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Screening breast cancer patients for ATM mutations and polymorphisms by using denaturing high‐performance liquid chromatography
Author(s) -
Atencio David P.,
Iannuzzi Christopher M.,
Green Sheryl,
Stock Richard G.,
Bernstein Jonine L.,
Rosenstein Barry S.
Publication year - 2001
Publication title -
environmental and molecular mutagenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 87
eISSN - 1098-2280
pISSN - 0893-6692
DOI - 10.1002/em.1072
Subject(s) - denaturing high performance liquid chromatography , missense mutation , exon , genetics , mutation , biology , breast cancer , coding region , gene , microbiology and biotechnology , cancer
All 62 coding exons of the ATM gene, along with 10–20 bases of the intronic region flanking each exon, were screened for DNA base sequence alterations by using denaturing high‐performance liquid chromatography (DHPLC) in a series of 52 breast cancer patients. Six (12%) of these patients exhibited a total of eight different novel germ‐line mutations that do not represent common polymorphisms. Of these, three patients possessed four nonconservative missense mutations while two conservative missense and two synonymous mutations were detected in the other three patients. In addition, 43 patients were found to have a total of 141 DNA sequence variations representing 21 different common polymorphisms and rare variants. An analysis of the relationship between the presence of a novel ATM mutation and either patient demographics or tumor properties demonstrated a significant difference between African Americans (3/7 = 43%) and other ethnic groups (3/45 = 7%, P = 0.026). None of the other characteristics examined was found to be related to mutation status. Environ. Mol. Mutagen. 38:200–208, 2001. © 2001 Wiley‐Liss, Inc.