Association between ATM polymorphisms and cancer risk: a meta-analysis

Shen, Li; Yin, Zhihua; Wan, Yan; Zhang, Yue; Li, Kun; Zhou, Baosen

doi:10.1007/s11033-011-1381-2

Cited by 32 publications

(18 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, distinguishing between deleterious and neutral ATM alterations is required to allow the definition of standard-of-care clinical guidelines for the management of ATM carriers and their families [11]. Systematic review and meta-analysis of ATM sequencing data have been conducted to evaluate the health risks for parents and siblings of A-T patients, but similar large-scale screenings for ATM carriers in the general population by direct sequencing are not cost-effective yet [13]. …”

Section: Introductionmentioning

confidence: 99%

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer

Prodosmo

Buffone

Mattioni

et al. 2016

J Exp Clin Cancer Res

View full text Add to dashboard Cite

BackgroundVariant ATM heterozygotes have an increased risk of developing cancer, cardiovascular diseases, and diabetes. Costs and time of sequencing and ATM variant complexity make large-scale, general population screenings not cost-effective yet. Recently, we developed a straightforward, rapid, and inexpensive test based on p53 mitotic centrosomal localization (p53-MCL) in peripheral blood mononuclear cells (PBMCs) that diagnoses mutant ATM zygosity and recognizes tumor-associated ATM polymorphisms.MethodsFresh PBMCs from 496 cancer patients were analyzed by p53-MCL: 90 cases with familial BRCA1/2-positive and -negative breast and/or ovarian cancer, 337 with sporadic cancers (ovarian, lung, colon, and post-menopausal breast cancers), and 69 with breast/thyroid cancer. Variants were confirmed by ATM sequencing.ResultsA total of seven individuals with ATM variants were identified, 5/65 (7.7 %) in breast cancer cases of familial breast and/or ovarian cancer and 2/69 (2.9 %) in breast/thyroid cancer. No variant ATM carriers were found among the other cancer cases. Excluding a single case in which both BRCA1 and ATM were mutated, no p53-MCL alterations were observed in BRCA1/2-positive cases.ConclusionsThese data validate p53-MCL as reliable and specific test for germline ATM variants, confirm ATM as breast cancer susceptibility gene, and highlight a possible association with breast/thyroid cancers.Electronic supplementary materialThe online version of this article (doi:10.1186/s13046-016-0410-3) contains supplementary material, which is available to authorized users.

show abstract

Section: Introductionmentioning

confidence: 99%

Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer

Prodosmo

Buffone

Mattioni

et al. 2016

J Exp Clin Cancer Res

View full text Add to dashboard Cite

show abstract

“…Other studies have identified functional variants associated with increased lung cancer or thyroid cancer risk (30,31). Finally, inherited ATM mutations are also felt to play a role in familial pancreatic ductal adenocarcinoma (32)(33)(34).…”

Section: Germ-line Atm Heterozygosity and Cancer Susceptibilitymentioning

confidence: 99%

ATM Mutations in Cancer: Therapeutic Implications

Choi¹,

Kipps²,

Kurzrock³

2016

Molecular Cancer Therapeutics

391

318

View full text Add to dashboard Cite

Activation of checkpoint arrest and homologous DNA repair are necessary for maintenance of genomic integrity during DNA replication. Germ-line mutations of the ataxia telangiectasia mutated (ATM) gene result in the well-characterized ataxia telangiectasia syndrome, which manifests with an increased cancer predisposition, including a 20% to 30% lifetime risk of lymphoid, gastric, breast, central nervous system, skin, and other cancers. Somatic ATM mutations or deletions are commonly found in lymphoid malignancies, as well as a variety of solid tumors. Such mutations may result in chemotherapy resistance and adverse prognosis, but may also be exploited by existing or emerging targeted therapies that produce synthetic lethal states.

show abstract

“…Single-nucleotide polymorphisms (SNPs) of ATM have been associated with cancer susceptibility (Shen et al, 2012). Among them, ATM-111 (G>A), a common functional SNP in the promoter region of the ATM gene, was reported to be a binding site of transcription factors that affect the ATM expression Zhang et al, 2010).…”

Section: Introductionmentioning

confidence: 99%