SCIENTIFIC BACKGROUND

BAP1, BRCA2, CDK4, CDKN2A (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), PTEN, RB1, TP53

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Scientific Background

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?

According to genetic testing guidelines, people who might benefit from genetic testing for hereditary melanoma cancers are those that have:

  • • At least two first-degree family member who have had metastatic melanoma
  • • At least one family member has had multiple melanomas
  • • Family or personal history of a hereditary cancer syndrome associated with melanoma
  • • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

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)
GENES
BAP1, BRCA2, CDK4, CDKN2A (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), PTEN, RB1, TP53
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