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

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.

Melanoma research - 1 Dec 2004

Mantelli Michela, Pastorino Lorenza, Ghiorzo Paola, Barile Monica, Bruno William, Gargiulo Sara, Sormani Maria Pia, Gliori Sara, Vecchio Stefania, Ciotti Paola, Sertoli Mario Roberto, Queirolo Paola, Goldstein Alisa M, Bianchi-Scarrà Giovanna

Abstract excerpt

Although the presence of multiple cases of melanoma on the same side of a family is the best predictor of germline CDKN2A mutation, other features (i.e. early age at onset) may be useful to identify carriers. We analysed the records of 682 hospital-based Ligurian melanoma patients. Of these, 238...

Read the complete abstract on PubMed

Topics

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

Share to Cyclin-Dependent Kinase Inhibitor p16
Share to DNA, Neoplasm

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Genetic Carrier Screening

Share to Medical Records

Share to Melanoma

Share to Skin Neoplasms

Source

Identifiers

PMID: 15577313
DOI: 10.1097/00008390-200412000-00002

Genes

CDK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15577313-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients.PMID 15577313Read ↗

Sporadic multiple primary melanoma cases: CDKN2A germline mutations with a founder effect.Semantic proximity Read ↗

A single genetic origin for the G101W CDKN2A mutation in 20 melanoma-prone families.Semantic proximity Read ↗

Low prevalence of germline CDKN2A and CDK4 mutations in patients with early-onset melanoma.Semantic proximity Read ↗

Cutaneous phenotype and MC1R variants as modifying factors for the development of melanoma in CDKN2A G101W mutation carriers from 4 countries.Semantic proximity Read ↗

The D84E variant of the alpha-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset.Semantic proximity Read ↗

High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families.Semantic proximity Read ↗

CDKN2A germ-line mutations in individuals with multiple cutaneous melanomas.Semantic proximity Read ↗

The M53I mutation in CDKN2A is a founder mutation that predominates in melanoma patients with Scottish ancestry.Semantic proximity Read ↗

Characterization of ligurian melanoma families and risk of occurrence of other neoplasiaSemantic proximity Read ↗

Absence of germline CDKN2A mutation in Sicilian patients with familial malignant melanoma: Could it be a population-specific genetic signature?Semantic proximity Read ↗

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