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Familial testicular cancer: lack of evidence for trinucleotide repeat expansions and association with PKD1 in one family
  1. B T TEH,
  2. K LINBLAD,
  3. B NORD,
  4. S KYTÖLÄ,
  5. M SCHALLING,
  6. C LARSSON
  1. Department of Molecular Medicine, Karolinska Hospital, CMM L8:01, S-17176 Stockholm, Sweden
  2. Haddow Laboratories, Institute of Cancer Research, Sutton, UK
  3. Department of Urology, Princess Alexandra Hospital, Brisbane, Australia
    1. E RAPLEY,
    2. P BIGGS,
    3. R HUDDART,
    4. M STRATTON
    1. Department of Molecular Medicine, Karolinska Hospital, CMM L8:01, S-17176 Stockholm, Sweden
    2. Haddow Laboratories, Institute of Cancer Research, Sutton, UK
    3. Department of Urology, Princess Alexandra Hospital, Brisbane, Australia
      1. S HII,
      2. D NICOL
      1. Department of Molecular Medicine, Karolinska Hospital, CMM L8:01, S-17176 Stockholm, Sweden
      2. Haddow Laboratories, Institute of Cancer Research, Sutton, UK
      3. Department of Urology, Princess Alexandra Hospital, Brisbane, Australia

        https://doi.org/10.1136/jmg.36.4.348

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          Editor—Familial testicular cancer has been extensively studied but its gene(s) locus is yet to be localised. This is probably related to the fact that the majority of these families are small with possibly reduced penetrance and genetic heterogeneity. Recently, an increase in CAG/CTG tract size was reported in five families examined and this germline transmission of expanded (CAG)n tracts was postulated to play a role in testicular tumorigenesis.1 Polycystic kidney disease is a genetically heterogeneous disease with at least three disease loci: one in chromosome 16 (PKD1), one in chromosome 4 (PKD2), and one or more yet to be determined.2

          We describe here a family with familial testicular cancer and familial polycystic kidney disease (PKD1). The proband (fig 1, III.5) is a 50 year old white man with polycystic kidney disease and deteriorating …

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