Nevoid Basal Cell Carcinoma Syndrome
What's New
Last Posted: Mar 05, 2023
- Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.
Sim Yookyeong Carolyn, et al. The Journal of craniofacial surgery 2018 0 (3) e252-e255 - Nevoid Basal Cell Carcinoma Syndrome: PTCH1 Mutation Profile and Expression of Genes Involved in the Hedgehog Pathway in Argentinian Patients.
Martinez Maria Florencia, et al. Cells 2019 0 (2) - Absence of BRAFV600E immunohistochemical expression in sporadic odontogenic keratocyst, syndromic odontogenic keratocyst and orthokeratinized odontogenic cyst.
Jain Kejal S, et al. Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology 2020 0 (10) 1061-1067 - PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).
Ponti Giovanni, et al. Anticancer research 2017 0 (1) 471-476 - Mechanisms of inactivation of PTCH1 gene in nevoid basal cell carcinoma syndrome: modification of the two-hit hypothesis.
Pan Shuang, et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2010 0 (2) 442-50 - Contributions of PTCH gene variants to isolated cleft lip and palate.
Mansilla M A, et al. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2006 0 (1) 21-9 - Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.
Yang Xin-Hua, et al. Gene 2022 0 146157 - Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.
Kim Boram, et al. Scientific reports 2021 1 (1) 1163 - CLINGEN Actionability Report for Basal Cell Nevus Syndrome (BCNS) - PTCH1
ClinGen Actionability Working Group - Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.
Matsudate Yoshihiro et al. Journal of dermatological science 2017 Jun 86(3) 206-211
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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