SCIENTIFIC BACKGROUND

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53

Category:

Scientific Background

Prostate cancer is one of the most common types of cancer that occur in men. About 1 in 10 prostate cancer cases are associated with hereditary predisposition and have a higher risk of developing cancer in the future. Hereditary prostate cancers are also characterised by more aggressiveness than prostate cancers without a hereditary predisposition.

 

PreSENTIA hereditary Prostate cancer panel tests for numerous germline mutations that could cause prostate 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 been diagnosed with prostate cancer at a young age (<50 years old)

You have been diagnosed with aggressive prostate cancer at any age

You have family members who are diagnosed with prostate cancer at a young age (<50 years old)

You have close relatives on the same side of the family diagnosed with prostate cancer or breast (female and/or male), ovarian, colon, or other related cancers

You have family history of a cancer syndrome, including Hereditary Breast and Ovarian Cancer syndrome (HBOC), Hereditary Prostate Cancer (HPC), and Lynch syndrome

You are of Eastern European (Ashkenazi) Jewish ancestry.

 

How many genes are tested in this panel?

15 genes

 

How many hereditary cancer syndromes are associated with this panel?

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

Ataxia-telangiectasia syndrome (ATM)

Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)

Li-Fraumeni syndrome (TP53)

Li-Fraumeni syndrome 2 (CHEK2)

Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)• PTEN hamartoma syndrome (PTEN)

 

Recommendations by professional bodies

NCCN recommends germline testing for all prostate cancer patients with metastatic or high-risk/very-high-risk localized disease (based on Gleason score ≥7, disease stage, and prostate-specific antigen at diagnosis) and also prostate cancer patients with intraductal or cribriform histology, or with Ashkenazi Jewish ancestry (NCCN, 2021; Daly et al., 2021)

 

References and more information: 

National Comprehensive Cancer Network (NCCN). Prostate Cancer, version 1.2022. NCCN Clinical Practice Guidelines in Oncology.

Daly MB, Pal T, Berry MP, Buys SS, Dickson P, Domchek SM, Elkhanany A, Friedman S, Goggins M, Hutton ML; CGC; Karlan BY, Khan S, Klein C, Kohlmann W; CGC; Kurian AW, Laronga C, Litton JK, Mak JS; LCGC; Menendez CS, Merajver SD, Norquist BS, Offit K, Pederson HJ, Reiser G; CGC; Senter-Jamieson L; CGC; Shannon KM, Shatsky R, Visvanathan K, Weitzel JN, Wick MJ, Wisinski KB, Yurgelun MB, Darlow SD, Dwyer MA. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021 Jan 6;19(1):77-102. doi: 10.6004/jnccn.2021.0001. PMID: 33406487.

GENES

ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53
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