Association of common ATM variants with familial breast cancer in a South American population.

BMC Cancer
Patricio González-HormazábalLilian Jara

Abstract

The ATM gene has been frequently involved in hereditary breast cancer as a low-penetrance susceptibility gene but evidence regarding the role of ATM as a breast cancer susceptibility gene has been contradictory. In this study, a full mutation analysis of the ATM gene was carried out in patients from 137 Chilean breast cancer families, of which 126 were BRCA1/2 negatives and 11 BRCA1/2 positives. We further perform a case-control study between the subgroup of 126 cases BRCA1/2 negatives and 200 controls for the 5557G>A missense variant and the IVS38-8T>C and the IVS24-9delT polymorphisms. In the full mutation analysis we detected two missense variants and eight intronic polymorphisms. Carriers of the variant IVS24-9delT, or IVS38-8T>C, or 5557G>A showed an increase in breast cancer risk. The higher significance was observed in the carriers of IVS38-8T>C (OR = 3.09 [95%CI 1.11-8.59], p = 0.024). The IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A composite genotype confered a 3.19 fold increase in breast cancer risk (OR = 3.19 [95%CI 1.16-8.89], p = 0.021). The haplotype estimation suggested a strong linkage disequilibrium between the three markers (D' = 1). We detected only three haplotypes in the cases and control samples, some of these ...Continue Reading

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Citations

Feb 18, 2011·Breast Cancer Research and Treatment·Bo JinZhishan Ding
Jan 24, 2009·Nature Reviews. Cancer·Catherine WhibleyMonica Hollstein
Aug 31, 2010·Journal of Experimental & Clinical Cancer Research : CR·Lin-Bo GaoLin Zhang
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Nov 15, 2017·Genetic Testing and Molecular Biomarkers·Lidiane P AgostiniIúri Drumond Louro
Feb 20, 2019·Genes·Valentina A ZavalaLaura Fejerman
May 24, 2011·Molecular Biology Reports·Chen MaoJin-Ling Tang
Jul 18, 2020·The Journal of International Medical Research·Yueting LiDaqing Jiang
Nov 15, 2016·Cancer Control : Journal of the Moffitt Cancer Center·Filipa LynceSusan T Vadaparampil
Jan 19, 2012·Acta Medica (Hradec Králové)·Martin BeránekJirí Petera

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Methods Mentioned

BETA
electrophoresis
genotyping

Software Mentioned

UNPHASED
PRIMER3
CSGE

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