Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?
| Autoři: | Szabo CI; International Agency for Research on Cancer, Lyon, France., Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van 't Veer LJ, Goldgar DE, Meijers-Heijboer H |
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| Zdroj: | Cancer research [Cancer Res] 2004 Feb 01; Vol. 64 (3), pp. 840-3. |
| Způsob vydávání: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
| Jazyk: | English |
| Informace o časopise: | Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print Cited Medium: Print ISSN: 0008-5472 (Print) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE |
| Imprint Name(s): | Publication: Baltimore, Md. : American Association for Cancer Research Original Publication: Chicago [etc.] |
| Výrazy ze slovníku MeSH: | Alleles* , Point Mutation*, Breast Neoplasms/*genetics , Protein Serine-Threonine Kinases/*genetics, Ataxia Telangiectasia Mutated Proteins ; Cell Cycle Proteins ; DNA-Binding Proteins ; Female ; Genetic Predisposition to Disease ; Humans ; Middle Aged ; Pedigree ; Tumor Suppressor Proteins |
| Abstrakt: | Two mutations of the ATM gene were recently suggested to confer breast cancer risks similar to mutations of BRCA1 or BRCA2. Here, we set out to confirm these findings in 961 families with non-BRCA1/BRCA2 breast cancer from diverse geographical regions. We did not detect the ATM 7271T-->G mutation in any family. The ATM IVS10-6T-->G mutation was detected in eight families, which was similar to its frequency among population-matched control individuals (pooled Mantel-Haenszel odds ratio = 1.60; 95% confidence interval = 0.48 to 5.35; P = 0.44). Bayesian analysis of linkage in the ATM IVS10-6T-->G-positive families showed an overall posterior probability of causality for this mutation of 0.008. We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer. |
| Grant Information: | CA69398 United States CA NCI NIH HHS; CA69417 United States CA NCI NIH HHS; CA69446 United States CA NCI NIH HHS; CA69467 United States CA NCI NIH HHS; CA69631 United States CA NCI NIH HHS; CA69638 United States CA NCI NIH HHS |
| Substance Nomenclature: | 0 (Cell Cycle Proteins) 0 (DNA-Binding Proteins) 0 (Tumor Suppressor Proteins) EC 2.7.11.1 (ATM protein, human) EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins) EC 2.7.11.1 (Protein Serine-Threonine Kinases) |
| Entry Date(s): | Date Created: 20040212 Date Completed: 20040409 Latest Revision: 20211203 |
| Update Code: | 20221213 |
| DOI: | 10.1158/0008-5472.can-03-2678 |
| PMID: | 14871810 |
| Autor: | Szabo CI; International Agency for Research on Cancer, Lyon, France., Schutte M, Broeks A, Houwing-Duistermaat JJ, Thorstenson YR, Durocher F, Oldenburg RA, Wasielewski M, Odefrey F, Thompson D, Floore AN, Kraan J, Klijn JG, van den Ouweland AM, Wagner TM, Devilee P, Simard J, van 't Veer LJ, Goldgar DE, Meijers-Heijboer H |
| Jazyk: | angličtina |
| Zdroj: | Cancer research [Cancer Res] 2004 Feb 01; Vol. 64 (3), pp. 840-3. |
| DOI: | 10.1158/0008-5472.can-03-2678 |
| Abstrakt: | Two mutations of the ATM gene were recently suggested to confer breast cancer risks similar to mutations of BRCA1 or BRCA2. Here, we set out to confirm these findings in 961 families with non-BRCA1/BRCA2 breast cancer from diverse geographical regions. We did not detect the ATM 7271T-->G mutation in any family. The ATM IVS10-6T-->G mutation was detected in eight families, which was similar to its frequency among population-matched control individuals (pooled Mantel-Haenszel odds ratio = 1.60; 95% confidence interval = 0.48 to 5.35; P = 0.44). Bayesian analysis of linkage in the ATM IVS10-6T-->G-positive families showed an overall posterior probability of causality for this mutation of 0.008. We conclude that the ATM IVS10-6T-->G mutation does not confer a significantly elevated breast cancer risk and that ATM 7271T-->G is a rare event in familial breast cancer. |
| Databáze: | MEDLINE |
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