Activity
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| Adult solid tumours for rare disease v1.29 | BRCA1 | Arina Puzriakova Added comment: Comment on mode of inheritance: Updated MOI from 'monoallelic' to 'both mono- and biallelic' to align with the MOI set on the GMS Adult solid tumours cancer susceptibility (v2.2) panel. 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours for rare disease v1.29 | BRCA1 | Arina Puzriakova Mode of inheritance for gene: BRCA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours for rare disease v1.28 | BRCA1 | Arina Puzriakova Phenotypes for gene: BRCA1 were changed from Hereditary Breast and Ovarian Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult solid tumours for rare disease | BRCA1 | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||