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

Department of Preventive Medicine

Research output: Contribution to journal › Article › peer-review

78 Scopus citations

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

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Access to Document

10.1136/jmg.20.5.342

Fingerprint Dive into the research topics of 'Familial atypical multiple mole-melanoma (FAMMM) syndrome: Segregation analysis'. Together they form a unique fingerprint.

Cite this

@article{59566eb6bd8e48b0ac1f64fa68099d71,

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",

issn = "0375-9474",

publisher = "Elsevier",

number = "5",

}

TY - JOUR

T1 - Familial atypical multiple mole-melanoma (FAMMM) syndrome

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

N2 - 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

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

UR - http://www.scopus.com/inward/record.url?scp=0020557521&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0020557521&partnerID=8YFLogxK

U2 - 10.1136/jmg.20.5.342

DO - 10.1136/jmg.20.5.342

M3 - Article

C2 - 6644764

AN - SCOPUS:0020557521

VL - 20

SP - 342

EP - 344

JO - Nuclear Physics A

JF - Nuclear Physics A

SN - 0375-9474

IS - 5

ER -