Display options
Cite
Mueller CM, Korde LA, McMaster ML, et al. Familial testicular germ cell tumor: no associated syndromic pattern identified. Hered Cancer Clin Pract. 2014;12(1):3doi: 10.1186/1897-4287-12-3.
Mueller, C. M., Korde, L. A., McMaster, M. L., Peters, J. A., Bratslavsky, G., Watkins, R. J., Ling, A., Kratz, C. P., Wulfsberg, E. A., Rosenberg, P. S., & Greene, M. H. (2014). Familial testicular germ cell tumor: no associated syndromic pattern identified. Hereditary cancer in clinical practice, 12(1), 3. https://doi.org/10.1186/1897-4287-12-3
Mueller, Christine M, et al. "Familial testicular germ cell tumor: no associated syndromic pattern identified." Hereditary cancer in clinical practice vol. 12,1 (2014): 3. doi: https://doi.org/10.1186/1897-4287-12-3
Mueller CM, Korde LA, McMaster ML, Peters JA, Bratslavsky G, Watkins RJ, Ling A, Kratz CP, Wulfsberg EA, Rosenberg PS, Greene MH. Familial testicular germ cell tumor: no associated syndromic pattern identified. Hered Cancer Clin Pract. 2014 Feb 21;12(1):3. doi: 10.1186/1897-4287-12-3. PMID: 24559313; PMCID: PMC3937045.
Copy Download .nbib Format: NLM
Share it on

Hered Cancer Clin Pract. 2014 Feb 21;12(1):3. doi: 10.1186/1897-4287-12-3.

Familial testicular germ cell tumor: no associated syndromic pattern identified.

Hereditary cancer in clinical practice

Christine M Mueller, Larissa A Korde, Mary L McMaster, June A Peters, Gennady Bratslavsky, Rissah J Watkins, Alex Ling, Christian P Kratz, Eric A Wulfsberg, Philip S Rosenberg, Mark H Greene

Affiliations

  1. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. [email protected].

PMID: 24559313 PMCID: PMC3937045 DOI: 10.1186/1897-4287-12-3

Abstract

BACKGROUND: Testicular germ cell tumor (TGCT) is the most common malignancy in young men. Familial clustering, epidemiologic evidence of increased risk with family or personal history, and the association of TGCT with genitourinary (GU) tract anomalies have suggested an underlying genetic predisposition. Linkage data have not identified a rare, highly-penetrant, single gene in familial TGCT (FTGCT) cases. Based on its association with congenital GU tract anomalies and suggestions that there is an intrauterine origin to TGCT, we hypothesized the existence of unrecognized dysmorphic features in FTGCT.

METHODS: We evaluated 38 FTGCT individuals and 41 first-degree relatives from 22 multiple-case families with detailed dysmorphology examinations, physician-based medical history and physical examination, laboratory testing, and genitourinary imaging studies.

RESULTS: The prevalence of major abnormalities and minor variants did not significantly differ between either FTGCT individuals or their first-degree relatives when compared with normal population controls, except for tall stature, macrocephaly, flat midface, and retro-/micrognathia. However, these four traits were not manifest as a constellation of features in any one individual or family. We did detect an excess prevalence of the genitourinary anomalies cryptorchidism and congenital inguinal hernia in our population, as previously described in sporadic TGCT, but no congenital renal, retroperitoneal or mediastinal anomalies were detected.

CONCLUSIONS: Overall, our study did not identify a constellation of dysmorphic features in FTGCT individuals, which is consistent with results of genetic studies suggesting that multiple low-penetrance genes are likely responsible for FTGCT susceptibility.

References

  1. BMC Med Genet. 2010 May 17;11:77 - PubMed
  2. Cancer Genet Cytogenet. 1987 Jan;24(1):185-8 - PubMed
  3. Hum Reprod. 2001 May;16(5):972-8 - PubMed
  4. Br J Cancer. 1995 Feb;71(2):421-6 - PubMed
  5. Nat Genet. 2010 Jul;42(7):604-7 - PubMed
  6. Cancer Epidemiol Biomarkers Prev. 2007 Dec;16(12):2791-4 - PubMed
  7. Nat Genet. 2000 Feb;24(2):197-200 - PubMed
  8. Am J Med Genet A. 2006 Oct 1;140(19):2091-109 - PubMed
  9. Cancer. 2003 Feb 15;97(4):984-92 - PubMed
  10. JAMA. 2008 Jan 2;299(1):61-9 - PubMed
  11. Nat Genet. 2013 Jun;45(6):680-5 - PubMed
  12. Arch Dis Child. 1992 Oct;67(10):1286-7 - PubMed
  13. Cancer Res. 2009 Jul 1;69(13):5301-6 - PubMed
  14. Hum Mol Genet. 2013 Jul 1;22(13):2748-53 - PubMed
  15. Pediatr Clin North Am. 1997 Oct;44(5):1323-41 - PubMed
  16. Cancer Epidemiol. 2009 Jul;33(1):31-6 - PubMed
  17. Urol Oncol. 2010 Sep-Oct;28(5):492-9 - PubMed
  18. Nat Genet. 2013 Jun;45(6):686-9 - PubMed
  19. Pediatr Surg Int. 2010 Jan;26(1):115-7 - PubMed
  20. Genes Chromosomes Cancer. 2008 Mar;47(3):247-52 - PubMed
  21. Br J Cancer. 2004 May 4;90(9):1765-70 - PubMed
  22. Surg Clin North Am. 2008 Feb;88(1):27-43, vii-viii - PubMed
  23. APMIS. 2003 Jan;111(1):128-33; discussion 33-5 - PubMed
  24. Fam Cancer. 2009;8(4):451-6 - PubMed
  25. Hum Mol Genet. 2011 Aug 1;20(15):3109-17 - PubMed
  26. BJU Int. 2007 Feb;99(2):344-6 - PubMed
  27. Int J Cancer. 2001 Apr 1;92(1):144-50 - PubMed
  28. Am J Med Genet A. 2003 Dec 15;123A(3):211-30 - PubMed
  29. Int J Cancer. 2005 Sep 1;116(3):331-9 - PubMed
  30. J Natl Cancer Inst. 2005 Oct 5;97(19):1407-27 - PubMed
  31. Br J Cancer. 1997;75(7):1084-7 - PubMed
  32. Nat Genet. 2009 Jul;41(7):811-5 - PubMed
  33. Am J Hum Genet. 2005 Dec;77(6):1034-43 - PubMed
  34. Pediatrics. 1993 Jul;92(1):44-9 - PubMed
  35. J Urol. 2003 Dec;170(6 Pt 1):2396-401 - PubMed
  36. Nat Genet. 2009 Jul;41(7):807-10 - PubMed
  37. Hum Mol Genet. 2006 Feb 1;15(3):443-51 - PubMed
  38. J Med Genet. 2011 Jul;48(7):473-6 - PubMed
  39. Br J Cancer. 2008 Nov 18;99(10):1748-53 - PubMed
  40. Lancet Oncol. 2004 Jun;5(6):363-71 - PubMed
  41. APMIS. 2003 Jan;111(1):1-9; discussion 9-11 - PubMed

Publication Types