Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis

H. T. Lynch; R. M. Fusaro; W. J. Kimberling; J. F. Lynch; B. S. Danes

doi:10.1136/jmg.20.5.342

Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis

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

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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 language	English (US)
Pages (from-to)	342-344
Number of pages	3
Journal	Unknown Journal
Volume	20
Issue number	5
DOIs	https://doi.org/10.1136/jmg.20.5.342
State	Published - 1983
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

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title = "Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis",

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 ",

author = "Lynch, {H. T.} and Fusaro, {R. M.} and Kimberling, {W. J.} and Lynch, {J. F.} and Danes, {B. S.}",

year = "1983",

doi = "10.1136/jmg.20.5.342",

language = "English (US)",

volume = "20",

pages = "342--344",

journal = "Nuclear Physics A",

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T2 - Segregation analysis

AU - Lynch, H. T.

AU - Fusaro, R. M.

AU - Kimberling, W. J.

AU - Lynch, J. F.

AU - Danes, B. S.

PY - 1983

Y1 - 1983

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AB - 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

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Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis

Abstract

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