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Diagnosis and Management of Hereditary Basal Cell Skin Cancer

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Rare Hereditary Cancers

Part of the book series: Recent Results in Cancer Research ((RECENTCANCER,volume 205))

Abstract

Basal cell carcinoma (BCC) is the most common cancer in Caucasians worldwide and its incidence is rising. It is generally considered a sporadic tumour, most likely to affect fair-skinned individuals exposed to ultraviolet (UV) radiation. This chapter focusses on the approach to recognising the relatively few individuals in whom a high-risk hereditary susceptibility may be present. Gorlin syndrome is the main consideration and the gene most commonly mutated is PTCH1, a key regulator of the Hedgehog developmental pathway. Recently, loss of function of another gene in the same pathway, SUFU, has been found to explain a subset of families. Understanding the pathogenesis of familial BCCs has advanced the understanding of the biology of sporadic tumours and led to targeted therapy trials. The management of familial BCCs remains a challenge due to significant unmet needs for non-surgical treatments and a high burden of disease for the individual. Together with the prospect of advances in gene discovery and translation, these challenges highlight the need for ongoing review of at-risk and affected individuals by a multidisciplinary team.

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References

  • Ali FR, Collier NJ, Evans DG, Costello M, Webster S, Lear JT (2014) National survey of patients with Gorlin syndrome highlights poor awareness, multiple treatments and profound psychosocial impact of disease. J Eur Acad Dermatol Venereol

    Google Scholar 

  • Ally MS, Tang JY, Joseph T, Thompson B, Lindgren J, Raphael MA, Ulerio G, Chanana AM, Mackay-Wiggan JM, Bickers DR, Epstein EH Jr (2014) The use of vismodegib to shrink keratocystic odontogenic tumors in patients with basal cell nevus syndrome. JAMA Dermatol 150:542–545

    Article  PubMed  PubMed Central  Google Scholar 

  • Basset-Seguin N, Bissonnette R, Girard C, Haedersdal M, Lear JT, Paul C, Piaserico S (2014) Consensus recommendations for the treatment of basal cell carcinomas in Gorlin syndrome with topical methylaminolaevulinate-photodynamic therapy. J Eur Acad Dermatol Venereol 28:626–632

    Article  CAS  PubMed  Google Scholar 

  • Bath-Hextall F, Leonardi-Bee J, Smith C, Meal A, Hubbard R (2007) Trends in incidence of skin basal cell carcinoma. Additional evidence from a UK primary care database study. Int J Cancer 121:2105–2108

    Article  CAS  PubMed  Google Scholar 

  • Bettoli V, Zauli S, Virgili A (2013) Retinoids in the chemoprevention of non-melanoma skin cancers: why, when and how. J Dermatolog Treat 24:235–237

    Article  CAS  PubMed  Google Scholar 

  • Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG (2014) Intronic splicing mutations in PTCH1 cause Gorlin syndrome. Fam Cancer 13:477–480

    Article  CAS  PubMed  Google Scholar 

  • Boonchai W, Green A, Ng J, Dicker A, Chenevix-Trench G (2000) Basal cell carcinoma in chronic arsenicism occurring in Queensland, Australia, after ingestion of an asthma medication. J Am Acad Dermatol 43:664–669

    Article  CAS  PubMed  Google Scholar 

  • Box NF, Duffy DL, Irving RE, Russell A, Chen W, Griffyths LR, Parsons PG, Green AC, Sturm RA (2001) Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol 116:224–229

    Article  CAS  PubMed  Google Scholar 

  • Bradford PT, Goldstein AM, Tamura D, Khan SG, Ueda T, Boyle J, Oh KS, Imoto K, Inui H, Moriwaki S, Emmert S, Pike KM, Raziuddin A, Plona TM, Digiovanna JJ, Tucker MA, Kraemer KH (2011) Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet 48:168–176

    Article  PubMed  PubMed Central  Google Scholar 

  • Brugieres L, Remenieras A, Pierron G, Varlet P, Forget S, Byrde V, Bombled J, Puget S, Caron O, Dufour C, Delattre O, BRESSAC-DE PAILLERETS B, GRILL J (2012) High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. J Clin Oncol 30:2087–2093

    Article  CAS  PubMed  Google Scholar 

  • Cowey CL (2013) Targeted therapy for advanced Basal-cell carcinoma: vismodegib and beyond. Dermatol Ther (Heidelb) 3:17–31

    Article  Google Scholar 

  • Epstein EH (2008) Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer 8:743–754

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Evans DG, Farndon PA (2002) (updated 2013) Nevoid basal cell carcinoma syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) GeneReviews(R). Seattle (WA)

    Google Scholar 

  • Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30:460–464

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Farndon PA (2005) Gorlin syndrome (nevoid basal cell carcinoma syndrome). In: Cassidy SB and Allanson JE (ed) Management of genetic syndromes. Wiley-Liss, Inc., New York

    Google Scholar 

  • Fine JD, Johnson LB, Weiner M, Li KP, Suchindran C (2009) Epidermolysis bullosa and the risk of life-threatening cancers: the National EB Registry experience, 1986–2006. J Am Acad Dermatol 60:203–211

    Article  PubMed  Google Scholar 

  • Fitzpatrick TB (1988) The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 124:869–871

    Article  CAS  PubMed  Google Scholar 

  • Fujii K, Ohashi H, Suzuki M, Hatsuse H, Shiohama T, Uchikawa H, Miyashita T (2013) Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome. Fam Cancer 12:611–614

    Article  PubMed  Google Scholar 

  • Gallagher RP, Hill GB, Bajdik CD, Fincham S, Coldman AJ, McLean DI, Threlfall WJ (1995) Sunlight exposure, pigmentary factors, and risk of nonmelanocytic skin cancer. I. Basal cell carcinoma. Arch Dermatol 131:157–163

    CAS  PubMed  Google Scholar 

  • Garre ML, Cama A, Bagnasco F, Morana G, Giangaspero F, Brisigotti M, Gambini C, Forni M, Rossi A, Haupt R, Nozza P, Barra S, Piatelli G, Viglizzo G, Capra V, Bruno W, Pastorino L, Massimino M, Tumolo M, Fidani P, Dallorso S, Schumacher RF, Milanaccio C, Pietsch T (2009) Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome—a new clinical perspective. Clin Cancer Res 15:2463–2471

    Article  PubMed  Google Scholar 

  • Goldstein AM, Pastakia B, Digiovanna JJ, Poliak S, Santucci S, Kase R, Bale AE, Bale SJ (1994) Clinical findings in two African-American families with the nevoid basal cell carcinoma syndrome (NBCC). Am J Med Genet 50:272–281

    Article  CAS  PubMed  Google Scholar 

  • Gonnissen A, Isebaert S, Haustermans K (2015) Targeting the Hedgehog signaling pathway in cancer: beyond Smoothened. Oncotarget 6:13899–13913

    Google Scholar 

  • Gorlin RJ (2004) Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med 6:530–539

    Article  PubMed  Google Scholar 

  • Guo YY, Zhang JY, Li XF, Luo HY, Chen F, Li TJ (2013) PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. PLoS ONE 8:e77305

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841–851

    Article  CAS  PubMed  Google Scholar 

  • Hartevelt MM, Bavinck JN, Kootte AM, Vermeer BJ, Vandenbroucke JP (1990) Incidence of skin cancer after renal transplantation in The Netherlands. Transplantation 49:506–509

    Article  CAS  PubMed  Google Scholar 

  • Jacob L, Lum L (2007) Deconstructing the hedgehog pathway in development and disease. Science 318:66–68

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Jayaraman SS, Rayhan DJ, Hazany S, Kolodney MS (2014) Mutational landscape of basal cell carcinomas by whole-exome sequencing. J Invest Dermatol 134:213–220

    Article  CAS  PubMed  Google Scholar 

  • Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH Jr, SCOTT M (1996) Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 272:1668–1671

    Article  CAS  PubMed  Google Scholar 

  • Jones EA, Sajid MI, Shenton A, Evans DG (2011) Basal cell carcinomas in gorlin syndrome: a review of 202 patients. J Skin Cancer 2011:217378

    Article  PubMed  PubMed Central  Google Scholar 

  • Karagas MR, McDonald JA, Greenberg ER, Stukel TA, Weiss JE, Baron JA, Stevens MM (1996) Risk of basal cell and squamous cell skin cancers after ionizing radiation therapy. For The Skin Cancer Prevention Study Group. J Natl Cancer Inst 88:1848–1853

    Article  CAS  PubMed  Google Scholar 

  • Karagas MR, Greenberg ER, Spencer SK, Stukel TA, Mott LA (1999) Increase in incidence rates of basal cell and squamous cell skin cancer in New Hampshire, USA. New Hampshire Skin Cancer Study Group. Int J Cancer 81:555–559

    Article  CAS  PubMed  Google Scholar 

  • Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, Digiovanna JJ, Bale AE, Bale SJ (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69:299–308

    Article  CAS  PubMed  Google Scholar 

  • Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B (2004) Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 6:495–502

    Article  PubMed  Google Scholar 

  • Kraemer KH, DiGiovanna JJ (1993) Xeroderma pigmentosum. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) GeneReviews(R), Seattle (WA)

    Google Scholar 

  • Leonard JM, Ye H, Wetmore C, Karnitz LM (2008) Sonic Hedgehog signaling impairs ionizing radiation-induced checkpoint activation and induces genomic instability. J Cell Biol 183:385–391

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lewis RA (1993) Oculocutaneous albinism type 2. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (eds) GeneReviews(R). Seattle (WA)

    Google Scholar 

  • Lichter MD, Karagas MR, Mott LA, Spencer SK, Stukel TA, Greenberg ER (2000) Therapeutic ionizing radiation and the incidence of basal cell carcinoma and squamous cell carcinoma. The New Hampshire Skin Cancer Study Group. Arch Dermatol 136:1007–1011

    Article  CAS  PubMed  Google Scholar 

  • Lindstrom E, Shimokawa T, Toftgard R, Zaphiropoulos PG (2006) PTCH mutations: distribution and analyses. Hum Mutat 27:215–219

    Article  CAS  PubMed  Google Scholar 

  • Lo Muzio L (2008) Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 3:32

    Article  PubMed  PubMed Central  Google Scholar 

  • Loncaster J, Swindell R, Slevin F, Sheridan L, Allan D, Allan E (2009) Efficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomas. Clin Oncol (R Coll Radiol) 21:502–508

    Article  CAS  Google Scholar 

  • Luande J, Henschke CI, Mohammed N (1985) The Tanzanian human albino skin. Natural history. Cancer 55:1823–1828

    CAS  PubMed  Google Scholar 

  • Manjima S, Naik Z, Keluskar V, Bagewadi A (2015) Multiple jaw cysts-unveiling the Gorlin-Goltz syndrome. Contemp Clin Dent 6:S102–S105

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Mathias SD, Chren MM, Colwell HH, Yim YM, Reyes C, Chen DM, Fosko SW (2014) Assessing health-related quality of life for advanced basal cell carcinoma and basal cell carcinoma nevus syndrome: development of the first disease-specific patient-reported outcome questionnaires. JAMA Dermatol 150:169–176

    Article  PubMed  Google Scholar 

  • Micali G, de Pasquale R, Caltabiano R, Impallomeni R, Lacarrubba F (2002) Topical imiquimod treatment of superficial and nodular basal cell carcinomas in patients affected by basal cell nevus syndrome: a preliminary report. J Dermatolog Treat 13:123–127

    Article  CAS  PubMed  Google Scholar 

  • Michaelsson G, Olsson E, Westermark P (1981) The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. Acta Derm Venereol 61:497–503

    CAS  PubMed  Google Scholar 

  • Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L (2012) Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet A 158A:391–399

    Article  PubMed  Google Scholar 

  • Pan S, Dong Q, Sun LS, Li TJ (2010) Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis. Clin Cancer Res 16:442–450

    Article  CAS  PubMed  Google Scholar 

  • Parren LJ, Frank J (2011) Hereditary tumour syndromes featuring basal cell carcinomas. Br J Dermatol 165:30–34

    Article  CAS  PubMed  Google Scholar 

  • Pastorino L, Pollio A, Pellacani G, Guarneri C, Ghiorzo P, Longo C, Bruno W, Giusti F, Bassoli S, Bianchi-Scarra G, Ruini C, Seidenari S, Tomasi A, Ponti G (2012) Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. PLoS ONE 7:e43827

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Poblete Gutierrez P, Eggermann T, Holler D, Jugert FK, Beermann T, Grussendorf-Conen EI, Zerres K, Merk HF, Frank J (2002) Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. J Invest Dermatol 119:527–531

    Google Scholar 

  • Pricl S, Cortelazzi B, Dal Col V, Marson D, Laurini E, Fermeglia M, Licitra L, Pilotti S, Bossi P, Perrone F (2015) Smoothened (SMO) receptor mutations dictate resistance to vismodegib in basal cell carcinoma. Mol Oncol 9:389–397

    Google Scholar 

  • Ragge NK, Salt A, Collin JR, Michalski A, Farndon PA (2005) Gorlin syndrome: the PTCH gene links ocular developmental defects and tumour formation. Br J Ophthalmol 89:988–991

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Ramsay HM, Fryer AA, Hawley CM, Smith AG, Nicol DL, Harden PN (2003) Factors associated with nonmelanoma skin cancer following renal transplantation in Queensland, Australia. J Am Acad Dermatol 49:397–406

    Article  PubMed  Google Scholar 

  • Ratcliffe JF, Shanley S, Ferguson J, Chenevix-Trench G (1995) The diagnostic implication of falcine calcification on plain skull radiographs of patients with basal cell naevus syndrome and the incidence of falcine calcification in their relatives and two control groups. Br J Radiol 68:361–368

    Article  CAS  PubMed  Google Scholar 

  • Reifenberger J, Wolter M, Knobbe CB, Kohler B, Schonicke A, Scharwachter C, Kumar K, Blaschke B, Ruzicka T, Reifenberger G (2005) Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 152:43–51

    Article  CAS  PubMed  Google Scholar 

  • Richmond-Sinclair NM, Pandeya N, Ware RS, Neale RE, Williams GM, van der Pols JC, Green AC (2009) Incidence of basal cell carcinoma multiplicity and detailed anatomic distribution: longitudinal study of an Australian population. J Invest Dermatol 129:323–328

    Article  CAS  PubMed  Google Scholar 

  • Rubin AI, Chen EH, Ratner D (2005) Basal-cell carcinoma. N Engl J Med 353:2262–2269

    Article  CAS  PubMed  Google Scholar 

  • Rudin CM, Hann CL, Laterra J, Yauch RL, Callahan CA, Fu L, Holcomb T, Stinson J, Gould SE, Coleman B, Lorusso PM, von Hoff DD, de Sauvage FJ, Low JA (2009) Treatment of medulloblastoma with hedgehog pathway inhibitor GDC-0449. N Engl J Med 361:1173–1178

    Article  CAS  PubMed  Google Scholar 

  • Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50:282–290

    Article  CAS  PubMed  Google Scholar 

  • Shear M (2002) The aggressive nature of the odontogenic keratocyst: is it a benign cystic neoplasm? Part 1. Clinical and early experimental evidence of aggressive behaviour. Oral Oncol 38:219–226

    Article  PubMed  Google Scholar 

  • Smith MJ, Beetz C, Williams SG, Bhaskar SS, O’Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG (2014) Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol 32:4155–4161

    Article  CAS  PubMed  Google Scholar 

  • Smyth I, Narang MA, Evans T, Heimann C, Nakamura Y, Chenevix-Trench G, Pietsch T, Wicking C, Wainwright BJ (1999) Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32. Hum Mol Genet 8:291–297

    Article  CAS  PubMed  Google Scholar 

  • Soto-Pena GA, Vega L (2008) Arsenic interferes with the signaling transduction pathway of T cell receptor activation by increasing basal and induced phosphorylation of Lck and Fyn in spleen cells. Toxicol Appl Pharmacol 230:216–226

    Article  CAS  PubMed  Google Scholar 

  • Stacey SN, Sulem P, Gudbjartsson DF, Jonasdottir A, Thorleifsson G, Gudjonsson SA, Masson G, Gudmundsson J, Sigurgeirsson B, Benediktsdottir KR, Thorisdottir K, Ragnarsson R, Fuentelsaz V, Corredera C, Grasa M, Planelles D, Sanmartin O, Rudnai P, Gurzau E, Koppova K, Hemminki K, Nexo BA, Tjonneland A, Overvad K, Johannsdottir H, Helgadottir HT, Thorsteinsdottir U, Kong A, Vogel U, Kumar R, Nagore E, Mayordomo JI, Rafnar T, Olafsson JH, Stefansson K (2014) Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. Hum Mol Genet 23:3045–3053

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Staples MP, Elwood M, Burton RC, Williams JL, Marks R, Giles GG (2006) Non-melanoma skin cancer in Australia: the 2002 national survey and trends since 1985. Med J Aust 184:6–10

    PubMed  Google Scholar 

  • Stockfleth E, Ulrich C, Hauschild A, Lischner S, Meyer T, Christophers E (2002) Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5 % imiquimod. Eur J Dermatol 12:569–572

    PubMed  Google Scholar 

  • Surdu S, Fitzgerald EF, Bloom MS, Boscoe FP, Carpenter DO, Haase RF, Gurzau E, Rudnai P, Koppova K, Vahter M, Leonardi G, Goessler W, Kumar R, Fletcher T (2014) Polymorphisms in DNA repair genes XRCC1 and XRCC3, occupational exposure to arsenic and sunlight, and the risk of non-melanoma skin cancer in a European case-control study. Environ Res 134:382–389

    Article  CAS  PubMed  Google Scholar 

  • Tang JY, Chiou AS, Mackay-Wiggan JM, Aszterbaum M, Chanana AM, Lee W, Lindgren JA, Raphael MA, Thompson BJ, Bickers DR, Epstein EH Jr (2014) Tazarotene: randomized, double-blind, vehicle-controlled, and open-label concurrent trials for basal cell carcinoma prevention and therapy in patients with basal cell nevus syndrome. Cancer Prev Res (Phila) 7:292–299

    Article  CAS  Google Scholar 

  • Wade TR, Ackerman AB (1978) The many faces of basal-cell carcinoma. J Dermatol Surg Oncol 4:23–28

    Article  CAS  PubMed  Google Scholar 

  • Wadt KA, Aoude LG, Johansson P, Solinas A, Pritchard A, Crainic O, Andersen MT, Kiilgaard JF, Heegaard S, Sunde L, Federspiel B, Madore J, Thompson JF, Mccarthy SW, Goodwin A, Tsao H, Jonsson G, Busam K, Gupta R, Trent JM, Gerdes AM, Brown KM, Scolyer RA, Hayward NK (2014) A recurrent germline BAP1 mutation and extension of the BAP1 tumor predisposition spectrum to include basal cell carcinoma. Clin Genet

    Google Scholar 

  • Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G (1997) De novo mutations of the Patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet 73:304–307

    Article  CAS  PubMed  Google Scholar 

  • Youssef KK, Lapouge G, Bouvree K, Rorive S, Brohee S, Appelstein O, Larsimont JC, Sukumaran V, van de Sande B, Pucci D, Dekoninck S, Berthe JV, Aerts S, Salmon I, del Marmol V, Blanpain C (2012) Adult interfollicular tumour-initiating cells are reprogrammed into an embryonic hair follicle progenitor-like fate during basal cell carcinoma initiation. Nat Cell Biol 14:1282–1294

    Article  CAS  PubMed  Google Scholar 

  • Zibat A, Uhmann A, Nitzki F, Wijgerde M, Frommhold A, Heller T, Armstrong V, Wojnowski L, Quintanilla-Martinez L, Reifenberger J, Schulz-Schaeffer W, Hahn H (2009) Time-point and dosage of gene inactivation determine the tumor spectrum in conditional Ptch knockouts. Carcinogenesis 30:918–926

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We would like to thank the patient who so kindly permitted the use of her clinical photographs and medical photographer Mr Charles Frewen (Medical Visuals P/L) for their production.

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Authors and Affiliations

  1. Familial Cancer Clinic, Peter MacCallum Cancer Centre, Melbourne, Australia

    Susan Shanley

  2. Dermatology Unit, Department of Surgical Oncology, Peter MacCallum Cancer Centre, Melbourne, Australia

    Christopher McCormack

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  1. Susan Shanley
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Correspondence to Susan Shanley .

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Editors and Affiliations

  1. London Bridge Hospital, London, United Kingdom

    Gabriella Pichert

  2. University College London, Guy’s & St Thomas’ NHS Foundation Trust, London, United Kingdom

    Chris Jacobs

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Shanley, S., McCormack, C. (2016). Diagnosis and Management of Hereditary Basal Cell Skin Cancer. In: Pichert, G., Jacobs, C. (eds) Rare Hereditary Cancers. Recent Results in Cancer Research, vol 205. Springer, Cham. https://doi.org/10.1007/978-3-319-29998-3_11

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