<it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland

<p>Abstract</p> <p>Background</p> <p>Individuals heterozygous for germline <it>ATM </it>mutations have been reported to have an increased risk for breast cancer but the role for <it>ATM </it>genetic variants for breast cancer risk has remained un...

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Main Authors: Aittomäki Kristiina, Tamminen Anitta, Kristensen Vessela, Edvardsen Hege, Kilpivaara Outi, Jansen Laila, Tommiska Johanna, Blomqvist Carl, Børresen-Dale Anne-Lise, Nevanlinna Heli
Format: Article
Language:English
Published: BMC 2006-08-01
Series:BMC Cancer
Online Access:http://www.biomedcentral.com/1471-2407/6/209
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spelling doaj-cabf592ed04c49bc928c953fd0084ee22020-11-25T00:13:28ZengBMCBMC Cancer1471-24072006-08-016120910.1186/1471-2407-6-209<it>ATM </it>variants and cancer risk in breast cancer patients from Southern FinlandAittomäki KristiinaTamminen AnittaKristensen VesselaEdvardsen HegeKilpivaara OutiJansen LailaTommiska JohannaBlomqvist CarlBørresen-Dale Anne-LiseNevanlinna Heli<p>Abstract</p> <p>Background</p> <p>Individuals heterozygous for germline <it>ATM </it>mutations have been reported to have an increased risk for breast cancer but the role for <it>ATM </it>genetic variants for breast cancer risk has remained unclear. Recently, a common <it>ATM </it>variant, <it>ATMivs38 </it>-8T>C in cis with the <it>ATMex39 </it>5557G>A (D1853N) variant, was suggested to associate with bilateral breast cancer among familial breast cancer patients from Northern Finland. We have here evaluated the 5557G>A and ivs38-8T>C variants in an extensive case-control association analysis. We also aimed to investigate whether there are other <it>ATM </it>mutations or variants contributing to breast cancer risk in our population.</p> <p>Methods</p> <p>Two common <it>ATM </it>variants, 5557G>A and ivs38-8T>C, previously suggested to associate with bilateral breast cancer, were genotyped in an extensive set of 786 familial and 884 unselected breast cancer cases as well as 708 healthy controls. We also screened the entire coding region and exon-intron boundaries of the <it>ATM </it>gene in 47 familial breast cancer patients and constructed haplotypes of the patients. The identified variants were also evaluated for increased breast cancer risk among additional breast cancer cases and controls.</p> <p>Results</p> <p>Neither of the two common variants, 5557G>A and ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk, bilateral breast cancer or multiple primary cancers in any of the patient groups or subgoups. Three rare missense alterations and one intronic change were each found in only one patient of over 250 familial patients studied and not among controls. The fourth missense alteration studied further was found with closely similar frequencies in over 600 familial cases and controls.</p> <p>Conclusion</p> <p>Altogether, our results suggest very minor effect, if any, of <it>ATM </it>genetic variants on familial breast cancer in Southern Finland. Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer.</p> http://www.biomedcentral.com/1471-2407/6/209
collection DOAJ
language English
format Article
sources DOAJ
author Aittomäki Kristiina
Tamminen Anitta
Kristensen Vessela
Edvardsen Hege
Kilpivaara Outi
Jansen Laila
Tommiska Johanna
Blomqvist Carl
Børresen-Dale Anne-Lise
Nevanlinna Heli
spellingShingle Aittomäki Kristiina
Tamminen Anitta
Kristensen Vessela
Edvardsen Hege
Kilpivaara Outi
Jansen Laila
Tommiska Johanna
Blomqvist Carl
Børresen-Dale Anne-Lise
Nevanlinna Heli
<it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland
BMC Cancer
author_facet Aittomäki Kristiina
Tamminen Anitta
Kristensen Vessela
Edvardsen Hege
Kilpivaara Outi
Jansen Laila
Tommiska Johanna
Blomqvist Carl
Børresen-Dale Anne-Lise
Nevanlinna Heli
author_sort Aittomäki Kristiina
title <it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland
title_short <it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland
title_full <it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland
title_fullStr <it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland
title_full_unstemmed <it>ATM </it>variants and cancer risk in breast cancer patients from Southern Finland
title_sort <it>atm </it>variants and cancer risk in breast cancer patients from southern finland
publisher BMC
series BMC Cancer
issn 1471-2407
publishDate 2006-08-01
description <p>Abstract</p> <p>Background</p> <p>Individuals heterozygous for germline <it>ATM </it>mutations have been reported to have an increased risk for breast cancer but the role for <it>ATM </it>genetic variants for breast cancer risk has remained unclear. Recently, a common <it>ATM </it>variant, <it>ATMivs38 </it>-8T>C in cis with the <it>ATMex39 </it>5557G>A (D1853N) variant, was suggested to associate with bilateral breast cancer among familial breast cancer patients from Northern Finland. We have here evaluated the 5557G>A and ivs38-8T>C variants in an extensive case-control association analysis. We also aimed to investigate whether there are other <it>ATM </it>mutations or variants contributing to breast cancer risk in our population.</p> <p>Methods</p> <p>Two common <it>ATM </it>variants, 5557G>A and ivs38-8T>C, previously suggested to associate with bilateral breast cancer, were genotyped in an extensive set of 786 familial and 884 unselected breast cancer cases as well as 708 healthy controls. We also screened the entire coding region and exon-intron boundaries of the <it>ATM </it>gene in 47 familial breast cancer patients and constructed haplotypes of the patients. The identified variants were also evaluated for increased breast cancer risk among additional breast cancer cases and controls.</p> <p>Results</p> <p>Neither of the two common variants, 5557G>A and ivs38-8T>C, nor any haplotype containing them, was significantly associated with breast cancer risk, bilateral breast cancer or multiple primary cancers in any of the patient groups or subgoups. Three rare missense alterations and one intronic change were each found in only one patient of over 250 familial patients studied and not among controls. The fourth missense alteration studied further was found with closely similar frequencies in over 600 familial cases and controls.</p> <p>Conclusion</p> <p>Altogether, our results suggest very minor effect, if any, of <it>ATM </it>genetic variants on familial breast cancer in Southern Finland. Our results do not support association of the 5557G>A or ivs38-8T>C variant with increased breast cancer risk or with bilateral breast cancer.</p>
url http://www.biomedcentral.com/1471-2407/6/209
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