Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
53 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.18 | Arina Puzriakova Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.7 | RAD51D | Achchuthan Shanmugasundram Source NHS GMS was added to RAD51D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.7 | RAD51C | Achchuthan Shanmugasundram Source NHS GMS was added to RAD51C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.6 | Eleanor Williams Panel version 2.5 has been signed off on 2023-04-12 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.5 | RAD51D | Eleanor Williams commented on gene: RAD51D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.5 | RAD51D | Eleanor Williams Classified gene: RAD51D as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.5 | RAD51D | Eleanor Williams Gene: rad51d has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.4 | RAD51D |
Eleanor Williams gene: RAD51D was added gene: RAD51D was added to Inherited breast cancer and ovarian cancer. Sources: Expert list Mode of inheritance for gene: RAD51D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD51D were set to {Breast-ovarian cancer, familial, susceptibility to, 4}, OMIM:614291 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.3 | RAD51C | Eleanor Williams commented on gene: RAD51C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.3 | RAD51C | Eleanor Williams Classified gene: RAD51C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.3 | RAD51C | Eleanor Williams Gene: rad51c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.2 | RAD51C |
Eleanor Williams gene: RAD51C was added gene: RAD51C was added to Inherited breast cancer and ovarian cancer. Sources: Expert list Mode of inheritance for gene: RAD51C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RAD51C were set to {Breast-ovarian cancer, familial, susceptibility to, 3}, OMIM:613399 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.1 | Arina Puzriakova Panel version 2.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v2.0 | Arina Puzriakova promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v1.1 |
Catherine Snow Panel types changed to GMS Rare Disease; GMS signed-off Panel version 1.0 has been signed off on 2022-11-30 |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v1.0 | Catherine Snow promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.18 | Eleanor Williams Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.16 | PALB2 | Arina Puzriakova Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480 to {Breast cancer, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.15 | BRCA2 | Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Breast and Ovarian Cancer; Breast cancer; {Breast cancer, male, susceptibility to}, 114480; Hereditary Breast and Ovarian Cancer Syndrome; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer; {Medulloblastoma}, 155255; Prostate cancer, 176807; {Breast-ovarian cancer, familial, 2}, 612555; High Risk Breast Cancer; Fanconi anemia, complementation group D1, 605724; Wilms tumor, 194070 to {Breast-ovarian cancer, familial, 2}, OMIM:612555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.13 | ATM | Arina Puzriakova Publications for gene: ATM were set to {Breast cancer, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.12 | CHEK2 | Arina Puzriakova Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.11 | ATM | Arina Puzriakova Phenotypes for gene: ATM were changed from to {Breast cancer, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.10 | CHEK2 | Arina Puzriakova Phenotypes for gene: CHEK2 were changed from to {Breast cancer, susceptibility to}, OMIM:114480 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.9 | CHEK2 | Arina Puzriakova reviewed gene: CHEK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.9 | ATM | Arina Puzriakova reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.8 | CHEK2 |
Arina Puzriakova gene: CHEK2 was added gene: CHEK2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHEK2 were set to {Breast cancer, susceptibility to}, OMIM:114480 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.8 | ATM |
Arina Puzriakova gene: ATM was added gene: ATM was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATM were set to {Breast cancer, susceptibility to}, OMIM:114480 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.7 | Ellen McDonagh Panel status changed from public to internal | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.5 | Ellen McDonagh Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.4 | Ellen McDonagh List of related panels changed from to R208 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.1 | PALB2 |
Ellen McDonagh gene: PALB2 was added gene: PALB2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; High Risk Breast Cancer; {Pancreatic cancer, susceptibility to, 3}, 613348; Breast and Ovarian Cancer; {Breast cancer, susceptibility to}, 114480 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.1 | BRCA2 |
Ellen McDonagh gene: BRCA2 was added gene: BRCA2 was added to Inherited breast cancer and ovarian cancer. Sources: Expert Review Green Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA2 were set to Breast and Ovarian Cancer; Breast cancer; {Breast cancer, male, susceptibility to}, 114480; Hereditary Breast and Ovarian Cancer Syndrome; {Glioblastoma 3},; Hereditary Breast and Ovarian Cancer; {Medulloblastoma}, 155255; Prostate cancer, 176807; {Breast-ovarian cancer, familial, 2}, 612555; High Risk Breast Cancer; Fanconi anemia, complementation group D1, 605724; Wilms tumor, 194070 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inherited breast cancer and ovarian cancer v0.0 |
Ellen McDonagh Added Panel Inherited breast cancer and ovarian cancer Set panel types to: GMS Rare Disease |
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||