• Ελληνικά
  • English

    • Genome Diagnostics > Genetic diagnosis of hereditary cancer

    Genetic diagnosis of hereditary cancer

    Next Generation Sequencing (NGS) using gene panels

    50% of men and more than 60% of women will develop cancer during their lifetime. However, approximately 5%-10% of all cancer cases are hereditary. Hereditary cancer is caused by a defect – a variation in a gene that has been inherited. When individuals have such a variation in their genetic material, they have a high/ moderate or low risk of developing cancer and a 50% chance of passing the variant to the next generation.
    Next generation sequencing (NGS) can be used to analyse groups of genes associated with hereditary cancer syndromes, when such evidence exists, according to International Guidelines.

    NGS using cancer gene panels:

    • Confirms whether it is hereditary cancer
    • Identifies the genetic variation in the specific gene causing it
    • Provides valuable genetic counseling to 1st and 2nd degree relatives on the risk of family members developing the same condition, so that they can take advantage of the most appropriate prevention options
    • Contributes to the optimisation of the treatment regimens administered by the treating oncologist and in some cases, depending on the identified gene, contributes to personalised treatment.

    Sample type:

    1-2 ml peripheral blood in EDTA

    Time from sample to result:

    4-5 weeks

    Referral Form download icon

    Hereditary cancer

    Approximately 40% of hereditary breast cancer cases are due to pathogenic or possible pathogenic variants in BRCA1/ BRCA2 genes. Women who have pathogenic variants in BRCA1/2 genes have more than 70% chance of developing breast and about 54% chance of developing ovarian cancer during their lifetime, and have also increased risk of developing other types of cancer.

    In addition to BRCA1/BRCA2 genes, other genes may increase the risk of developing breast cancer, such as CDH1, PALB2, PTEN, STK11, TP53, etc. Many of these genes also affect the risk of other types of cancer, such as pancreatic cancer, melanoma, prostate cancer.

    NGS genetic screening for hereditary breast/ovarian cancer includes bionformatic analysis of the following 22 genes: ATM, BRCA1, BRCA2, BARD1, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MLH3, MSH2, MSH6, MRE11, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53, XRCC2.

    Hereditary colorectal cancer accounts for about 35% of all hereditary cancer cases. Most of it is due to variants in the APC, MUTYH and DNA repair genes, MLH1, MSH2, MSH6 and PMS2. Lynch syndrome and familial adenomatous polyposis are the most common forms of hereditary colorectal cancer.

    Finding the etiological genetic variant in familial colorectal cancer is of great importance to the family, as once it is established in a particular family, prevention strategies can be directed specifically at those individuals who carry the pathogenic variant and who are therefore at risk of developing colorectal cancer and other related malignancies. On the other hand, non-carriers can avoid excessive clinical surveillance.

    NGS gene testing for hereditary colorectal cancer includes bionformatic analysis of the following 22 genes: APC, AXIN2, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53, ATM, BARD1, MLH3.

    Gastrointestinal cancer (GIST) are mostly sporadic cancers but pathogenic variations in specific genes have been identified in hereditary forms. Finding the etiological pathogenic variant in familial GIST cancer is of clinical importance for proper therapeutic management.

    NGS gene testing for hereditary gastrointestinal cancer includes bioinformatic analysis of the following 18 genes: APC, BMPR1A, CDH1, CTNNA1, EPCAM, MLH1, MRE11, MSH2, MSH6, PDGFRA, PMS2, SDHA, SDHB, SDHC, SDHD, SMAD4, STK11, TP53.

    Prostate cancer in most cases has a genetic background. Patients with hereditary prostate cancer tend to develop malignancies at a younger age, have a more rapid progression with a greater likelihood of local metastases and a higher risk of recurrence after surgical resection. A family history of hereditary breast or ovarian cancer or Lynch syndrome increases the risk of prostate cancer.

    NGS gene testing for for hereditary prostate cancer includes bioinformatic analysis of the following 15 genes: ATM, BRCA1, BRCA2, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PMS2, PALB2, PTEN, RAD51D, TP53.

    Pancreatic cancer occurs in the cells of the pancreatic duct and is usually an adenocarcinoma. It is the 4th leading cause of cancer deaths worldwide.

    NGS gene testing for hereditary pancreatic cancer includes bioinformatic analysis of the following 19 genes:APC, ATM, BMPR1A, BRCA1, BRCA2, BARD1, CDK4, CDKN2A, EPCAM, MEN1, MLH1, MRE11, MSH2, MSH6, PALB2, PMS2, SMAD4, STK11, TP53.