ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2010
Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.BMC cancer · 2021Pooled it
- Breast Cancer Susceptibility Gene Sequence Variations and Development of Contralateral Breast Cancer.JAMA network open · 2024Article
- The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence.International journal of molecular sciences · 2024Article
- A pleiotropic ATM variant (rs1800057 C>G) is associated with risk of multiple cancers.Carcinogenesis · 2022Article
- FromBreast care (Basel, Switzerland) · 2021Article
- Review
- Clustering of known low and moderate risk alleles rather than a novel recessive high-risk gene in non-BRCA1/2 sib trios affected with breast cancer.International journal of cancer · 2020Article
- Personalized early detection and prevention of breast cancer: ENVISION consensus statement.Nature reviews. Clinical oncology · 2020Review
- Clinical interpretation of pathogenic ATM and CHEK2 variants on multigene panel tests: navigating moderate risk.Familial cancer · 2018Article
- ATM in breast and brain tumors: a comprehensive review.Cancer biology & medicine · 2018Article
- Breast Cancer Family History and Contralateral Breast Cancer Risk in Young Women: An Update From the Women's Environmental Cancer and Radiation Epidemiology Study.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2018Article
- Article
- Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.Blood · 2016Article
- ATM gene mutations in sporadic breast cancer patients from Brazil.SpringerPlus · 2015Article
- Multifunctional role of ATM/Tel1 kinase in genome stability: from the DNA damage response to telomere maintenance.BioMed research international · 2014Review
- Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.DNA repair · 2014Article
- Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.Human molecular genetics · 2013Article
- Article
- Novel insights into breast cancer genetic variance through RNA sequencing.Scientific reports · 2013Article
- Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: a Cancer and Leukemia Group B study.Leukemia & lymphoma · 2012Article
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Authors and funding
93 authors at 1 institution in 3 countries.
Funding
Abstract
backgroundTruncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious.
methodsWe have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucleotide polymorphisms (SNP) in ATM (S49C, S707P, F858L, P1054R, and L1420F) in 26,101 breast cancer cases and 29,842 controls from 23 studies in the Breast Cancer Association Consortium.
resultsCombining the data from all five SNPs, the odds ratio (OR) was 1.05 for being a heterozygote for any of the SNPs and 1.51 for being a rare homozygote for any of the SNPs with an overall trend OR of 1.06 (P(trend) = 0.04). The trend OR among bilateral and familial cases was 1.12 (95% confidence interval, 1.02-1.23; P(trend) = 0.02).
conclusionsIn this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer. IMPACT: Testing the combined effects of rare missense variants in known breast cancer genes in large collaborative studies should clarify their overall contribution to breast cancer susceptibility.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.