ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer

J L Bernstein; L Bernstein; W D Thompson; C F Lynch; K E Malone; S L Teitelbaum; J H Olsen; H Anton-Culver; J D Boice; B S Rosenstein; A-L Børresen-Dale; R A Gatti; P Concannon; R W Haile; WECARE Study Collaborative Group

doi:10.1038/sj.bjc.6601289

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ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer

Journal article

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ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer

J L Bernstein, L Bernstein, W D Thompson, C F Lynch, K E Malone, S L Teitelbaum, J H Olsen, H Anton-Culver, J D Boice, B S Rosenstein, …

British journal of cancer, Vol.89(8), pp.1513-1516

10/20/2003

DOI: 10.1038/sj.bjc.6601289

PMCID: PMC2394328

PMID: 14562025

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Abstract

Recent reports suggest that two ATM gene mutations, 7271T>G and IVS10-6T>G, are associated with a high risk of breast cancer among multiple-case families. To assess the importance of these two mutations in another 'high-risk' group, young women (under age 51) with multiple primaries, we screened a large population-based series of young women with bilateral breast cancer and compared the frequency of these mutations among similar women diagnosed with unilateral breast cancer. The 1149 women included were enrolled in an ongoing population-based case-control study of the genetic factors that contribute to bilateral breast cancer; they were not selected on the basis of family history of cancer. Screening for 7271T>G and IVS10-6T>G ATM gene mutations was conducted using DHPLC followed by direct sequencing. The 7271T>G mutation was detected in one out of 638 (0.2%) women with unilateral breast cancer and in none of the bilateral cases, and the IVS10-6T>G mutation in one out of 511 (0.2%) bilateral and in eight out of 638 (1.3%) unilateral breast cancer cases. Carriers of either mutation were not limited to women with a family history. Given the likelihood that young women with bilateral breast cancer have a genetic predisposition, the observed mutation distribution is contrary to that expected if these two mutations were to play an important role in breast carcinogenesis among individuals at high risk.

Ataxia Telangiectasia

Genetic Predisposition to Disease

Humans

Leucine Zippers

Middle Aged

Risk Factors

Protein-Serine-Threonine Kinases - genetics

Ataxia Telangiectasia Mutated Proteins

Phosphatidylinositol 3-Kinases

Case-Control Studies

Breast Neoplasms - genetics

Mass Screening

Breast Neoplasms - pathology

DNA Mutational Analysis

Pedigree

Adult

Female

Aged

Neoplasms, Second Primary - genetics

Neoplasms, Second Primary - pathology

Cell Cycle Proteins

Tumor Suppressor Proteins

DNA-Binding Proteins

Details

Title: Subtitle: ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer
Creators: J L Bernstein - Department of Community and Preventive Medicine, Mount Sinai School of Medicine, One Gustave L Levy Place, Box 1043, New York, NY 10029-6574, USA. jonine.bernstein@mssm.edu
L Bernstein
W D Thompson
C F Lynch
K E Malone
S L Teitelbaum
J H Olsen
H Anton-Culver
J D Boice
B S Rosenstein
A-L Børresen-Dale
R A Gatti
P Concannon
R W Haile
WECARE Study Collaborative Group
Resource Type: Journal article
Publication Details: British journal of cancer, Vol.89(8), pp.1513-1516
DOI: 10.1038/sj.bjc.6601289
PMID: 14562025
PMCID: PMC2394328
NLM abbreviation: Br J Cancer
ISSN: 0007-0920
eISSN: 1532-1827
Publisher: England
Grant note: R01 CA129639 / NCI NIH HHS U01 CA83178 / NCI NIH HHS U01 CA083178 / NCI NIH HHS
Language: English
Date published: 10/20/2003
Academic Unit: Epidemiology
Record Identifier: 9983995122302771

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