Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v3.3 | BRCA1 |
Arina Puzriakova Tag Q2_22_MOI was removed from gene: BRCA1. Tag Q2_22_expert_review was removed from gene: BRCA1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v3.3 | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v3.2 | BRCA1 | Arina Puzriakova Mode of inheritance for gene BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.25 | BRCA1 |
Arina Puzriakova Tag Q2_22_MOI tag was added to gene: BRCA1. Tag Q2_22_expert_review tag was added to gene: BRCA1. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.25 | BRCA1 |
Arina Puzriakova Added comment: Comment on mode of inheritance: Although more rare, biallelic 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). There are at least two unrelated individuals in literature who were diagnosed with ovarian carcinoma in association with biallelic germline BRCA1 variants. 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.25 | 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.6 | BRCA1 | Arina Puzriakova Added comment: Comment on phenotypes: This gene is also associated with 'Pancreatic cancer, susceptibility to, 4' (MIM# 614320) and 'Fanconi anemia, complementation group S' (MIM# 617883) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v2.6 | BRCA1 | Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; {Pancreatic cancer, susceptibility to, 4}, 614320; Hereditary Breast and Ovarian Cancer ; Hereditary Breast and Ovarian Cancer Syndrome; Breast and Ovarian Cancer; High Risk Breast Cancer ; Breast cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Hereditary breast ovarian cancer syndrome, MONDO:0003582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.9 | BRCA1 | Ivone Leong commented on gene: BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.6 | BRCA1 | Ivone Leong Publications for gene: BRCA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.5 | BRCA1 | Rachel Robinson reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29661970; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.5 | BRCA1 | Lara Hawkes reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) v1.4 | BRCA1 |
Ivone Leong Source Expert List was added to BRCA1. Source NHS GMS was added to BRCA1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) | BRCA1 | Treena Cranston reviewed BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) | BRCA1 | Ellen McDonagh classified BRCA1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) | BRCA1 | Ellen McDonagh classified BRCA1 as green | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) | BRCA1 | Ellen McDonagh commented on BRCA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited ovarian cancer (without breast cancer) | BRCA1 | Ellen McDonagh classified BRCA1 as red | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||