Estimating the relative risk of developing melanoma in INK4A carriers Journal Article


Authors: Berwick, M.; Orlow, I.; Mahabir, S.; Myskowski, P.; Coit, D.; Brady, M. S.; Roy, P.; Song, Y.; Canchola, R.; Barz, A.; Halpern, A.; Bolognia, J.; Eng, S.; Elahi, A.; Begg, C. B.
Article Title: Estimating the relative risk of developing melanoma in INK4A carriers
Abstract: Estimation of the relative risk of cancer due to rare germline mutations using population-based epidemiological techniques is challenging, since studies with very large numbers of subjects are required. In this pilot study using a novel study design, we evaluated the role of INK4A mutations in melanoma by comparing patients with multiple primary melanomas to those with single primaries. Patients were ascertained from the Surgery and Dermatology Clinics at Memorial Sloan-Kettering Cancer Center and at the Yale University Pigmented Lesion Clinic. Subjects completed a questionnaire covering risk factors for melanoma and were tested for INK4A mutations. Five (8%) of 65 patients with multiple primaries had a mutation, compared with none of 88 patients with single primaries (P=0.03). Examination of other factors, such as number of nevi on the arms of the patients, fair skin, hair and eye colour, and other phenotypic characteristics associated with the risk of melanoma, demonstrates that these factors exhibit higher prevalence in the multiple primary cases than in the single primaries. These results provide evidence of the utility of the new study design in evaluating the impact of rare but highly penetrant cancer risk factors. © 2004 Lippincott Williams & Wilkins.
Keywords: adolescent; adult; controlled study; middle aged; unclassified drug; gene mutation; case-control studies; cancer risk; polymerase chain reaction; phenotype; melanoma; nevus; skin neoplasms; prevalence; odds ratio; risk factors; heterozygote; risk factor; risk assessment; questionnaires; hair color; questionnaire; pilot study; pilot projects; nucleic acid denaturation; cyclin-dependent kinase inhibitor p16; chromatography, liquid; cyclin dependent kinase inhibitor; multiple cancer; neoplasms, multiple primary; germ-line mutation; skin color; eye color; relative risk; ink4a; humans; human; male; female; priority journal; article; cyclin dependent kinase 4 inhibitor
Journal Title: European Journal of Cancer Prevention
Volume: 13
Issue: 1
ISSN: 0959-8278
Publisher: Lippincott Williams & Wilkins  
Date Published: 2004-02-01
Start Page: 65
End Page: 70
Language: English
DOI: 10.1097/00008469-200402000-00010
PROVIDER: scopus
PUBMED: 15075790
DOI/URL:
Notes: Eur.J. Cancer Prev. -- Cited By (since 1996):9 -- Export Date: 16 June 2014 -- CODEN: EJUPE -- Source: Scopus
Altmetric Score
MSK Authors
  1. Abul H F Elahi
    16 Elahi
  2. Stella Lee Eng
    6 Eng
  3. Colin B Begg
    241 Begg
  4. Allan C Halpern
    305 Halpern
  5. Marianne Berwick
    120 Berwick
  6. Allison Barz
    11 Barz
  7. Irene Orlow
    193 Orlow
  8. Yulin Song
    88 Song
  9. Mary Sue Brady
    168 Brady
  10. Daniel Coit
    424 Coit
  11. Patricia Myskowski
    139 Myskowski
  12. Pampa Roy
    33 Roy
  13. Somdat   Mahabir
    15 Mahabir