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Article

Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations.

Human molecular genetics - 1 Dec 1999

Sévenet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O

Abstract excerpt

The hSNF5/INI1 gene which encodes a member of the SWI/SNF chromatin ATP-dependent remodeling complex, is a new tumor suppressor gene localized on chromosome 22q11.2 and recently shown to be mutated in malignant rhabdoid tumors. We have searched for hSNF5/INI1 mutations in 229 tumors of various origins using a screening method based on denaturing high-performance liquid chromatography. A total of 31 homozygous...

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Share to Chromatography, High Pressure Liquid
Share to Chromosomal Proteins, Non-Histone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 22

Share to DNA, Neoplasm

Share to Loss of Heterozygosity

Share to Point Mutation

Share to Rhabdoid Tumor

Share to SMARCB1 Protein

Source

Identifiers

PMID: 10556283
DOI: 10.1093/hmg/8.13.2359

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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