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Familial breast cancer v1.20 BARD1 Dmitrijs Rots edited their review of gene: BARD1: Added comment: PMID: 37592023 metaanlysis also reports significant association with breast cancer; Changed publications to: PMID: 37592023
Familial breast cancer v1.20 BARD1 Dmitrijs Rots reviewed gene: BARD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial breast cancer v1.20 ATRIP Arina Puzriakova Mode of inheritance for gene: ATRIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial breast cancer v1.19 ATRIP Arina Puzriakova Classified gene: ATRIP as Amber List (moderate evidence)
Familial breast cancer v1.19 ATRIP Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Lauma Freimane. More evidence is required prior to adding this gene to the panel. The metanalysis paper identified by reviewer is still at the preprint stage. The findings are detailed below but this needs to be revisited once the article has been published. This is a good candidate gene for breast cancer susceptibility but for now can only classify as Amber (with watchlist tag), awaiting peer-review and additional publication of supporting evidence.
Familial breast cancer v1.19 ATRIP Arina Puzriakova Gene: atrip has been classified as Amber List (Moderate Evidence).
Familial breast cancer v1.18 ATRIP Arina Puzriakova commented on gene: ATRIP
Familial breast cancer v1.18 CDH1 Lauma Freimane reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36436516; Phenotypes: Lobular breast cancer; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial breast cancer v1.18 ATRIP Lauma Freimane gene: ATRIP was added
gene: ATRIP was added to Familial breast cancer. Sources: Literature
Mode of inheritance for gene: ATRIP was set to Unknown
Publications for gene: ATRIP were set to 36977412
Phenotypes for gene: ATRIP were set to Hereditary breast cancer
Review for gene: ATRIP was set to GREEN
gene: ATRIP was marked as current diagnostic
Added comment: Meta-analysis confirms ATRIP role in breast cancer development (https://doi.org/10.1101/2022.06.17.22276537).
Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank.
Sources: Literature
Familial breast cancer v1.18 BRIP1 Arina Puzriakova Phenotypes for gene: BRIP1 were changed from ?Breast cancer, early-onset, 114480; Fanconi anemia, complementation group J, 609054; Breast and Ovarian Cancer; Breast Cancer to {Breast cancer, early-onset, susceptibility to}, OMIM:114480
Familial breast cancer v1.17 BRCA2 Arina Puzriakova Phenotypes for gene: BRCA2 were changed from {Breast-ovarian cancer, familial, 2}, 612555; Fanconi anemia, complementation group D1, 605724; Prostate cancer, 176807; {Breast cancer, male, susceptibility to}, 114480; Wilms tumor, 194070; {Medulloblastoma}, 155255; {Glioblastoma 3},; 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, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480
Familial breast cancer v1.16 BRCA1 Arina Puzriakova Tag watchlist_moi tag was added to gene: BRCA1.
Familial breast cancer v1.16 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
Familial breast cancer v1.15 AR Arina Puzriakova Phenotypes for gene: AR were changed from Androgen insensitivity, 300068; Spinal and bulbar muscular atrophy of Kennedy, 313200; Androgen insensitivity, partial, with or without breast cancer, 312300; {Prostate cancer, susceptibility to}, 176807; Hypospadias 1, X-linked, 300633 to Androgen insensitivity, partial, with or without breast cancer, OMIM:312300
Familial breast cancer v1.14 ATM Arina Puzriakova Phenotypes for gene: ATM were changed from Ataxia-telangiectasia, 208900; Lymphoma, B-cell non-Hodgkin, somatic; {Breast cancer, susceptibility to}, 114480; Lymphoma, mantle cell; T-cell prolymphocytic leukemia, somatic; Breast and Ovarian Cancer to {Breast cancer, susceptibility to}, OMIM:114480
Familial breast cancer RAD51C Treena Cranston reviewed RAD51C
Familial breast cancer RAD51D Treena Cranston reviewed RAD51D
Familial breast cancer CDH1 Ellen McDonagh classified CDH1 as red
Familial breast cancer CHEK2 Ellen McDonagh classified CHEK2 as green
Familial breast cancer ATM Ellen McDonagh edited their review of ATM
Familial breast cancer CDH1 Clare Turnbull reviewed CDH1
Familial breast cancer ATM Ellen McDonagh classified ATM as green
Familial breast cancer ATM Ellen McDonagh commented on ATM
Familial breast cancer CHEK2 Ellen McDonagh classified CHEK2 as amber
Familial breast cancer CHEK2 Ellen McDonagh commented on CHEK2
Familial breast cancer PPM1D Clare Turnbull reviewed PPM1D