial ovarian cancer, MONDO:0016248
Phenotypes for gene: BRIP1 were changed from {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419 to ovarian epithelial tumor, MONDO:0002229
Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480; Hereditary breast carcinoma, MONDO:0016419
Publications for gene: BRIP1 were set to
Source Expert List was added to BRIP1. Source NHS GMS was added to BRIP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
31/07/2017: Promoted panel to version 1, after checking against the original list sent by Clare Turnbull for this panel.
This gene has been classified as Green List (High Evidence).
BRIP1 was created by ellenmcdonagh
BRIP1 was added to Familial ovarian cancerpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Expert Review Green