Details of CHEK2 gene in Homo sapiens

IDs
Link outs	Gene Name	Alias	Uniprot ID	SwissProt ID	NCBI gene ID	ENSEMBL ID	Description	Source
	CHEK2	CDS1	CHK2	RAD53	O96017	A8K3Y9	B7ZBF3	Q6QA04

Disease
Disease	OMIM id
Li-Fraumeni syndrome 2 (LFS2) [MIM:609265]: A highly penetrant familial cancer syndrome that in its classic form is defined by the existence of a proband affected by a sarcoma before 45 years with a first degree relative affected by any tumor before 45 years and another first degree relative with any tumor before 45 years or a sarcoma at any age. Other clinical definitions for LFS have been proposed (PubMed:8118819 and PubMed:8718514) and called Li-Fraumeni like syndrome (LFL). In these families affected relatives develop a diverse set of malignancies at unusually early ages. Four types of cancers account for 80% of tumors occurring in TP53 germline mutation carriers: breast cancers	brain tumors (astrocytomas) and adrenocortical carcinomas. Less frequent tumors include choroid plexus carcinoma or papilloma before the age of 15
Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma	prostatic ductal carcinoma
Osteogenic sarcoma (OSRC) [MIM:259500]: A sarcoma originating in bone-forming cells	604373
Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry (PubMed:12094328).	114480

Phenotypes

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Orthologs in other species
M. musculus	D. melonogaster	C. elegans	S. purpuratus