Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

Jones, Elizabeth A.; Sajid, Mohammed Imran; Shenton, Andrew; Evans, D. Gareth

doi:10.1155/2011/217378

Cited by 109 publications

(152 citation statements)

References 18 publications

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“…The causative mutations have been found to be in the sonic hedgehog pathway, including PTCH1 [22,23], PTCH2 [24], and SUFU [25], with PTCH1 mutation being found in 60-75 % of NBCCS patients [6,26]. Although it is a genetic disease, about 35-50 % of affected patients represent new mutations [5].…”

Section: Discussionmentioning

confidence: 99%

Multiple Orthokeratinized Odontogenic Cysts: A Case Report

Cheng

Liang

Wright

et al. 2014

Head and Neck Pathol

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Section: Discussionmentioning

confidence: 99%

Multiple Orthokeratinized Odontogenic Cysts: A Case Report

Cheng

Liang

Wright

et al. 2014

Head and Neck Pathol

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“…2,3 Distinguishing facial features associated with the syndrome include milia, macrocephaly, bossing of the forehead, coarse facial features and hypertelorism. [2][3][4] Palmar and plantar pits and calcification of the falx cerebri are common characteristic findings. [2][3][4] Other significant complications include childhood medulloblastoma, ovarian and cardiac fibromas, 2 ocular anomalies, and cleft lip and palate.…”

Section: Introductionmentioning

confidence: 99%

“…[2][3][4] Palmar and plantar pits and calcification of the falx cerebri are common characteristic findings. [2][3][4] Other significant complications include childhood medulloblastoma, ovarian and cardiac fibromas, 2 ocular anomalies, and cleft lip and palate. 4 One of the main defining features of Gorlin syndrome is the early onset of multiple BCCs, 4 with a median age of onset of 25 years.…”

Section: Introductionmentioning

confidence: 99%

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

et al. 2014

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Gorlin syndrome is an autosomal dominant disorder, characterized by multiple early-onset basal cell carcinomas (BCCs) and jaw keratocysts. Through association studies in cohorts of sporadic BCC, nine genetic variants have previously been identified to increase the risk of BCC. The nine SNPs were genotyped by Taqman allelic discrimination in 125 individuals with Gorlin syndrome. Kaplan-Meier survival curves and Cox proportional-Hazard regression analysis were applied to determine the association between genotypes and age of first BCC in individuals with Gorlin syndrome. The p.(Arg151Cys) variant in MC1R (rs1805007) was associated with an earlier median age of onset of BCC of 27 years (95% CI: 20-34) compared with 34 years (95% CI: 30-40) for wild-type individuals (hazard ratio (HR) ¼ 1.64, 95% CI: 1.04-2.58, P ¼ 0.034). The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 28-37) compared with 41 years (95% CI: 32-48, HR ¼ 1.44, 95% CI: 1.08-1.93, P ¼ 0.014). In individuals with a risk allele at either rs1805007 or rs401681 the median time to BCC was 31 years of age (95% CI: 28-34) compared with 44 years of age (95% CI: 38-53) in wild-type individuals (HR ¼ 2.48, 95% CI: 1.47-4.17, P ¼ 0.0002). Our findings may have implications for future personalized risk estimates and BCC screening strategies in individuals with Gorlin syndrome.

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“…Exonic, multiexonic, and whole-gene deletions have been reported in about 6% of individuals with NBCCS [Evans and Farndon, 2002]. The studies of disease prevalence come from the UK population, where it is nearer to 1:30,827 [Evans et al, 2010]; The actual figure could be higher still, since less severe cases may not be diagnosed and Jones et al [2011] recently reported an incidence of 1 in 19,000 births.…”

Section: Introductionmentioning

confidence: 99%

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

Garavelli¹,

Piemontese

Cavazza

et al. 2013

American J of Med Genetics Pt A

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Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant condition mainly characterized by the development of mandibular keratocysts which often have their onset during the second decade of life and/or multiple basal cell carcinoma (BCC) normally arising during the third decade. Cardiac and ovarian fibromas can be found. Patients with NBCCS develop the childhood brain malignancy medulloblastoma (now often called primitive neuro-ectodermal tumor [PNET]) in 5% of cases. The risk of other malignant neoplasms is not clearly increased, although lymphoma and meningioma can occur in this condition. Wilms tumor has been mentioned in the literature four times. We describe a patient with a 10.9 Mb 9q22.3 deletion spanning 9q22.2 through 9q31.1 that includes the entire codifying sequence of the gene PTCH1, with Wilms tumor, multiple neoplasms (lung, liver, mesenteric, gastric and renal leiomyomas, lung typical carcinoid tumor, adenomatoid tumor of the pleura) and a severe clinical presentation. We propose including leiomyomas among minor criteria of the NBCCS. 2894 INTRODUCTIONGorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS) also known as basal cell nevus syndrome (BCNS, OMIM #109400) is an autosomal dominant condition due to haploinsufficiency of PTCH1 and mainly characterized by the development of mandibular keratocysts which often have their onset during adolescence and/or multiple basal cell carcinomas normally arising after age 20 [Hahn et al., 1996;Evans and Farndon, 2002;Gorlin, 2004;Muzio et al., 2013]. Exonic, multiexonic, and whole-gene deletions have been reported in about 6% of individuals with NBCCS [Evans and Farndon, 2002]. The studies of disease prevalence come from the UK population, where it is nearer to 1:30,827 [Evans et al., 2010]; The actual figure could be higher still, since less severe cases may not be diagnosed and Jones et al. [2011] recently reported an incidence of 1 in 19,000 births.NBCCS is clinically diagnosed in patients with one major diagnostic criterion and molecular confirmation or two major criteria or one major and two minor diagnostic criteria [Bree et al., 2011]. The major criteria are the following: (1) BCC before the age of 20 or excessive numbers of BBCs out of proportion to prior sun exposure and skin type, (2) odontogenic jaw keratocyst prior to 20 years of age, (3) palmar or plantar pitting, (4) lamellar calcification of the falx cerebri, (5) medulloblastoma typically desmoplastic, and (6) first-degree relative with NBCCS. The minor criteria are the following: (1) rib anomalies, (2) other specific skeletal malformations and radiologic changes (i.e., vertebral anomalies, kyphoscoliosis, short fourth metacarpals, postaxial polydactyly), (3) macrocephaly, (4) cleft lip/palate, (5) ovarian/ cardiac fibromas, (6) lymphomesenteric cysts, and (7) ocular anomalies including the following: strabismus, hypertelorism, congenital cataract, glaucoma, coloboma.The typical facial phenotype includes macrocephaly, frontal bossing, coarse face ...

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Basal Cell Carcinomas in Gorlin Syndrome: A Review of 202 Patients

Cited by 109 publications

References 18 publications

Multiple Orthokeratinized Odontogenic Cysts: A Case Report

Multiple Orthokeratinized Odontogenic Cysts: A Case Report

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome

Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC‐C loci

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