Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?
| Autoři: | Szabo, CI, Schutte, Mieke, Broeks, A, Houwing-Duistermaat, JJ, Thorstenson, YR, Durocher, F, Oldenburg, Rogier, Wasielewski, M (Marijke), Odefrey, F, Thompson, D, Floore, AN, Kraan, J, Klijn, Jan, van den Ouweland, Ans, BRCA-X cons.coop.fam.reg.,, Int.disc.Health Res.int.breast,, Wagner, TMU, Devilee, P, Simard, J, van 't Veer, LJ (Laura), Goldgar, DE, Meijers-Heijboer, EJ |
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| Přispěvatelé: | Medical Oncology, Epidemiology, Clinical Genetics, Human Genetics |
| Zdroj: | Cancer Research, 64, 840-843. American Association for Cancer Research Inc. Cancer research, 64(3), 840-843. American Association for Cancer Research Inc. |
| Informace o vydavateli: | American Association for Cancer Research Inc., 2004. |
| Rok vydání: | 2004 |
| Témata: | Cancer Research, Mammary gland, Breast Neoplasms, Cell Cycle Proteins, Ataxia Telangiectasia Mutated Proteins, Protein Serine-Threonine Kinases, Biology, Breast cancer, SDG 3 - Good Health and Well-being, medicine, Humans, Point Mutation, Genetic Predisposition to Disease, Allele, Risk factor, skin and connective tissue diseases, Alleles, Genetics, Tumor Suppressor Proteins, Point mutation, Odds ratio, Middle Aged, medicine.disease, Confidence interval, Pedigree, DNA-Binding Proteins, medicine.anatomical_structure, Oncology, Mutation (genetic algorithm), Female |
| Popis: | 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. |
| ISSN: | 1538-7445 0008-5472 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81541d2813eec29bf9ba65bb4a2287e7 https://doi.org/10.1158/0008-5472.CAN-03-2678 |
| Rights: | RESTRICTED |
| Přírůstkové číslo: | edsair.doi.dedup.....81541d2813eec29bf9ba65bb4a2287e7 |
| Autor: | Szabo, CI, Schutte, Mieke, Broeks, A, Houwing-Duistermaat, JJ, Thorstenson, YR, Durocher, F, Oldenburg, Rogier, Wasielewski, M (Marijke), Odefrey, F, Thompson, D, Floore, AN, Kraan, J, Klijn, Jan, van den Ouweland, Ans, BRCA-X cons.coop.fam.reg.,, Int.disc.Health Res.int.breast,, Wagner, TMU, Devilee, P, Simard, J, van 't Veer, LJ (Laura), Goldgar, DE, Meijers-Heijboer, EJ |
| Přispěvatelé: | Medical Oncology, Epidemiology, Clinical Genetics, Human Genetics |
| Rok vydání: | 2004 |
| Předmět: |
Cancer Research
Mammary gland Breast Neoplasms Cell Cycle Proteins Ataxia Telangiectasia Mutated Proteins Protein Serine-Threonine Kinases Biology Breast cancer SDG 3 - Good Health and Well-being medicine Humans Point Mutation Genetic Predisposition to Disease Allele Risk factor skin and connective tissue diseases Alleles Genetics Tumor Suppressor Proteins Point mutation Odds ratio Middle Aged medicine.disease Confidence interval Pedigree DNA-Binding Proteins medicine.anatomical_structure Oncology Mutation (genetic algorithm) Female |
| Zdroj: | Cancer Research, 64, 840-843. American Association for Cancer Research Inc. Cancer research, 64(3), 840-843. American Association for Cancer Research Inc. |
| ISSN: | 1538-7445 0008-5472 |
| Popis: | 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: | OpenAIRE |
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