Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.

Scientific reports - 13 Jan 2021

Kim Boram, Kim Man Jin, Hur Keunyoung, Jo Seong Jin, Ko Jung Min, Park Sung Sup, Seong Moon-Woo, Mun Je-Ho

Abstract excerpt

Nevoid basal cell carcinoma syndrome (NBCCS) is mainly characterised by multiple basal cell carcinomas (BCCs) caused by PTCH1, PTCH2, and SUFU. However, clinical and genetic data on Asian NBCCS patients are limited. We aimed to analyse the clinical phenotypes and genetic spectrum of Korean patients with NBCCS. Fifteen patients with NBCCS at Seoul National University Hospital were included, and their clinical data...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Basal Cell Nevus Syndrome
Share to Carcinoma, Basal Cell

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Profile

Share to Patched-1 Receptor

Share to Republic of Korea

Share to Skin Neoplasms

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33441926
DOI: 10.1038/s41598-020-80867-0
PMCID: PMC7806620

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing.PMID 33441926Read ↗

Whole-exome sequencing to identify novel mutations of nevoid basal cell carcinoma syndrome in a Chinese population.Semantic proximity Read ↗

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.Semantic proximity Read ↗

Whole‐exome sequencing of nevoid basal cell carcinoma syndrome families and review of Human Gene Mutation Database PTCH1 mutation dataSemantic proximity Read ↗

Molecular profiling of basal cell carcinomas in young patients.Semantic proximity Read ↗

Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome.Semantic proximity Read ↗

Mutational landscape of basal cell carcinomas by whole-exome sequencing.Semantic proximity Read ↗

Investigation of Genetic Mutations in High-risk and Low-risk Basal Cell Carcinoma in a Non-Caucasian Population by Whole Exome Sequencing.Semantic proximity Read ↗

Nevoid basal cell carcinoma syndrome caused by splicing mutations in the PTCH1 gene.Semantic proximity Read ↗

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.Semantic proximity Read ↗

5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation.Semantic proximity Read ↗

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.Semantic proximity Read ↗

Basal cell carcinoma of the skin (part 1): epidemiology, pathology and genetic syndromes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.