Development of a targeted gene panel for the diagnosis of Gorlin syndrome

Nakamura, Yuriko; Onodera, Shin; Takano, Masayuki; Katakura, Akira; Nomura, Takeshi; Azuma, Toshifumi

doi:10.1016/j.ijom.2022.03.054

Cited by 5 publications

(5 citation statements)

References 35 publications

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“…Only one case, reported by Rohan et al [28], reported a case of morBCC in a non-sun-exposed area, specifically, the hemiscrotum. However, this cancer arose in a patient known for nevoid basal cell carcinoma syndrome, which is an autosomaldominant inherited disorder in which patients develop multiple BCCs earlier than the general population due to a variety of mutations in the Sonic hedgehog pathway, namely, in the genes PTCH1, SMO, PTCH2, and SUFU [75][76][77].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Molecular Features of Morpheaform Basal Cell Carcinoma: A Systematic Review

Conte,

Ghezelbash,

Nallanathan

et al. 2023

Current Oncology

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Basal cell carcinoma (BCC) is the most common skin cancer, with a lifetime risk currently approaching up to 40% in Caucasians. Among these, some clinical and pathological BCC variants pose a higher risk due to their more aggressive biological behavior. Morpheaform BCC (morBCC), also known as sclerosing, fibrosing, or morpheic BCC, represents up to 5–10% of all BCC. Overall, morBCC carries a poorer prognosis due to late presentation, local tissue destruction, tumor recurrence, and higher frequency of metastasis. In this systematic review, we review the epidemiological, clinical, morphological, dermatoscopical, and molecular features of morBCC. After the title and abstract screening of 222 studies and the full-text review of 84 studies, a total of 54 studies met the inclusion criteria and were thus included in this review.

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Section: Discussionmentioning

confidence: 99%

Clinical and Molecular Features of Morpheaform Basal Cell Carcinoma: A Systematic Review

Conte,

Ghezelbash,

Nallanathan

et al. 2023

Current Oncology

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“…The gene panel analyzed the PTCH1 , PTCH2 , SUFU , and SMO genes, all of which are associated with Gorlin syndrome. They reported the presence of simultaneous mutations in PTCH1 and PTCH2 in patients with Gorlin syndrome [ 64 ].…”

Section: Next-generation Sequencingmentioning

confidence: 99%

Current Status of Next-Generation Sequencing in Bone Genetic Diseases

Aida,

Saito,

Azuma

2023

IJMS

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The development of next-generation sequencing (NGS) has dramatically increased the speed and volume of genetic analysis. Furthermore, the range of applications of NGS is rapidly expanding to include genome, epigenome (such as DNA methylation), metagenome, and transcriptome analyses (such as RNA sequencing and single-cell RNA sequencing). NGS enables genetic research by offering various sequencing methods as well as combinations of methods. Bone tissue is the most important unit supporting the body and is a reservoir of calcium and phosphate ions, which are important for physical activity. Many genetic diseases affect bone tissues, possibly because metabolic mechanisms in bone tissue are complex. For instance, the presence of specialized immune cells called osteoclasts in the bone tissue, which absorb bone tissue and interact with osteoblasts in complex ways to support normal vital functions. Moreover, the many cell types in bones exhibit cell-specific proteins for their respective activities. Mutations in the genes encoding these proteins cause a variety of genetic disorders. The relationship between age-related bone tissue fragility (also called frailty) and genetic factors has recently attracted attention. Herein, we discuss the use of genomic, epigenomic, transcriptomic, and metagenomic analyses in bone genetic disorders.

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“…Casano et al found variant c.3347C>T (p.Pro1116Leu) in exon 21 of PTCH2 in the proband, and the patient, who did not meet Kimonis’ criteria, had several minor diagnostic features of GS, including macrocephaly, a wide face, and palmar pits [ 54 ]. We also reported that several patients with GS have PTCH2 mutations and PTCH1 gene mutations [ 55 , 56 ]. Mutations in the PTCH2 gene alone have rarely been reported to be causative genes for GS; however, we found overlapping mutations in the PTCH1 and PTCH2 genes.…”

Section: Genetic Aspects Of Gorlin Syndromementioning

confidence: 99%

“…Morita et al established a custom Haloplex panel containing genes involved in the Hh-related pathways PTCH1, PTCH2, SHH, SUFU, SMO, GLI1, GLI2, and GLI3 in the GS [ 148 ]. Nakamura Y et al constructed a more compact genetic panel which comprised PTCH1, PTCH2, SUFU, and SMO for NGS [ 56 ]. Using this panel, we confirmed that one of the blood relatives who did not appear to have a diagnostic phenotype had the same PTCH1 mutation as that found in a patient with GS.…”

Section: Genetic Analysismentioning

confidence: 99%

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations

Onodera,

Azuma

2023

IJMS

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The hedgehog (Hh) family consists of numerous signaling mediators that play important roles at various stages of development. Thus, the Hh pathway is essential for bone tissue development and tumorigenesis. Gorlin syndrome is a skeletal and tumorigenic disorder caused by gain-of-function mutations in Hh signaling. In this review, we first present the phenotype of Gorlin syndrome and the relationship between genotype and phenotype in bone and craniofacial tissues, including the causative gene as well as other Hh-related genes. Next, the importance of new diagnostic methods using next-generation sequencing and multiple gene panels will be discussed. We summarize Hh-related genetic disorders, including cilia disease, and the genetics of Hh-related bone diseases.

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Development of a targeted gene panel for the diagnosis of Gorlin syndrome

Cited by 5 publications

References 35 publications

Clinical and Molecular Features of Morpheaform Basal Cell Carcinoma: A Systematic Review

Clinical and Molecular Features of Morpheaform Basal Cell Carcinoma: A Systematic Review

Current Status of Next-Generation Sequencing in Bone Genetic Diseases

Hedgehog-Related Mutation Causes Bone Malformations with or without Hereditary Gene Mutations

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