Activity
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12 actions
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| Inherited breast cancer and ovarian cancer v2.17 | BARD1 |
Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: BARD1. Tag Q2_25_ NHS_review was removed from gene: BARD1. |
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| Inherited breast cancer and ovarian cancer v2.17 | BARD1 | Arina Puzriakova edited their review of gene: BARD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval. Additional comments from reviewing GLHs: Propose that BARD1 are treated in the same way as ATM/CHEK2 (truncating variants only etc); Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.16 | BARD1 |
Arina Puzriakova Source Expert Review Green was added to BARD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Inherited breast cancer and ovarian cancer v2.15 | BARD1 | Arina Puzriakova Publications for gene: BARD1 were set to 33471991; 37592023; 15342711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.14 | BARD1 | Arina Puzriakova Classified gene: BARD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.14 | BARD1 | Arina Puzriakova Added comment: Comment on list classification: This gene was reviewed by the cancer expert group and the evidence was determined as sufficient for inclusion on this panel. Therefore, it should be updated to Green at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.14 | BARD1 | Arina Puzriakova Gene: bard1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.13 | BARD1 | Arina Puzriakova commented on gene: BARD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.13 | BARD1 | Arina Puzriakova Publications for gene: BARD1 were set to PMID: 33471991 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.12 | BARD1 | Arina Puzriakova Phenotypes for gene: BARD1 were changed from breast cancer to {Breast cancer, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.11 | BARD1 |
Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: BARD1. Tag Q2_25_ NHS_review tag was added to gene: BARD1. |
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| Inherited breast cancer and ovarian cancer v2.11 | BARD1 |
Terri McVeigh gene: BARD1 was added gene: BARD1 was added to Inherited breast cancer and ovarian cancer. Sources: NHS GMS,Expert Review,Literature Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BARD1 were set to PMID: 33471991 Phenotypes for gene: BARD1 were set to breast cancer Penetrance for gene: BARD1 were set to Incomplete Review for gene: BARD1 was set to GREEN Added comment: Discussed at Cancer/Scientific Leads/UKCGG council meeting re Test Directory updates 2025/2026 (30/01/2025) - consensus was that evidence is sufficient to warrant addition of this gene to R208 panel. Strong evidence indicating that BARD1 is a moderate-risk breast cancer susceptibility gene, with risks associated with pathogenic variants in this gene similar to those associated with variants in other moderate risk genes already included on the panel (PMID: 33471991). We propose reporting should be restricted to truncating variants, and will provide gene-specific reporting guidance to GLHs via UKCGG/CanVIG as we have for other moderate risk genes (https://www.ukcgg.org/information-education/exceptional-variantsgene-specific-variant-reporting/) Sources: NHS GMS, Expert Review, Literature |
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