CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women
โ Scribed by Dank, Muriel A. (author);Jonker, Marianne A. (author);Kluijt, Irma (author);van Mil, Saskia E. (author);Oldenburg, Rogier A. (author);Mooi, Wolter J. (author);Hogervorst, Frans B.L. (author);van den Ouweland, Ans M.W. (author);Gille, Johan J.P. (author);Schmidt, Marjanka K. (author);van der Vaart, Aad W. (author);Meijers-Heijboer, Hanne (author);Waisfisz, Quinten (author)
- Book ID
- 126877380
- Publisher
- BMJ Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 295 KB
- Volume
- 48
- Category
- Article
- ISSN
- 0022-2593
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## Abstract Genetic risk factors for male breast cancer (MBC) are poorly understood. High penetrance genes such as BRCA1 or BRCA2 account for only a small proportion of the disease. A 1100delC mutation in CHEK2 (previously known as CHK2), a cellโcycle checkpoint kinase, has been implicated in predi
The association between the CHEK2 and breast cancer risk in Chinese women is unknown. Here, we screened the full CHEK2 coding sequence in 118 Chinese familial breast cancer cases who are negative for mutations in BRCA1 and BRCA2, one recurrent mutation, CHEK2 c.1111C4T (p.H371Y), was identified in f