Carcinogenesis Advance Access originally published online on January 6, 2009
Carcinogenesis 2009 30(3):544-545; doi:10.1093/carcin/bgn289
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© The Author 2009. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
SNPs in ultraconserved elements and familial breast cancer risk
1 IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan 20139, Italy
2 Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology
3 Unit of Medical Statistics and Biometry
4 Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
5 Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan 20141, Italy
6 Cogentech, Consortium for Genomic Technologies, Milan 21039, Italy
7 Department of Experimental Oncology, Istituto Europeo di Oncologia, Milan 20141, Italy
8 Immunohematology and Transfusion Medicine Service, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
9 Direction, Associazione Volontari Italiani Sangue Comunale, Milan 20133, Italy
10 Scientific Direction, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan 20133, Italy
* To whom correspondence should be addressed. Tel: +39 02 2390 3224; Fax: +39 02 2390 2764; Email: paolo.radice@istitutotumori.mi.it
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Dear Sir,
A recent and very interesting study by Yang et al., published in Carcinogenesis, showed that two single-nucleotide polymorphisms (SNPs), the rs2056116 and rs9572903, located within ultraconserved elements, were associated with breast cancer (BC) risk, by comparing 1214 German index patients negative for mutations in BRCA1 and BRCA2 genes and 2084 German female blood donors (1). While rs9573903 showed borderline association with BC risk, the association of rs2056116 was stronger. In particular, the association of rs2056116 was accounted by cases defined as high risk because (i) from families with
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