SCIENTIFIC BACKGROUND

BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL

Category:

Scientific Background

Renal cancer is a type of cancer that occurs in the kidney and it is the 14th most common type of cancer worldwide. There are different risk factors for developing renal cancer, with inheritance accounting for about 5-8% of all cases. Genetic predisposition can also increase the chances of developing syndromes associated with elevated risk of future renal cancer development.

 

PreSENTIA hereditary Renal cancer panel tests for numerous germline mutations that could cause renal (kidney) 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 multiple family members who have been diagnosed with renal cancer.

• You have been diagnosed with renal cancer at a young age.

• You have multiple tumors in one kidney, or cancer in both kidneys.

• You have been diagnosed with a type of kidney cancer that is known to be commonly inherited.

• You have been diagnosed with an inherited condition that has higher risk of developing cancer in the future

 

How many genes are tested in this panel?

13 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

BAP1 mutation associated disease (BAP1)

Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)

Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)

Li-Fraumeni syndrome (TP53)

Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

PTEN hamartoma syndrome (PTEN)

Von-Hippel Lindau syndrome (VHL)

 

References and more information: 

 The above information was taken by professional bodies such as American Cancer Society, Global Cancer Observatory, National Cancer Institute.

Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, Metwalli AR, Srinivasan R, Linehan WM. Defining early-onset kidney cancer: implications for germline and somatic mutation testing and clinical management. J Clin Oncol. 2014 Feb 10;32(5):431-7. doi: 10.1200/JCO.2013.50.8192. Epub 2013 Dec 30. PMID: 24378414; PMCID: PMC3912328.

GENES

BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL
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