Incidentalome
Gene: CHEK2
PMID: 36529819- new biallelic adult cancer predisposition association. 2 families with 14 affected members however 4 affected members are only heterozygous for the familial variant/s and others not sequenced. Of those sequenced only 4 were chet or hom for CHEK2 variants. Cancers are adult onset with cancers ranging from breast, thyroid, colon. Meningioma, neuroblastoma, prostate and AML. This paper also reviews previous biallelic reports, 6 other families/individuals with homozygous CHEK2 variants and a range of cancers.Created: 5 Jan 2023, 3:52 a.m. | Last Modified: 5 Jan 2023, 3:52 a.m.
Panel Version: 0.219
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807)
Publications
Comment when marking as ready: Decision to add to Incidentalome by Genomics MDT 6/12/19.Created: 6 Dec 2019, 1:04 a.m. | Last Modified: 6 Dec 2019, 1:04 a.m.
Panel Version: 0.2
Sources: OtherCreated: 6 Dec 2019, 1:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Breast cancer
Tag cancer tag was added to gene: CHEK2.
Phenotypes for gene: CHEK2 were changed from Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807) to Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807)
Phenotypes for gene: CHEK2 were changed from Breast cancer to Li-Fraumeni syndrome 2 (MIM#609265); {Breast cancer, susceptibility to} (MIM#114480); {Colorectal cancer, susceptibility to} (MIM#114500); {Prostate cancer, familial, susceptibility to} (MIM#176807)
Publications for gene: CHEK2 were set to
Mode of inheritance for gene: CHEK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: CHEK2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: CHEK2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: chek2 has been classified as Green List (High Evidence).
Gene: chek2 has been classified as Green List (High Evidence).
gene: CHEK2 was added gene: CHEK2 was added to Incidentalome_VCGS. Sources: Other Mode of inheritance for gene: CHEK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHEK2 were set to Breast cancer Review for gene: CHEK2 was set to GREEN