Basal cell naevus syndrome: an update on genetics and treatment

John, Ann M; Schwartz, Robert A.

doi:10.1111/bjd.14206

Cited by 58 publications

(82 citation statements)

References 65 publications

(124 reference statements)

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“…Radiologic screening for medulloblastomas (in patients younger than 8 years) and KOTs is typically performed annually [23,31]. Therapeutic options for BCCs depend on the histologic subtype, size, and location of the tumor.…”

Section: Screening and Treatmentmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Bresler

Padwa

Granter

2016

Head and Neck Pathol

121

108

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Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

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Section: Screening and Treatmentmentioning

confidence: 99%

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Bresler

Padwa

Granter

2016

Head and Neck Pathol

121

108

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“…Basal cell naevus syndrome (BCNS, MIM #109400), also known as Gorlin syndrome, is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts and cerebral calcifications . The incidence of BCNS is estimated at 1 in 50 000–256 000 .…”

Section: Diagnostic Criteria For Basal Cell Naevus Syndrome (Bcns) Tmentioning

confidence: 99%

Postzygotic mosaicism in basal cell naevus syndrome

et al. 2017

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Basal cell naevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the Drosophila homologue of patched-1 gene (PTCH1). Here we describe a patient with clinical signs of BCNS, caused by postzygotic mosaicism of a PTCH1 mutation. We performed restriction fragment length polymorphism analysis and Droplet Digital polymerase chain reaction to determine the degree of mosaicism in different tissues of this patient. Our case shows that a relatively low-grade mosaicism can lead to clinical signs reminiscent of those caused by a germline mutation. This finding has important implications for genetic counselling and therefore is pivotal to recognize for dermatologists, as well as for clinical geneticists and clinical laboratory geneticists.

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“…Basal cell nevus syndrome (BCNS, MIM#109400) or Gorlin syndrome is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications (John & Schwartz, ). The incidence of BCNS is estimated at 1 in 50,000 to 256,000 (Lo Muzio, ).…”

Section: Introductionmentioning

confidence: 99%

New mutations and an updated database for the patched‐1 (PTCH1) gene

Reinders

Hout

Cosgun

et al. 2018

Molec Gen & Gen Med

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BackgroundBasal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched‐1 (PTCH1) gene. PTCH1 mutations are also described in patients with holoprosencephaly.MethodsWe have established a locus‐specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). We included 117 new PTCH1 variations, in addition to 331 previously published unique PTCH1 mutations. These new mutations were found in 141 patients who had a positive PTCH1 mutation analysis in either the VU University Medical Centre (VUMC) or Maastricht University Medical Centre (MUMC) between 1995 and 2015.ResultsThe database contains 331 previously published unique PTCH1 mutations and 117 new PTCH1 variations.ConclusionWe have established a locus‐specific database for the PTCH1 gene using the Leiden Open Variation Database (LOVD). The database provides an open collection for both clinicians and researchers and is accessible online at http://www.lovd.nl/PTCH1.

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Basal cell naevus syndrome: an update on genetics and treatment

Cited by 58 publications

References 65 publications

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Postzygotic mosaicism in basal cell naevus syndrome

New mutations and an updated database for the patched‐1 (PTCH1) gene

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