Skip to main content
Top
Published in: Familial Cancer 3/2017

01-07-2017 | Short Communication

ATM mutations for surgeons

Authors: Sara A. Mansfield, Robert Pilarski, Doreen M. Agnese

Published in: Familial Cancer | Issue 3/2017

Login to get access

Abstract

The ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase involved in DNA repair. Heterozygotic carriers are at an increased risk of developing breast cancer. As the use of genetic testing increases, identification of at-risk patients will also increase. The aim of this study is to review two cases of heterozygous ATM mutation carriers and review the literature to clarify the cancer risks and suggested management for breast surgeons who will be intimately involved in the care of these patients.
Literature
1.
go back to reference Shiloh Y, Ziv Y (2013) The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 14:197–210CrossRef Shiloh Y, Ziv Y (2013) The ATM protein kinase: regulating the cellular response to genotoxic stress, and more. Nat Rev Mol Cell Biol 14:197–210CrossRef
3.
go back to reference Swift M, Sholman L, Perry M, Chase C (1976) Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res 36:209–215PubMed Swift M, Sholman L, Perry M, Chase C (1976) Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res 36:209–215PubMed
4.
go back to reference Marabelli M, Cheng S, Parmigiani G (2016) Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk. Genet Epidemiol 40(5):425–431CrossRefPubMed Marabelli M, Cheng S, Parmigiani G (2016) Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk. Genet Epidemiol 40(5):425–431CrossRefPubMed
5.
go back to reference Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN (2014) Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw 12(9):1339–1346CrossRefPubMed Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN (2014) Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw 12(9):1339–1346CrossRefPubMed
6.
go back to reference Turnbull C, Rahman N (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genom Hum Genet 9:321–345CrossRef Turnbull C, Rahman N (2008) Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genom Hum Genet 9:321–345CrossRef
8.
go back to reference Ahmed M, Rahman N (2006) ATM and breast cancer susceptibility. Hum Mutat 27:1122–1128CrossRef Ahmed M, Rahman N (2006) ATM and breast cancer susceptibility. Hum Mutat 27:1122–1128CrossRef
9.
go back to reference Renwick A, Thompson D, Seal S et al; Breast Cancer Susceptibility Collaboration (UK) (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38:873–875CrossRefPubMed Renwick A, Thompson D, Seal S et al; Breast Cancer Susceptibility Collaboration (UK) (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38:873–875CrossRefPubMed
10.
go back to reference Bernstein JL, Teraoka S, Southey MC et al (2006) Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the Breast Cancer Family Registry. Hum Mutat 27:1122–1128CrossRefPubMed Bernstein JL, Teraoka S, Southey MC et al (2006) Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the Breast Cancer Family Registry. Hum Mutat 27:1122–1128CrossRefPubMed
11.
go back to reference Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 85(4):427–446CrossRefPubMedPubMedCentral Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallée MP, Voegele C, Webb PM, Whiteman DC; Australian Cancer Study; Breast Cancer Family Registries (BCFR); Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer (kConFab), Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009) Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet 85(4):427–446CrossRefPubMedPubMedCentral
12.
go back to reference Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P (2006) Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the Breast Cancer Family Registry. Hum Mutat 27(11):1122–1128CrossRefPubMed Bernstein JL, Teraoka S, Southey MC, Jenkins MA, Andrulis IL, Knight JA, John EM, Lapinski R, Wolitzer AL, Whittemore AS, West D, Seminara D, Olson ER, Spurdle AB, Chenevix-Trench G, Giles GG, Hopper JL, Concannon P (2006) Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T > G and c.1066-6T > G (IVS10-6T > G) from the Breast Cancer Family Registry. Hum Mutat 27(11):1122–1128CrossRefPubMed
14.
go back to reference Gutiérrez-Enríquez S, Fernet M, Dörk T et al (2004) Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosom Cancer 40:109–119CrossRefPubMed Gutiérrez-Enríquez S, Fernet M, Dörk T et al (2004) Functional consequences of ATM sequence variants for chromosomal radiosensitivity. Genes Chromosom Cancer 40:109–119CrossRefPubMed
15.
go back to reference Mao JH, Wu D, DelRosario R, Castellanos A, Balmain A, Perez-Losada J (2008) Atm heterozygosity does not increase tumor susceptibility to ionizing radiation alone or in a p53 heterozygous background. Oncogene 27:6596–6600CrossRefPubMed Mao JH, Wu D, DelRosario R, Castellanos A, Balmain A, Perez-Losada J (2008) Atm heterozygosity does not increase tumor susceptibility to ionizing radiation alone or in a p53 heterozygous background. Oncogene 27:6596–6600CrossRefPubMed
16.
go back to reference Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM (2013) The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genet Med 16:407–412CrossRefPubMed Mauer CB, Pirzadeh-Miller SM, Robinson LD, Euhus DM (2013) The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience. Genet Med 16:407–412CrossRefPubMed
17.
go back to reference Roberts NJ, Jiao Y, Yu J, Kopelovich L, Petersen GM, Bondy ML, Gallinger S, Schwartz AG, Syngal S, Cote ML, Axilbund J, Schulick R, Ali SZ, Eshleman JR, Velculescu VE, Goggins M, Vogelstein B, Papadopoulos N, Hruban RH, Kinzler KW, Klein AP (2012) ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2(1):41–46CrossRefPubMed Roberts NJ, Jiao Y, Yu J, Kopelovich L, Petersen GM, Bondy ML, Gallinger S, Schwartz AG, Syngal S, Cote ML, Axilbund J, Schulick R, Ali SZ, Eshleman JR, Velculescu VE, Goggins M, Vogelstein B, Papadopoulos N, Hruban RH, Kinzler KW, Klein AP (2012) ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov 2(1):41–46CrossRefPubMed
18.
go back to reference Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, Nio Y, Schulick RS, Bassi C, Kluijt I, Levy MJ (2013) International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62(3):339–347CrossRefPubMed Canto MI, Harinck F, Hruban RH, Offerhaus GJ, Poley JW, Kamel I, Nio Y, Schulick RS, Bassi C, Kluijt I, Levy MJ (2013) International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut 62(3):339–347CrossRefPubMed
Metadata
Title
ATM mutations for surgeons
Authors
Sara A. Mansfield
Robert Pilarski
Doreen M. Agnese
Publication date
01-07-2017
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2017
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-016-9959-4

Other articles of this Issue 3/2017

Familial Cancer 3/2017 Go to the issue

Original Article

Gastric tumours in FAP

Webinar | 19-02-2024 | 17:30 (CET)

Keynote webinar | Spotlight on antibody–drug conjugates in cancer

Antibody–drug conjugates (ADCs) are novel agents that have shown promise across multiple tumor types. Explore the current landscape of ADCs in breast and lung cancer with our experts, and gain insights into the mechanism of action, key clinical trials data, existing challenges, and future directions.

Dr. Véronique Diéras
Prof. Fabrice Barlesi
Developed by: Springer Medicine