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A segregation analysis of testicular cancer based on Norwegian and Swedish families

Heimdal, K; Olsson, Håkan LU ; Tretli, S; Fosså, S D; Børresen, A L and Bishop, D T (1997) In British Journal of Cancer 75(7). p.7-1084
Abstract

Clustering of testicular cancer cases in families is well known, although the aetiology is not. We present the results of a segregation analysis performed with the algorithm Pointer on familial data on 978 Scandinavian patients with testicular cancer. The segregation analysis favoured the involvement of major gene effects over models incorporating solely polygenic effects in testicular cancer aetiology. Overall, a recessive model best fits the family observations with an estimated gene frequency of 3.8% and a lifetime risk for homozygous men of developing the disease of 43%. This implies that 7.6% of men in the general population will be carriers of the mutant allele and that 0.1% would be homozygote and are, therefore, at high risk of... (More)

Clustering of testicular cancer cases in families is well known, although the aetiology is not. We present the results of a segregation analysis performed with the algorithm Pointer on familial data on 978 Scandinavian patients with testicular cancer. The segregation analysis favoured the involvement of major gene effects over models incorporating solely polygenic effects in testicular cancer aetiology. Overall, a recessive model best fits the family observations with an estimated gene frequency of 3.8% and a lifetime risk for homozygous men of developing the disease of 43%. This implies that 7.6% of men in the general population will be carriers of the mutant allele and that 0.1% would be homozygote and are, therefore, at high risk of developing the cancer. The testicular cancer incidence has changed greatly during the last generation. Also, the lethality of the disease has changed because of the introduction of new therapy. As failure to take account of such time trends might lead to inappropriate evidence for a recessive model, the analyses were repeated under different assumptions. The analyses favoured a recessive model of inheritance under all assumptions tested. However, the assumptions underlying the analyses are complex and, as this is the first segregation analysis of testicular cancer, the results must be interpreted cautiously.

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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Adolescent, Adult, Age Factors, Humans, Likelihood Functions, Male, Middle Aged, Norway, Sweden, Testicular Neoplasms
in
British Journal of Cancer
volume
75
issue
7
pages
4 pages
publisher
Nature Publishing Group
external identifiers
  • Scopus:0030954879
ISSN
0007-0920
language
English
LU publication?
yes
id
054f9392-0e42-46b6-8d8c-38b2b8b71da7
date added to LUP
2016-09-18 12:50:04
date last changed
2016-10-13 05:13:47
@misc{054f9392-0e42-46b6-8d8c-38b2b8b71da7,
  abstract     = {<p>Clustering of testicular cancer cases in families is well known, although the aetiology is not. We present the results of a segregation analysis performed with the algorithm Pointer on familial data on 978 Scandinavian patients with testicular cancer. The segregation analysis favoured the involvement of major gene effects over models incorporating solely polygenic effects in testicular cancer aetiology. Overall, a recessive model best fits the family observations with an estimated gene frequency of 3.8% and a lifetime risk for homozygous men of developing the disease of 43%. This implies that 7.6% of men in the general population will be carriers of the mutant allele and that 0.1% would be homozygote and are, therefore, at high risk of developing the cancer. The testicular cancer incidence has changed greatly during the last generation. Also, the lethality of the disease has changed because of the introduction of new therapy. As failure to take account of such time trends might lead to inappropriate evidence for a recessive model, the analyses were repeated under different assumptions. The analyses favoured a recessive model of inheritance under all assumptions tested. However, the assumptions underlying the analyses are complex and, as this is the first segregation analysis of testicular cancer, the results must be interpreted cautiously.</p>},
  author       = {Heimdal, K and Olsson, Håkan and Tretli, S and Fosså, S D and Børresen, A L and Bishop, D T},
  issn         = {0007-0920},
  keyword      = {Adolescent,Adult,Age Factors,Humans,Likelihood Functions,Male,Middle Aged,Norway,Sweden,Testicular Neoplasms},
  language     = {eng},
  number       = {7},
  pages        = {7--1084},
  publisher    = {ARRAY(0x9984960)},
  series       = {British Journal of Cancer},
  title        = {A segregation analysis of testicular cancer based on Norwegian and Swedish families},
  volume       = {75},
  year         = {1997},
}