Susceptibility to basal cell carcinoma: associations with PTCH polymorphisms

Annals of Human Genetics
Richard C StrangePaul R Hoban

Abstract

Loss of function of the human patched gene (PTCH) is common and critical in basal cell carcinoma (BCC) development. Indirect evidence suggests polymorphism in PTCH mediates BCC risk. We studied 659 BCC cases and 300 controls to determine if exon 2(318), 3(429), 11(1552), 12(1665), 12(1686), 14(2199) and 23(3944) and intron 9(1336-135) and 15(2560+9)PTCH variants were sufficiently common for use in case-control studies, and if selected markers were associated with risk. Intron 15(2560+9) and exon 23(3944) variants were studied further. Their genotype frequencies were not significantly different in controls and cases, though frequency of the G(2560+9)-C(3944) haplotype was lower in all cases (odds ratio=0.44, p=0.009) and those stratified by BCC site and rate of development of further tumours. This association was not mediated by the extent of UVR exposure. We confirmed the robustness of these findings by showing these associations demonstrated similar odds ratios in two groups of randomly selected cases and controls, and using the false positive report probability (FPRP) approach described by Wacholder et al. (2004). The FPRP value (0.168) was in the noteworthy category. These data, showing for the first time that PTCH polymorph...Continue Reading

References

Oct 31, 2001·Journal of Photochemistry and Photobiology. B, Biology·B K Armstrong, A Kricker
Apr 23, 2002·Nature Reviews. Genetics·Luca CartegniAdrian R Krainer
Oct 18, 2002·Expert Review of Anticancer Therapy·Paul R HobanRichard C Strange
Nov 8, 2002·The Journal of Immunology : Official Journal of the American Association of Immunologists·Gareth A StewartSarah E M Howie
Jan 8, 2003·International Journal of Cancer. Journal International Du Cancer·Jenny Chang-ClaudeHeidi Hahn
Mar 19, 2003·Lancet·Helen M ColhounGeorge Davey Smith
Mar 22, 2003·Developmental Biology·Anthony E Oro, Kay Higgins
Dec 4, 2003·Dermatologic Surgery : Official Publication for American Society for Dermatologic Surgery [et Al.]·Benjamin W LeSueurSuzanne M Connolly
Mar 3, 2004·Environmental and Molecular Mutagenesis·Dhaval BodiwalaRichard C Strange
Mar 18, 2004·Journal of the National Cancer Institute·Duncan C Thomas, David G Clayton
Mar 18, 2004·Journal of the National Cancer Institute·Sholom WacholderNathaniel Rothman
Nov 18, 2004·Journal of the National Cancer Institute·Hans-Hermann Dubben

Citations

Nov 27, 2008·Orphanet Journal of Rare Diseases·Lorenzo Lo Muzio
Nov 23, 2015·Archives of Dermatological Research·Aleksandra LesiakJoanna Narbutt
Jun 29, 2007·The Journal of Investigative Dermatology·Ellen HeitzerPeter Wolf
Apr 29, 2006·The Journal of Investigative Dermatology·M LiboutetN Soufir
Mar 30, 2010·The British Journal of Dermatology·A BegniniM Gomez Lira
Aug 2, 2007·American Journal of Human Genetics·Jon Wakefield
Mar 28, 2009·American Journal of Hypertension·Fernando MartinezFelipe J Chaves
Aug 26, 2006·Journal of Dental Research·X-M GuT-J Li
May 26, 2006·European Journal of Human Genetics : EJHG·Paul R HobanRichard C Strange
Mar 9, 2007·Photochemical & Photobiological Sciences : Official Journal of the European Photochemistry Association and the European Society for Photobiology·M NorvalJ C van der Leun
Oct 13, 2009·Primates; Journal of Primatology·Vololoniaina R RazakamaharavoRick A Brenneman

Related Concepts

Pigmented Basal Cell Carcinoma
Mini-Exon
Introns
Cell Surface Proteins
Genetic Polymorphism
Hormone Receptors, Cell Surface
Malignant Neoplasm of Skin
Genetic Predisposition to Disease

Related Feeds

Carcinoma, Basal Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.