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Variation in BRCA1 cancer risks by mutation position.

Deborah Thompson1, Douglas Easton,

  • 1Cancer Research Campaign Genetic Epidemiology Unit, Strangeways Research Laboratories, University of Cambridge, Cambridge CB1 8RN, United Kingdom.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology
|April 3, 2002
PubMed
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BRCA1 mutation position impacts cancer risk. Central mutations increase ovarian cancer risk, while 3' end mutations reduce it, contradicting prior findings.

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • Previous studies suggested BRCA1 mutation position correlates with breast and ovarian cancer risks.
  • A hypothesis existed that 3' end mutations confer lower ovarian cancer risks.

Purpose of the Study:

  • To investigate genotype-phenotype correlations in BRCA1 mutations.
  • To evaluate the impact of mutation location on breast and ovarian cancer risks.

Main Methods:

  • Analysis of 356 families with protein-truncating BRCA1 mutations.
  • Conditional maximum likelihood estimation to model cancer risks.
  • Comparison of risks based on mutation location (central, 5', 3').

Main Results:

  • Mutations in BRCA1's central region (nucleotides 2401-4190) showed a significantly higher ovarian:breast cancer ratio.

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  • Central region mutations were associated with significantly lower breast cancer risk (RR, 0.71).
  • Mutations 3' to nucleotide 4191 showed significantly reduced ovarian cancer risk (RR, 0.81).

    • Conclusions:

    • BRCA1 mutation position is a significant factor in determining breast and ovarian cancer risks.
    • Findings challenge previous assumptions about 3' end mutations and ovarian cancer risk.
    • Missense mutations in the RING domain may share similar risk profiles with 3' end truncating mutations.