Literature DB >> 27988859

ATM mutations for surgeons.

Sara A Mansfield1, Robert Pilarski2, Doreen M Agnese3.   

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.

Entities:  

Keywords:  Ataxia-telangiectasia mutation; Breast cancer; Genetic screening

Mesh:

Substances:

Year:  2017        PMID: 27988859     DOI: 10.1007/s10689-016-9959-4

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  15 in total

Review 1.  Genetic predisposition to breast cancer: past, present, and future.

Authors:  Clare Turnbull; Nazneen Rahman
Journal:  Annu Rev Genomics Hum Genet       Date:  2008       Impact factor: 8.929

Review 2.  The ATM protein kinase: regulating the cellular response to genotoxic stress, and more.

Authors:  Yosef Shiloh; Yael Ziv
Journal:  Nat Rev Mol Cell Biol       Date:  2013-03-13       Impact factor: 94.444

3.  Malignant neoplasms in the families of patients with ataxia-telangiectasia.

Authors:  M Swift; L Sholman; M Perry; C Chase
Journal:  Cancer Res       Date:  1976-01       Impact factor: 12.701

4.  Atm heterozygosity does not increase tumor susceptibility to ionizing radiation alone or in a p53 heterozygous background.

Authors:  J H Mao; D Wu; R DelRosario; A Castellanos; A Balmain; J Perez-Losada
Journal:  Oncogene       Date:  2008-08-04       Impact factor: 9.867

5.  Functional consequences of ATM sequence variants for chromosomal radiosensitivity.

Authors:  Sara Gutiérrez-Enríquez; Marie Fernet; Thilo Dörk; Michael Bremer; Anthony Lauge; Dominique Stoppa-Lyonnet; Norman Moullan; Sandra Angèle; Janet Hall
Journal:  Genes Chromosomes Cancer       Date:  2004-06       Impact factor: 5.006

6.  Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer.

Authors:  Sean V Tavtigian; Peter J Oefner; Davit Babikyan; Anne Hartmann; Sue Healey; Florence Le Calvez-Kelm; Fabienne Lesueur; Graham B Byrnes; Shu-Chun Chuang; Nathalie Forey; Corinna Feuchtinger; Lydie Gioia; Janet Hall; Mia Hashibe; Barbara Herte; Sandrine McKay-Chopin; Alun Thomas; Maxime P Vallée; Catherine Voegele; Penelope M Webb; David C Whiteman; Suleeporn Sangrajrang; John L Hopper; Melissa C Southey; Irene L Andrulis; Esther M John; Georgia Chenevix-Trench
Journal:  Am J Hum Genet       Date:  2009-09-24       Impact factor: 11.025

7.  Penetrance of ATM Gene Mutations in Breast Cancer: A Meta-Analysis of Different Measures of Risk.

Authors:  Monica Marabelli; Su-Chun Cheng; Giovanni Parmigiani
Journal:  Genet Epidemiol       Date:  2016-04-25       Impact factor: 2.135

Review 8.  Gene panel testing for inherited cancer risk.

Authors:  Michael J Hall; Andrea D Forman; Robert Pilarski; Georgia Wiesner; Veda N Giri
Journal:  J Natl Compr Canc Netw       Date:  2014-09       Impact factor: 11.908

9.  ATM mutations in patients with hereditary pancreatic cancer.

Authors:  Nicholas J Roberts; Yuchen Jiao; Jun Yu; Levy Kopelovich; Gloria M Petersen; Melissa L Bondy; Steven Gallinger; Ann G Schwartz; Sapna Syngal; Michele L Cote; Jennifer Axilbund; Richard Schulick; Syed Z Ali; James R Eshleman; Victor E Velculescu; Michael Goggins; Bert Vogelstein; Nickolas Papadopoulos; Ralph H Hruban; Kenneth W Kinzler; Alison P Klein
Journal:  Cancer Discov       Date:  2011-12-29       Impact factor: 39.397

10.  The integration of next-generation sequencing panels in the clinical cancer genetics practice: an institutional experience.

Authors:  Caitlin B Mauer; Sara M Pirzadeh-Miller; Linda D Robinson; David M Euhus
Journal:  Genet Med       Date:  2013-10-10       Impact factor: 8.822

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  1 in total

1.  A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2.

Authors:  Huma Tariq; Rashid Imran; Sadaf Naz
Journal:  J Clin Neurol       Date:  2018-07-12       Impact factor: 3.077

  1 in total

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