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

Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families

5 Jan 2025

Abstract excerpt

We aimed to describe the clinical characteristics of families with heritable TP53-related cancer (hTP53rc) syndrome in Sweden with class 4 and 5 germline TP53 variants (gTP53), and to evaluate the genotype-phenotype correlation. These results were also used to evaluate our previously published phenotype prediction model based on TP53 missense variants and their impact on protein conformation. 90 families with...

Read the complete abstract on PubMed

Topics

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

Share to Cancer Genomics and Diagnostics
Share to Cancer-related Molecular Pathways
Share to Genetic factors in colorectal cancer

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39757328
DOI: 10.1038/s41431-024-01753-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 10 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 familiesPMID 39757328Read ↗

SEOM clinical guideline on heritable TP53-related cancer syndrome (2022).Semantic proximity Read ↗

Guidelines for the Li–Fraumeni and heritable TP53-related cancer syndromesSemantic proximity Read ↗

Deciphering dual clinical entities associated with TP53 pathogenic variants: Insights from 53,085 HBOC panel analyses in French laboratories.Semantic proximity Read ↗

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene <i>TP53</i>Semantic proximity Read ↗

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Semantic proximity Read ↗

Functional characterization of novel germline TP53 variants in Swedish familiesSemantic proximity Read ↗

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.Semantic proximity Read ↗

Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.Semantic proximity Read ↗

TP53 germline mutations in the context of families with hereditary breast and ovarian cancer: a clinical challenge.Semantic proximity Read ↗

Germline p.R181H variant in TP53 in a family exemplifying the genotype-phenotype correlations in Li-Fraumeni syndrome.Semantic proximity Read ↗

In cis TP53 and RAD51C pathogenic variants may predispose to sebaceous gland carcinomas.Semantic proximity Read ↗

Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.Semantic proximity Read ↗

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