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Ovarian cancer pertinent cancer susceptibility v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2023-03-22
Ovarian cancer pertinent cancer susceptibility v2.0 Arina Puzriakova promoted panel to version 2.0
Ovarian cancer pertinent cancer susceptibility v1.13 BRCA1 Arina Puzriakova Tag Q2_22_MOI was removed from gene: BRCA1.
Tag Q2_22_expert_review was removed from gene: BRCA1.
Ovarian cancer pertinent cancer susceptibility v1.13 BRCA1 Arina Puzriakova commented on gene: BRCA1: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Ovarian cancer pertinent cancer susceptibility v1.12 BRCA1 Arina Puzriakova Source NHS GMS was added to BRCA1.
Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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 v1.8 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Ovarian cancer to {Breast-ovarian cancer, familial, 2}, OMIM:612555
Ovarian cancer pertinent cancer susceptibility v1.7 BRCA1 Arina Puzriakova Added comment: Comment on mode of inheritance: Although more rare, biallelic germline BRCA1 variants have been shown to also confer breast and ovarian cancer susceptibility (with or without FA‐like features), and multiple such cases have been reported worldwide (PMIDs: 23269703; 25472942; 31347298; 33477375).

This may warrant an MOI change from 'monoallelic' to 'both mono- and biallelic' to ensure these rarer cases are not missed; however this will be flagged for further review to confirm whether the GMS expert group agrees with the change.
Ovarian cancer pertinent cancer susceptibility v1.7 BRCA1 Arina Puzriakova Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ovarian cancer pertinent cancer susceptibility v1.6 BRCA1 Arina Puzriakova Tag Q2_22_MOI tag was added to gene: BRCA1.
Tag Q2_22_expert_review tag was added to gene: BRCA1.
Ovarian cancer pertinent cancer susceptibility v1.6 BRCA1 Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Ovarian cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370
Ovarian cancer pertinent cancer susceptibility v1.4 Catherine Snow Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual; GMS signed-off
Panel version 1.3 has been signed off on 2021-09-29
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
Ovarian cancer pertinent cancer susceptibility v1.1 PMS2 Catherine Snow Classified gene: PMS2 as Red List (low evidence)
Ovarian cancer pertinent cancer susceptibility v1.1 PMS2 Catherine Snow Added comment: Comment on list classification: Rating red, following review by C Turnball (ICR), of predisposition panels for GMS phase 2 indications.
Ovarian cancer pertinent cancer susceptibility v1.1 PMS2 Catherine Snow Gene: pms2 has been classified as Red List (Low Evidence).
Ovarian cancer pertinent cancer susceptibility v1.0 Louise Daugherty promoted panel to version 1.0
Ovarian cancer pertinent cancer susceptibility Ellen McDonagh approved panel
Ovarian cancer pertinent cancer susceptibility RAD51D Ellen McDonagh classified RAD51D as green
Ovarian cancer pertinent cancer susceptibility RAD51D Ellen McDonagh commented on RAD51D
Ovarian cancer pertinent cancer susceptibility RAD51C Ellen McDonagh classified RAD51C as green
Ovarian cancer pertinent cancer susceptibility RAD51C Ellen McDonagh commented on RAD51C
Ovarian cancer pertinent cancer susceptibility PMS2 Ellen McDonagh classified PMS2 as green
Ovarian cancer pertinent cancer susceptibility PMS2 Ellen McDonagh commented on PMS2
Ovarian cancer pertinent cancer susceptibility MSH6 Ellen McDonagh classified MSH6 as green
Ovarian cancer pertinent cancer susceptibility MSH6 Ellen McDonagh commented on MSH6
Ovarian cancer pertinent cancer susceptibility MSH2 Ellen McDonagh classified MSH2 as green
Ovarian cancer pertinent cancer susceptibility MSH2 Ellen McDonagh commented on MSH2
Ovarian cancer pertinent cancer susceptibility MLH1 Ellen McDonagh classified MLH1 as green
Ovarian cancer pertinent cancer susceptibility MLH1 Ellen McDonagh commented on MLH1
Ovarian cancer pertinent cancer susceptibility BRCA2 Ellen McDonagh classified BRCA2 as green
Ovarian cancer pertinent cancer susceptibility BRCA2 Ellen McDonagh commented on BRCA2
Ovarian cancer pertinent cancer susceptibility BRCA1 Ellen McDonagh classified BRCA1 as green
Ovarian cancer pertinent cancer susceptibility BRCA1 Ellen McDonagh commented on BRCA1