Frequency and Carrier Risk Associated with Common BRCA1 and BRCA2 Mutations in Ashkenazi Jewish Breast Cancer Patients

Details

• Personal Author:
  Bleiweiss IJ ; Brower ST ; Eng CM ; Fodor FH ; McCurdy LD ; Tartter PI ; Walsh MM ; Weston A
• Description:
  Based on breast cancer families with multiple and/or early-onset cases, estimates of the lifetime risk of breast cancer in carriers of BRCA1 or BRCA2 mutations may be as high as 85%. The risk for individuals not selected for family history or other risk factors is uncertain. We determined the frequency of the common BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations in a series of 268 anonymous Ashkenazi Jewish women with breast cancer, regardless of family history or age at onset. DNA was analyzed for the three mutations by allele-specific oligonucleotide hybridization. Eight patients (3.0%, 95% confidence interval [CI] 1.5%-5.8%) were heterozygous for the 185delAG mutation, two (0.75%, 95% CI 0.20-2.7) for the 5382insC mutation, and eight (3.0%, 95% CI 1.5-5.8) for the 6174delT mutation. The lifetime risk for breast cancer in Ashkenazi Jewish carriers of the BRCA1 185delAG or BRCA2 6174delT mutations was calculated to be 36%, approximately three times the overall risk for the general population (relative risk 2.9, 95% CI 1.5-5.8). For the 5382insC mutation, because of the low number of carriers found, further studies are necessary. The results differ markedly from previous estimates based on high-risk breast cancer families and are consistent with lower estimates derived from a recent population-based study in the Baltimore area. Thus, presymptomatic screening and counseling for these common mutations in Ashkenazi Jewish women not selected for family history of breast cancer should be reconsidered until the risk associated with these mutations is firmly established, especially since early diagnostic and preventive-treatment modalities are limited. [Description provided by NIOSH]
• Subjects:
  Demography Genetics Neoplasms Occupational Health Preventive Medicine Race Factors Risk Assessment Risk Factors Safety Sex Characteristics
• Keywords:
  Breast-cancer Cancer Demographic-characteristics Gene-mutation Preventive-medicine Racial-factors Risk-analysis Risk-factors Sex-factors
• ISSN:
  0002-9297
• Document Type:
  Text
• Genre:
  Journal Article
• Place as Subject:
  New York ; OSHA Region 2 ; OSHA Region 3 ; West Virginia
• CIO:
  National Institute for Occupational Safety and Health (NIOSH)
• Division:
  HELD - Health Effects Laboratory Division
• Topic:
  Workplace Safety & Health
• Location:
  North America
• Pages in Document:
  45-51
• Volume:
  63
• Issue:
  1
• NIOSHTIC Number:
  nn:20025286
• Citation:
  Am J Hum Genet 1998 Jul; 63(1):45-51
• Contact Point Address:
  Dr. C. M. Eng, Department of Human Genetics, Box 1497, Mount Sinai School of Medicine, One Gustave Levy Place, New York, NY 10029
• Email:
  ceng@smtplink.mssm.edu
• Federal Fiscal Year:
  1998
• Peer Reviewed:
  True
• Source Full Name:
  American Journal of Human Genetics
• Collection(s):
  National Institute for Occupational Safety and Health
• Main Document Checksum:
  urn:sha-512:81e36f2b9584c7da6f5cf2b85b5aff3bd4f7505b2990acb302e6842f6f5cd5d18990cf35166f50872ef4dc88003d79c335f6fa00b1bd673c868aed368e9eee18
• Download URL:
  https://stacks.cdc.gov/view/cdc/196728/cdc_196728_DS1.pdf
• File Type:
  [PDF - 105.64 KB ]