ATM variants and cancer risk in breast cancer patients from Southern Finland
Abstract Background Individuals heterozygous for germline ATM mutations have been reported to have an increased risk for breast cancer but the role for ATM genetic variants for breast cancer risk has remained unclear. Recently, a common ATM variant, ATMivs38 -8T>C in cis with the ATMex39 5557G>...
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ftdoajarticles:oai:doaj.org/article:cabf592ed04c49bc928c953fd0084ee2 2023-05-15T17:42:51+02:00 ATM variants and cancer risk in breast cancer patients from Southern Finland Aittomäki Kristiina Tamminen Anitta Kristensen Vessela Edvardsen Hege Kilpivaara Outi Jansen Laila Tommiska Johanna Blomqvist Carl Børresen-Dale Anne-Lise Nevanlinna Heli 2006-08-01T00:00:00Z https://doi.org/10.1186/1471-2407-6-209 https://doaj.org/article/cabf592ed04c49bc928c953fd0084ee2 EN eng BMC http://www.biomedcentral.com/1471-2407/6/209 https://doaj.org/toc/1471-2407 doi:10.1186/1471-2407-6-209 1471-2407 https://doaj.org/article/cabf592ed04c49bc928c953fd0084ee2 BMC Cancer, Vol 6, Iss 1, p 209 (2006) Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 article 2006 ftdoajarticles https://doi.org/10.1186/1471-2407-6-209 2022-12-31T09:08:43Z Abstract Background Individuals heterozygous for germline ATM mutations have been reported to have an increased risk for breast cancer but the role for ATM genetic variants for breast cancer risk has remained unclear. Recently, a common ATM variant, ATMivs38 -8T>C in cis with the ATMex39 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 ATM mutations or variants contributing to breast cancer risk in our population. Methods Two common ATM 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 ATM 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. Results 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. Conclusion Altogether, our results suggest very minor effect, if any, of ATM 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 ... Article in Journal/Newspaper Northern Finland Directory of Open Access Journals: DOAJ Articles BMC Cancer 6 1 |
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Directory of Open Access Journals: DOAJ Articles |
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ftdoajarticles |
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English |
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Aittomäki Kristiina Tamminen Anitta Kristensen Vessela Edvardsen Hege Kilpivaara Outi Jansen Laila Tommiska Johanna Blomqvist Carl Børresen-Dale Anne-Lise Nevanlinna Heli ATM variants and cancer risk in breast cancer patients from Southern Finland |
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Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 |
description |
Abstract Background Individuals heterozygous for germline ATM mutations have been reported to have an increased risk for breast cancer but the role for ATM genetic variants for breast cancer risk has remained unclear. Recently, a common ATM variant, ATMivs38 -8T>C in cis with the ATMex39 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 ATM mutations or variants contributing to breast cancer risk in our population. Methods Two common ATM 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 ATM 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. Results 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. Conclusion Altogether, our results suggest very minor effect, if any, of ATM 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 ... |
format |
Article in Journal/Newspaper |
author |
Aittomäki Kristiina Tamminen Anitta Kristensen Vessela Edvardsen Hege Kilpivaara Outi Jansen Laila Tommiska Johanna Blomqvist Carl Børresen-Dale Anne-Lise Nevanlinna Heli |
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 |
ATM variants and cancer risk in breast cancer patients from Southern Finland |
title_short |
ATM variants and cancer risk in breast cancer patients from Southern Finland |
title_full |
ATM variants and cancer risk in breast cancer patients from Southern Finland |
title_fullStr |
ATM variants and cancer risk in breast cancer patients from Southern Finland |
title_full_unstemmed |
ATM variants and cancer risk in breast cancer patients from Southern Finland |
title_sort |
atm variants and cancer risk in breast cancer patients from southern finland |
publisher |
BMC |
publishDate |
2006 |
url |
https://doi.org/10.1186/1471-2407-6-209 https://doaj.org/article/cabf592ed04c49bc928c953fd0084ee2 |
genre |
Northern Finland |
genre_facet |
Northern Finland |
op_source |
BMC Cancer, Vol 6, Iss 1, p 209 (2006) |
op_relation |
http://www.biomedcentral.com/1471-2407/6/209 https://doaj.org/toc/1471-2407 doi:10.1186/1471-2407-6-209 1471-2407 https://doaj.org/article/cabf592ed04c49bc928c953fd0084ee2 |
op_doi |
https://doi.org/10.1186/1471-2407-6-209 |
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BMC Cancer |
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6 |
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1 |
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1766144778144055296 |