98%
921
2 minutes
20
Introduction: Familial history of melanoma is a well-known risk factor for the disease, and 7% melanoma patients were reported to have a family history of melanoma. Data relating to the frequency and clinical and pathological characteristics of both familial and non-familial melanoma in Spain have been published, but these only include patients from specific areas of Spain and do not represent the data for the whole of Spain.
Patients And Methods: An observational study conducted by the Spanish Group of Melanoma (GEM) analyzed the family history of patients diagnosed with melanoma between 2011 and 2013 in the dermatology and oncology departments.
Results: In all, 1047 patients were analyzed, and 69 (6.6%) fulfilled criteria for classical familial melanoma (two or more first-degree relatives diagnosed with melanoma). Taking into account other risk factors for familial melanoma, such as multiple melanoma, pancreatic cancer in the family or second-degree relatives with melanoma, the number of patients fulfilling the criteria increased to 165 (15.8%). Using a univariate analysis, we determined that a Breslow index of less than 1 mm, negative mitosis, multiple melanoma, and a history of sunburns in childhood were more frequent in familial melanoma patients, but a multivariate analysis revealed no differences in any pathological or clinical factor between the two groups.
Conclusions: Similar to that observed in other countries, familial melanoma accounts for 6.6% of melanoma diagnoses in Spain. Although no differences in the multivariate analysis were found, some better prognosis factors, such as Breslow index, seem more frequent in familial melanoma, which reflect a better early detection marker and/or a different biological behavior.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395344 | PMC |
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0124239 | PLOS |
Case Rep Genet
August 2025
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
is the primary high-risk predisposition gene for familial cutaneous melanoma. In the Netherlands, most carriers of pathogenic germline variants in harbor a unique, population-specific founder variant, c.225_243del, commonly referred to as p16-.
View Article and Find Full Text PDFDermatol Reports
September 2025
Cancer Genetics, IRCCS Ospedale Policlinico San Martino, Genoa.
This study assessed the implementation of a tele-genetic counseling (TGC) pathway for hereditary melanoma risk using the culturally adapted Italian Melanoma Intergroup Tele-Genomics Outcome Scale (IMI-TGOS) questionnaire. Among 278 eligible patients, 177 (64%) completed the survey across three Italian centers. Responses showed high comprehension and perceived utility: 88% of participants reported understanding the information received, 96% recognized familial implications, and over 85% felt confident in managing risk and making decisions.
View Article and Find Full Text PDFWorld J Surg Oncol
September 2025
Department of Plastic and Reconstructive Surgery, The Second Affiliated Hospital of Anhui Medical University, Hefei, 230601, PR China.
Background: Skin cutaneous melanoma (SKCM) is the third most common type of cutaneous malignant tumor with a poor prognosis. This research aimed to recognize molecular clusters and develop a novel prognostic signature based on natural killer (NK) cell-related genes (NKCRGs) in SKCM.
Methods: The data were obtained from public databases, including ImmPort, TCGA, GEO, GTEx and GEPIA2.
Sci Data
September 2025
Laboratory of Molecular Medicine and Genomics, Department of Medicine, Surgery and Dentistry 'Scuola Medica Salernitana', University of Salerno, Baronissi, (SA), Italy.
Cutaneous melanoma (CM), with a continuously rising incidence worldwide, represents the most aggressive type of skin cancer, and it leads to the majority of skin cancer-related deaths. Approximately 50% of CM carry the activating BRAF mutation and, although BRAF inhibitors have demonstrated clinical efficacy, most patients often develop early resistance to treatment. Aberrant expression of non-coding RNAs (ncRNAs), which represent less than 2% of the entire transcriptome, has been implicated in CM development and progression.
View Article and Find Full Text PDFActa Oncol
August 2025
Department of Oncology and Pathology, Karolinska Institutet, Stockholm, Sweden; Theme Cancer, Karolinska University Hospital, Stockholm, Sweden.
Background And Purpose: Approximately 5-10% of cutaneous melanoma occurs in individuals with a family history of the disease. While known high-penetrance genes, such as CDKN2A, explain some cases, a substantial proportion of hereditary melanoma remains genetically undefined. Recently, germline variants in genes involved in telomere regulation, including POT1, TERT, ACD, and TERF2IP, have been identified in melanoma-prone families.
View Article and Find Full Text PDF