Familial atypical multiple mole-melanoma (FAMMM) syndrome

Segregation analysis

Henry T. Lynch, R. M. Fusaro, W. J. Kimberling, J. F. Lynch, B. S. Danes

Research output: Contribution to journalArticle

78 Citations (Scopus)

Abstract

Genetic analysis was performed on four kindreds with clinical and pathological verification of the FAMMM syndrome. There were 80 affected or at risk members in these families. A segregation ratio of 0.47 was observed, which is consistent with an autosomal dominant mode of inheritance. Three obligate gene carriers who lacked any FAMMM phenotypic manifestations were observed and the rate of penetrance for the FAMMM gene was calculated to be 0.93. Cancer at all anatomical sites (exclusive of cutaneous malignant melanoma and intraocular malignant melanoma) showed a five-fold increase (p

Original languageEnglish
Pages (from-to)342-344
Number of pages3
JournalJournal of Medical Genetics
Volume20
Issue number5
StatePublished - 1983

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Dysplastic Nevus Syndrome
Penetrance
Genes
Melanoma
Neoplasms

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Lynch, H. T., Fusaro, R. M., Kimberling, W. J., Lynch, J. F., & Danes, B. S. (1983). Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis. Journal of Medical Genetics, 20(5), 342-344.

Familial atypical multiple mole-melanoma (FAMMM) syndrome : Segregation analysis. / Lynch, Henry T.; Fusaro, R. M.; Kimberling, W. J.; Lynch, J. F.; Danes, B. S.

In: Journal of Medical Genetics, Vol. 20, No. 5, 1983, p. 342-344.

Research output: Contribution to journalArticle

Lynch, HT, Fusaro, RM, Kimberling, WJ, Lynch, JF & Danes, BS 1983, 'Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis', Journal of Medical Genetics, vol. 20, no. 5, pp. 342-344.
Lynch, Henry T. ; Fusaro, R. M. ; Kimberling, W. J. ; Lynch, J. F. ; Danes, B. S. / Familial atypical multiple mole-melanoma (FAMMM) syndrome : Segregation analysis. In: Journal of Medical Genetics. 1983 ; Vol. 20, No. 5. pp. 342-344.
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