Scientific Background

PreSENTIA hereditary Skin (XP-associated) cancer panel tests for numerous germline mutations that could cause 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.


Hereditary Xeroderma Pigmentosum (XP) associated skin cancer is a type of cancer that is caused in patients with XP syndrome. The XP syndrome is a rare inherited condition and it is caused by mutations in the DNA repair genes. People with this syndrome are characterised by sensitivity to UV rays from the sunlight and they also have greater risk of developing skin cancer.


Who is this test for?

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

• You have family or personal history of a hereditary cancer syndrome associated with skin cancers

• You have a family member that has been diagnosed with a germline mutation associated with cancer susceptibility


How many genes are tested in this panel?

9 genes


How many hereditary cancer syndromes are associated with this panel?

1 Hereditary cancer syndrome is associated with this panel. This is:

Xeroderma Pigmentosum syndrome (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC)


References and more information: 

Daya-Grosjean L. Xeroderma pigmentosum and skin cancer. Adv Exp Med Biol. 2008;637:19-27. doi: 10.1007/978-0-387-09599-8_3. PMID: 19181107.

Black JO. Xeroderma Pigmentosum. Head Neck Pathol. 2016 Jun;10(2):139-44. doi: 10.1007/s12105-016-0707-8. Epub 2016 Mar 14. PMID: 26975629; PMCID: PMC4838978.

Leung AK, Barankin B, Lam JM, Leong KF, Hon KL. Xeroderma pigmentosum: an updated review. Drugs Context. 2022 Apr 25;11:2022-2-5. doi: 10.7573/dic.2022-2-5. PMID: 35520754; PMCID: PMC9045481.


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