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Article

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

Cancer biomarkers : section A of Disease markers - 12 Dec 2017

Lu Nanhang, Wang Jinzeng, Zhu Bijun, Zhang Miaomiao, Qi Fazhi, Wang Xiangdong, Gu Jianying

Abstract excerpt

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease with a complex genetic etiology. Although three causative genes (PTCH1, PTCH2, SUFU) have been identified through linkage analysis and Sanger sequencing, the genetic background of NBCCS hasn't been fully understood. METHODS: We performed a whole-exome sequencing (WES) in a Han Chinese NBCCS family and two unaffected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29081410
DOI: 10.3233/CBM-170541
PMCID: PMC13075735

Genes

ZFHX4
PTCH1
PTCH2
SUFU
AMPD1
AP5Z1
ASPM
COX15
GBP3
GPRC5A
HSPA1L
KIF24
PNPLA1
RBM46
RHBDF1
RPUSD1
UGGT2
UNC5C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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