Scientific Background

Familial melanoma is an inherited condition which can lead to the formation of melanoma, a type of skin cancer, in the future. Mutated genes that lead to familial melanoma can run in families and pass from generation to generation. Patients with familial melanoma have higher risk of early development of melanomas as well as develop multiple primary melanomas.


PreSENTIA hereditary Familial Melanoma cancer panel tests for numerous germline mutations that could cause familial melanoma skin cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.


Who is this test for?

You should get tested if you meet at least one of the criteria below:

You have personal history of melanoma at a young age

You have a family member diagnosed with melanoma at a young age

You have a family member with an inherited mutation related to melanoma

You have at least two first-degree family members who have had metastatic melanoma


How many genes are tested in this panel?

7 genes


How many hereditary cancer syndromes are associated with this panel?

5 Hereditary cancer syndromes are associated with this panel. These are:

BAP1 mutation associated disease (BAP1)

Hereditary pancreatic-melanoma syndrome (CDKN2A, CDK4)

Li-Fraumeni syndrome (TP53)

PTEN hamartoma syndrome (PTEN)

Retinoblastoma (RB1)


Recommendations by professional bodies

“Genetic testing may also be considered for individuals with a strong family history of melanoma”. NCCN 2021


References and more information: 

The above information was taken by professional bodies such as NCCN

Tsao H, Chin L, Garraway LA, Fisher DE. Melanoma: from mutations to medicine. Genes Dev. 2012 Jun 1;26(11):1131-55. doi: 10.1101/gad.191999.112. PMID: 22661227; PMCID: PMC3371404.

Zocchi L, Lontano A, Merli M, Dika E, Nagore E, Quaglino P, Puig S, Ribero S. Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management. J Clin Med. 2021 Aug 23;10(16):3760. doi: 10.3390/jcm10163760. PMID: 34442055; PMCID: PMC8397216.


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