Basic characteristics of the clinical phenotype
Prostate cancer is a heterogeneous disease affecting the prostate gland. It can be asymptomatic or develop rapidly and aggressively. More than 95% of prostate tumors are adenocarcinomas. Of these, 70% occur in the peripheral zone, 15-20% in the central zone and 10-15% in the transition zone of the prostate gland.

Genetic factors account for 42% of the risk of developing RP. If a first-line relative has prostate cancer, the risk of developing this disease is at least double. If two or more first-line relatives are affected, the risk increases by 5-11 times.

Indications  for referral:
Ø Presence of three or more affected relatives or at least two relatives with early-onset (before age 55) prostate cancer
Ø Prostate cancer diagnosis and presence of two, three or more relatives with prostate cancer
Ø Presence of close relatives with other oncological diseases such as breast cancer, ovarian cancer, colorectal carcinoma, Li-Fraumeni Syndrome
Ø Early onset prostate cancer
Ø Presence of several different primary tumors, including prostate cancer

The study allows to determine the risk of developing prostate cancer in family members with a family history of this disease or other oncological diseases, in some cases to predict the aggressiveness of a formed prostate tumor and to recommend a treatment strategy (for example, avoiding radiotherapy in the presence of mutations in TP53).

Method: Next-generation sequencing (NovaSeq6000, Illumina).

The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of the target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine carrier status in cases where the mutation is known (Test #182).

Sensitivity of the method: depends on the content of GC and AT, as well as the presence of segmentally duplicated genes.

 

What does the test involve?

· DNA isolation and sample storage.

· Next generation sequencing.

· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.

· Forming a written result of the genetic test.

· Diagnostic interpretation of results and genetic counseling.

 
Biological material: Venous blood or DNA

For more information, please read the "Biological material requirements and shipping information" carefully.