Polymorphisms in resulting in aberrant codon-usage and their analysis on familial breast cancer risk

Rongxi Yang (1, 2) , Bowang Chen (3) , Kari Hemminki (3, 4) , Barbara Wappenschmidt (5, 6) , Christoph Engel (7) , Christian Sutter (8) , Nina Ditsch (9) , Bernhard H. F. Weber (10) , Dieter Niederacher (11) , Norbert Arnold (12) , Alfons Meindl (13) , Claus R. Bartram (8) , Rita K. Schmutzler (5, 6) , Barbara Burwinkel (1, 2)

1 Molecular Epidemiology Research Group
2 Division Molecular Biology of Breast Cancer, Department of Gynecology and Obstetrics
3 Division of Molecular Genetic Epidemiology
4 Department of Biosciences at Novum
5 Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics
6 CMMC - Center of Molecular Medicine Cologne
7 IMISE - Institute for Medical Informatics, Statistics and Epidemiology [Leipzig]
8 Institute of Human Genetics
9 Department for Obstetrics and Gynaecology
10 Institute of Human Genetics
11 Department of Gynaecology and Obstetrics
12 Division of Oncology, Department of Gynaecology and Obstetrics
13 MRI TUM - Klinikum rechts der Isar

Mutations in and are associated with increased breast cancer risk. While numerous non-synonymous SNPs in have been investigated for breast cancer risk, the impact of synonymous SNPs has not been studied so far. Recently, it has been reported that synonymous SNPs leading to an aberration from the preferred codon-usage can have functional effects and consequently be associated with disease. This motivated us to search for SNPs with the tendency to differential codon-usage in Based on defined criteria, two codon-usage-changing variants, Ser455Ser (1365A > G) and Ser2414Ser (7242A > G), were detected in , whereas no such variant could be identified in . We investigated the impact of these variants on breast cancer risk in a large case–control study. However, both SNPs, Ser2414Ser (7242A > G) and Ser455Ser (1365A > G), showed no association with breast cancer risk. This indicates that these codon-usage-changing SNPs have no major impact on familial breast cancer risk.

Mots clés: Breast cancer risk; Case–control study; Codon-usage

Rongxi Yang, Bowang Chen, Kari Hemminki, Barbara Wappenschmidt, Christoph Engel, et al.. Polymorphisms in resulting in aberrant codon-usage and their analysis on familial breast cancer risk. Breast Cancer Research and Treatment, 2009, 118 (2), pp.407-413. ⟨10.1007/s10549-009-0348-7⟩. ⟨hal-00535343⟩