Oncology Genetic Tests

What is Comprehensive Genomic Profiling (CGP)?

Virtually every cancer has its own unique set of molecular alterations. Technologies have been developed to study cancers and derive molecular characteristics that increasingly have implications for clinical care1.

Considerable advancements in next generation sequencing (NGS) techniques have sparked the use of comprehensive genomic profiling (CGP) as a guiding tool for precision-centered oncological treatments. The past two decades have seen the completion of the human genome project, and the consequential invention of NGS. High-throughput sequencing technologies support the discovery and commonplace use of individualized cancer treatments, specifically immune-centered checkpoint inhibitor therapies, and oncogene and tumor suppressor gene targeted therapies2.

Tumour genomic profiling can refine cancer subtype classification, identify which patients are most likely to benefit from systemic therapies3.

Kapsamlı Genomik Profilleme (CGP) neden kullanılır?
Kapsamlı Genomik Profilleme (CGP) nedir?

Why use comprehensive genomic profiling (CGP)?

The pace of drug development and discovery in oncology has reached warp speed in recent years, and in 2023, the US Food and Drug Administration approved 45 oncology drugs, including 17 new ones4.

Comprehensive genomic profiling (CGP) with next-generation sequencing detects genetic alterations of hundreds of genes simultaneously and multiple molecular biomarkers with one test. In the personalized medicine era, CGP is increasingly used for cancer diagnosis, treatment selection, and prognosis prediction5.

Liquid Biopsy

Over the past decade, invasive techniques for diagnosing and monitoring cancers are slowly being replaced by non-invasive methods such as liquid biopsy 6.

Liquid biopsies have drastically revolutionized the field of clinical oncology, offering

  • ease in tumor sampling,
  • continuous monitoring by repeated sampling,
  • devising personalized therapeutic regimens, and
  • screening for therapeutic resistance6.
Likit (Sıvı) Biyopsi
Herediter Kanser Panelleri

Hereditary Cancer Panels

About 5%–10% of all cancers are thought to be caused by harmful genetic changes that are inherited from a parent7. Some types of cancer – mainly breast, ovarian, colorectal and prostate cancer – can be strongly influenced by genes and can run in families8.

BRCA1 and BRCA2 are examples of genes that raise your cancer risk if they become altered. Having a variant BRCA gene greatly increases a woman’s chance of developing breast cancer and ovarian cancer. They also increase a man’s chance of developing male breast cancer and prostate cancer8. 

Hereditary Cancer Panels can help you understand and manage your risk for breast, ovarian, and other cancers. Knowing whether or not you have a genetic mutation that makes you more likely to get cancer can help you decide what steps to take to prevent cancer or find it early. Genetic counseling before genetic testing is important to find out if you and your family are likely to benefit from genetic testing9.

Genetic counseling and testing may be recommended for people who have had certain cancers or certain patterns of cancer in their family. If you have any of the following, you might consider talking to a genetic counselor about genetic testing10:

  • Several first-degree relatives (mother, father, sisters, brothers, children) with cancer
  • Many relatives on one side of the family who have had the same type of cancer
  • A cluster of cancers in your family that are known to be linked to a single gene mutation (such as breast, ovarian, and pancreatic cancers, which are sometimes linked to BRCA gene mutations)
  • A family member with more than 1 type of cancer
  • Family members who had cancer at a younger age than normal for that type of cancer
  • Close relatives with cancers that are linked to rare hereditary cancer syndromes
  • A rare cancer (in you or a family member), such as breast cancer in a man or retinoblastoma
  • A particular race or ethnicity (which is linked to a higher risk of BRCA gene mutations)
  • A physical finding that’s linked to an inherited cancer (such as having many colon polyps)
  • A known genetic mutation in one or more family members who have already had genetic testing
  • Lab tests of your cancer cells that show features that might be linked to an inherited gene mutation

HRD Score

As researchers continue to study the underlying genomics of cancer, they are uncovering broader molecular signatures occurring across cancer types. Homologous recombination deficiency (HRD) is one of these signatures, showing increasing importance in tumor biology for ovarian, breast, pancreatic, and prostate cancers11.

Homologous recombination deficiency (HRD) is a phenotype that is characterized by the inability of a cell to effectively repair DNA double-strand breaks using the homologous recombination repair (HRR) pathway12.

HRD Skoru

HRD-related genomic markers are also known as “scars”. Genomic scars can be defined as aberrations that cause structural changes in chromosomes. The most significant genomic scars are loss of heterozygosity (LOH), telomeric-allelic imbalance (TAI), and large-scale state transitions (LSTs). When these three abnormalities of the genome are looked at together, they give a genomic instability score (GIS) that can be used to tell the status of HRD13.

HRD is an emerging biomarker with both predictive and prognostic value in high-grade serous ovarian carcinoma (HGSOC)13. HRD Score testing is performed to determine if an Ovarian Cancer patient is eligible for PARP inhibitors treatment. NCCN Guidelines say that all patients with ovarian cancer should get HRD testing13.

“Gencare is not an organisation providing healthcare services. The information and explanations shared by Gencare above and on this website are for informative purposes only. It should not be used for disease assessment and/or diagnosis. All medical conditions require professional medical assessment, diagnosis and treatment. If you have any suspicions about cancer or any other health problem, you should consult your specialist physician immediately. Remember that self-diagnosis or relying on online resources can harm your health.”

  1. https://doi.org/10.1053/j.seminoncol.2011.01.013
  2. Pankiw, M., Brezden-Masley, C. & Charames, G.S. Comprehensive genomic profiling for oncological advancements by precision medicine. Med Oncol 41, 1 (2024).
  3. Chakravarty, D., Solit, D.B. Clinical cancer genomic profiling. Nat Rev Genet 22, 483–501 (2021).
  4. Oncology (Cancer): Hematologic Malignancies Approval Notifications. https://www.fda.gov/drugs/resources-information-approved-drugs/oncology-cancer-hematologic-malignancies-approval-notifications
  5. Tjota YW et al. J Appl Lab Med. 2024 Jan 3;9(1):76-91.
  6. Lone SN, Nisar S, Masoodi T, et al. Liquid biopsy: a step closer to transform diagnosis, prognosis and future of cancer treatments. Mol Cancer. 2022;21(1):79. Published 2022 Mar 18. Accessed 8/11/2022.
  7. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet.
  8. https://www.nhs.uk/conditions/predictive-genetic-tests-cancer/
  9. https://www.cdc.gov/breast-ovarian-cancer-hereditary/testing/index.html
  10. https://www.cancer.org/cancer/risk-prevention/genetics/genetic-testing-for-cancer-risk/understanding-genetic-testing-for-cancer.html
  11. Yamamoto H, Hirasawa A. Homologous Recombination Deficiencies and Hereditary Tumors. Int J Mol Sci. 2021;23(1):348. Published 2021 Dec 29. doi:10.3390/ijms23010348
  12. Stewart MD et al.Homologous Recombination Deficiency: Concepts, Definitions, and Assays.Oncologist.2022 Jan;27(3):167-174. doi: 10.1093/oncolo/oyab053
  13. Mangogna A et al.J Pers Med. 2023 Feb 2;13(2):283. doi: 10.3390/jpm13020284