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Y chromosome haplotypes and testicular cancer in the English population
  1. L Quintana-Murci1,2,
  2. M E Weale3,4,
  3. M G Thomas3,
  4. E Erdei5,
  5. N Bradman3,
  6. J H Shanks6,
  7. C Krausz1,7,
  8. K McElreavey1
  1. 1Reproduction, Fertility and Populations, Institut Pasteur, Paris, France
  2. 2CNRS URA1961, Institut Pasteur, Paris, France
  3. 3The Centre for Genetic Anthropology, Departments of Biology and Anthropology, University College London, University of London, London, UK
  4. 4Genostics Ltd, 28/30 Little Russell St, London WC1A 2HN, UK
  5. 5Urology Unit, National Health Centre, Budapest, Hungary
  6. 6Department of Histopathology, Christie Hospital, Manchester, UK
  7. 7Andrology Unit, University of Florence, Florence, Italy
  1. Correspondence to:
 Dr K McElreavey, Reproduction, Fertility and Populations, Institut Pasteur, 25 rue Dr Roux, 75724 Paris Cedex 15, France;
 kenmce{at}pasteur.fr

https://doi.org/10.1136/jmg.40.3.e20

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    Testicular cancer (TC) affects 1 in 500 males and is the most common malignancy among young men in western European populations; for example, in Denmark 1% of all men now develop TC.1–4 More than 97% of testes cancers are germ cell tumours.4 Although the aetiology of these malignancies is unknown, there is accumulating evidence of an intrauterine stage of TC development that may involve both environmental and genetic factors acting on the primordial gonocyte.4 Although many tumour suppressor genes have been studied, there is little evidence supporting a role for these factors in the pathogenesis of TC.5 A number of epidemiological studies suggest that hypospadias, cryptorchidism, testicular cancer, and male infertility may share, in part, a common aetiology and this has given rise to the term “testicular dysgenesis syndrome”.4 TC is associated with poor spermatogenic function and recent data indicate that this dysfunction is associated with impaired infertility several years before diagnosis.6 Spermatogenic dysfunction is more common than can be explained by either local tumour or general cancer effect, since patients with other malignant diseases have normal, or only slightly decreased, semen quality.7

    Key points

    • The incidence of testicular cancer has increased world wide by a factor of 3-4 during the last decades. The observations of both an apparent decrease in semen quality in the general population and a reduced spermatogenic function in males presenting with testicular cancer suggest that both disorders may share a common aetiology.

    • Since the human Y chromosome encodes several genes necessary for germ cell development and maintenance, it is possible that Y encoded factors are also involved in testicular cancer formation or development.

    • To test this hypothesis, we have analysed a set of 13 Y linked polymorphisms (seven biallelic and six microsatellite markers) to defined Y chromosome …

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