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| Inherited breast cancer and ovarian cancer v1.3 | BRCA1 |
Arina Puzriakova Tag Q2_22_MOI was removed from gene: BRCA1. Tag Q2_22_expert_review was removed from gene: BRCA1. |
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| Inherited breast cancer and ovarian cancer v1.3 | 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 |
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| Inherited breast cancer and ovarian cancer v1.2 | 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 breast cancer and ovarian cancer v0.17 | 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. |
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| Inherited breast cancer and ovarian cancer v0.17 | 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 breast cancer and ovarian cancer v0.16 | BRCA1 |
Arina Puzriakova Tag Q2_22_MOI tag was added to gene: BRCA1. Tag Q2_22_expert_review tag was added to gene: BRCA1. |
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| Inherited breast cancer and ovarian cancer v0.14 | BRCA1 | Arina Puzriakova Phenotypes for gene: BRCA1 were changed from {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer to {Breast-ovarian cancer, familial, 1}, OMIM:604370 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.1 | BRCA1 |
Ellen McDonagh gene: BRCA1 was added gene: BRCA1 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA1 were set to {Breast-ovarian cancer, familial, 1}, 604370; Breast and Ovarian Cancer; {Pancreatic cancer, susceptibility to, 4}, 614320; Breast cancer; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Breast and Ovarian Cancer; High Risk Breast Cancer |
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