CHEK2 c.1100delC may not contribute to genetic background of hereditary breast cancer from Shanghai of China.
- Author:
Chuan-gui SONG
1
;
Zhen HU
;
Wen-tao YUAN
;
Gen-hong DI
;
Zhen-zhou SHEN
;
Wei HUANG
;
Zhi-ming SHAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Apoptosis Regulatory Proteins; Asian Continental Ancestry Group; genetics; BRCA1 Protein; genetics; BRCA2 Protein; genetics; Base Sequence; Breast Neoplasms; ethnology; genetics; Checkpoint Kinase 2; China; DNA Mutational Analysis; Female; Frameshift Mutation; Genetic Predisposition to Disease; genetics; Humans; Middle Aged; Mutation, Missense; Protein-Serine-Threonine Kinases; genetics; Sequence Deletion; Young Adult
- From: Chinese Journal of Medical Genetics 2006;23(4):443-445
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the prevalence of CHEK2 c.1100delC mutation among non-BRCA1/BRCA2 familial/early-onset breast cancer patients in Shanghai.
METHODSOne hundred and fourteen non-BRCA1/BRCA2 hereditary breast cancer patients were analyzed, among whom 76 cases had at least one first-degree relative affected with breast cancer and 38 cases were diagnosed as breast cancer below the age of 40 years without family history. The mutation genotyping of CHEK2 c.1100delC were carried out through long-range PCR amplifying of exons 10-14, and followed by amplification of exon 10 and then DNA direct sequencing.
RESULTSNo c.1100delC frame-shift mutation was identified in our studied population. One novel missense mutation 1111C>T (p.His371Tyr), located in kinase catalytic domain, was found in 3 familial breast cancer cases but no one in control group.
CONCLUSIONCHEK2 c.1100delC is rare variant for Chinese population and may not contribute to predisposition for hereditary breast cancer in Shanghai. Novel variant -1111C>T could be in association with genetic susceptibility to breast cancer. A further study is needed to confirm the results.
