Familial skin cancer syndromes

Jaju, Prajakta D.; Ransohoff, Katherine J.; Tang, Jean Y.; Sarin, Kavita Y.

doi:10.1016/j.jaad.2015.08.073

Cited by 48 publications

(12 citation statements)

References 83 publications

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“…In suspected NBCCS, there is also a need to discuss potential genetic testing looking for mutations in the PTCH1 gene. NBCCS families have a small increased risk of other rare cancers so it is important that the family is aware of this, as any unusual symptoms in the future, need to be taken seriously with earlier detection of cancers [142]. NBCCS patients are also at increased risk of vitamin D deficiency and supplementation may be necessary [143].…”

Section: Information For Patientsmentioning

confidence: 99%

Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelines

Peris

Fargnoli

Garbe³

et al. 2019

European Journal of Cancer

436

574

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Terms of useThis work is brought to you by the University of Southern Denmark through the SDU Research Portal. Unless otherwise specified it has been shared according to the terms for self-archiving. If no other license is stated, these terms apply:• You may download this work for personal use only. • You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying this open access version DIAGNOSIS AND TREATMENT OF BASAL CELL CARCINOMA: EUROPEAN CONSENSUS-BASED INTERDISCIPLINARY GUIDELINES On behalf of the European Dermatology Forum (EDF), the European Association of Dermato-Oncology (EADO) and the European Organization for Research and Treatment of Cancer (EORTC)

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Section: Information For Patientsmentioning

confidence: 99%

Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelines

Peris

Fargnoli

Garbe³

et al. 2019

European Journal of Cancer

436

574

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“…Regarding BCC genetic risk factors, it is well known that certain hereditary disorders predispose to an early onset of BCCs [ 5 , 6 , 7 ]. The Gorlin syndrome (GS), also known as basal cell nevus syndrome, is one of the most common autosomal dominant genodermatoses that is characterized by multiple BCCs development, with a disease incidence ranging from 1:56,000 to 1:164,000 among the general population [ 5 ].…”

Section: Bcc Risk Factors: Genetics and Phenotypesmentioning

confidence: 99%

Basal Cell Carcinoma: A Comprehensive Review

Dika

Scarfì

Ferracin

et al. 2020

IJMS

118

107

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Basal cell carcinoma (BCC) is the most common type of carcinoma worldwide. BCC development is the result of a complex interaction between environmental, phenotypic and genetic factors. However, despite the progress in the field, BCC biology and mechanisms of resistance against systemic treatments have been poorly investigated. The aim of the present review is to provide a revision of BCC histological and molecular features, including microRNA (miRNA) dysregulation, with a specific focus on the molecular basis of BCC systemic therapies. Papers from the last ten years regarding BCC genetic and phenotypic alterations, as well as the mechanism of resistance against hedgehog pathway inhibitors vismodegib and sonidegib were included. The involvement of miRNAs in BCC resistance to systemic therapies is emerging as a new field of knowledge.

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“…BCC is a complex malignancy that can appear spontaneously or be due to predisposing genetic syndromes, like Gorlin-Goltz or Xeroderma Pigmentosum. Independently from its origin, in most cases, Hedgehog (Hh) signalling pathway is altered 3,4 and P53 is mutated in the 50% of human BCCs 5 . In addition, mutations on genes involved in the Hh pathway have been described in sporadic BCCs or in those induced by carcinogens, such as ultraviolet (UV) irradiation.…”

Section: Introductionmentioning

confidence: 99%

Characterisation of resistance mechanisms developed by basal cell carcinoma cells in response to repeated cycles of Photodynamic Therapy

Lucena

Zamarrón

Carrasco

et al. 2019

Sci Rep

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Photodynamic Therapy (PDT) with methyl-aminolevulinate acid (MAL-PDT) is being used for the treatment of Basal cell carcinoma (BCC), but recurrences have been reported. In this work, we have evaluated resistance mechanisms to MAL-PDT developed by three BCC cell lines (ASZ, BSZ and CSZ), derived from mice on a ptch+/− background and with or without p53 expression, subjected to 10 cycles of PDT (10thG). The resistant populations showed mesenchymal-like structure and diminished proliferative capacity and size compared to the parental (P) cells. The resistance was dependent on the production of the endogenous photosensitiser protoporphyrin IX in the CSZ cell line and on its cellular localisation in ASZ and BSZ cells. Moreover, resistant cells expressing the p53 gene presented lower proliferation rate and increased expression levels of N-cadherin and Gsk3β (a component of the Wnt/β-catenin pathway) than P cells. In contrast, 10thG cells lacking the p53 gene showed lower levels of expression of Gsk3β in the cytoplasm and of E-cadherin and β-catenin in the membrane. In addition, resistant cells presented higher tumorigenic ability in immunosuppressed mice. Altogether, these results shed light on resistance mechanisms of BCC to PDT and may help to improve the use of this therapeutic approach.

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Familial skin cancer syndromes

Cited by 48 publications

References 83 publications

Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelines

Diagnosis and treatment of basal cell carcinoma: European consensus–based interdisciplinary guidelines

Basal Cell Carcinoma: A Comprehensive Review

Characterisation of resistance mechanisms developed by basal cell carcinoma cells in response to repeated cycles of Photodynamic Therapy

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