ATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based assay.
Based upon the results of several epidemiologic studies, it has been suggested that women who are carriers for a mutation in the ataxia telangiectasia-mutated (ATM) gene are susceptible for the development of breast cancer. Therefore, 37 consecutive breast cancer patients were screened for the presence of a germline ATM mutation using a non-isotopic RNase cleavage-based assay (NIRCA). This paper reports the first use of NIRCA for detection of ATM mutations in breast cancer patients. Using this assay, no ATM mutations were found in our patient population. This result is similar to the findings of other studies that have employed approaches complementary to NIRCA.
Drumea
K C
KC
Department of Radiation Oncology, Mount Sinai School of Medicine of New York University, New York 10029, USA.
Levine
E
E
Bernstein
J
J
Shank
B
B
Green
S
S
Kaplan
E
E
Mandell
L
L
Cropley
J
J
Obropta
J
J
Braccia
I
I
Krupnik
A
A
Rosenstein
B S
BS
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D064007:Ataxia Telangiectasia Mutated Proteins; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018270:Carcinoma, Ductal, Breast / Q000453:epidemiology / Q000235:genetics; D018797:Cell Cycle Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D005260:Female; D006580:Genetic Carrier Screening; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D015995:Prevalence; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D012334:RNA, Neoplasm / Q000302:isolation & purification; D012260:Ribonucleases / Q000737:chemistry*; D025521:Tumor Suppressor Proteins; D014481:United States / Q000453:epidemiology
D018797:Cell Cycle Proteins; D017931:DNA Primers; D004268:DNA-Binding Proteins; D012334:RNA, Neoplasm; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases; D012260:Ribonucleases