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

The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.

Familial cancer - 1 Jan 2005

Siddiqui Rina, Onel Kenan, Facio Flavia, Nafa Kedoudja, Diaz Louis Robles, Kauff Noah, Huang Helen, Robson Mark, Ellis Nathan, Offit Kenneth

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a dominantly inherited cancer predisposition syndrome characterized by a wide spectrum of neoplasms occurring at young age. Germline mutations in the TP53 tumor suppressor gene have been identified in approximately 71 of LFS patients and 22 of Li-Fraumeni-like (LFL) patients. Mutations within the cell cycle checkpoint gene CHEK2 have also been reported in some patients with LFS, LFL,...

Read the complete abstract on PubMed

Topics

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

Share to Checkpoint Kinase 2
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genes, p53

Share to Germ-Line Mutation

Share to Li-Fraumeni Syndrome

Share to Pedigree

Share to Protein Serine-Threonine Kinases

Source

Identifiers

PMID: 15951970
DOI: 10.1007/s10689-004-1946-5

Genes

CHEK2

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

The TP53 mutational spectrum and frequency of CHEK2*1100delC in Li-Fraumeni-like kindreds.PMID 15951970Read ↗

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotypeSemantic proximity Read ↗

Li-Fraumeni SyndromeSemantic proximity Read ↗

Genotype-Phenotype Correlations of Li-Fraumeni Syndrome in Japan Children's Cancer Group LFS20 Study Cohort.Semantic proximity Read ↗

CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources.Semantic proximity Read ↗

TP53, hChk2, and the Li-Fraumeni syndrome.Semantic proximity Read ↗

Germline mutations of the p53 tumor-suppressor gene in cancer-prone families: a review.Semantic proximity Read ↗

Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.Semantic proximity Read ↗

Genetic mapping of a third Li-Fraumeni syndrome predisposition locus to human chromosome 1q23.Semantic proximity Read ↗

In search of TP53 mutational hot spots for Li-Fraumeni syndrome in Asian populations.Semantic proximity Read ↗

TP53 and CDKN1A mutation analysis in families with Li-Fraumeni and Li-Fraumeni like syndromes.Semantic proximity Read ↗

Molecular basis of the Li–Fraumeni syndrome: an update from the French LFS familiesSemantic proximity Read ↗

Exclusion of a p53 germline mutation in a classic Li-Fraumeni syndrome family.Semantic proximity Read ↗

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