ECEGEN Genetic Services

Cancer Genetics and Hereditary Cancers

We assess hereditary cancer risk and analyze the tumor's genetic profile to help identify targeted drugs and treatment options.

Cancer is the most complex genetic disease of our time. Worldwide, one in five deaths is caused by cancer. Environmental factors (such as smoking, radiation exposure, and poor nutrition), together with genetic factors, play an important role in the development of cancer. Between 5–10% of all cancers are hereditary. In other words, cancer arises through changes in genes and can be passed on to subsequent generations. The occurrence of cancer in one individual as a result of genetic mutations should raise concern that other family members may also be at risk of developing cancer.

Specialist and client reviewing family history during hereditary cancer assessment

In Which Situations Should Cancer Patients Undergo Genetic Testing?

Multiple occurrences of the same cancer type in the family
Cancers that typically occur at advanced ages appearing in young individuals (e.g., colon cancer in a 20-year-old)
The occurrence of more than one type of cancer in a single individual (e.g., patients diagnosed with both breast and ovarian cancer)
Bilateral cancer development in paired organs (e.g., both breasts or kidneys)
The occurrence of multiple childhood cancers among siblings (such as a sarcoma diagnosis in two siblings)
Occurrence of cancer in an unusual gender (e.g., male breast cancer)

What Are the Benefits of Genetic Testing for Cancer Patients?

Genetic tests performed in cancer patients allow a definitive diagnosis to be established in some cases where clinical findings are otherwise unclear.

In relatives of individuals who have been diagnosed with cancer and found to carry a relevant genetic alteration through genetic testing, it should be investigated whether the same alteration is present. Routine cancer screening should be recommended for individuals at risk of cancer. The aim is to take risk-reducing measures based on genetic test results, enabling early detection and appropriate treatment for patients.

How Do We Support Targeted Drug Selection in Cancer Treatment?

We analyze genetic alterations detected in tumor tissue or blood to identify actionable biomarkers. These findings can support the evaluation of suitable targeted drugs and therapies, help avoid potentially ineffective treatments, and contribute to a personalized treatment plan.

A genetic test result is not a treatment decision on its own. Targeted drugs and other treatment options are determined by the treating oncology specialist after considering the diagnosis, clinical condition, and current guidelines together.

Genetic Tests Guiding Cancer Treatment

Colorectal Cancer Mutation Panel (KRAS, BRAF, NRAS)
Non-Small Cell Lung Cancer (EGFR, EML4-ALK, KRAS, ROS1)
Breast Cancer (Her2/Neu FISH Analysis)
Papillary Thyroid Cancer (BRAF)
Melanoma (BRAF)

Sample family tree illustrating hereditary cancer risk

What Are Cancer Screening Panels Used For?

The same cancer, or similar or different types of cancer, may occur in more than one member of a family. Cancer screening test panels allow multiple genes associated with a given type of cancer to be examined simultaneously for diagnostic purposes.

Hereditary Cancer Test Panels

Breast and Ovarian Cancer Screening Panel
Colorectal Cancer Screening Panel
Endometrial Cancer Screening Panel
Prostate Cancer Screening Panel
Comprehensive Hereditary Cancer Screening

Certain Hereditary Cancer Syndromes

Hereditary Breast and Ovarian Cancer

Breast cancer is the most common cancer among women worldwide and in our country, and it ranks first among causes of cancer death in women. A family history is an important risk factor for breast cancer, and 5-10% of cases are known to be familial. While the lifetime risk of breast cancer in women is around 12%, the risk of ovarian cancer is approximately 1.4%. In women carrying a BRCA1 mutation, the risk of breast cancer is reported to be 71-85%, and the risk of ovarian cancer 40-45%. Similarly, in the presence of BRCA2 gene mutations, the risk of breast cancer is reported to be 80-85%, and the risk of ovarian cancer 10-27%.

Hereditary Colorectal Cancer Syndromes

Of hereditary colorectal cancer cases, 70-85% occur sporadically and 15-30% are hereditary. Colorectal cancer syndromes account for 2-5% of all colorectal cancers.

Lynch syndrome (Hereditary Nonpolyposis Colon Cancer - HNPCC) is the most common genetic form of colorectal cancer, seen in 2-4% of all colorectal cancer cases. Lynch syndrome arises as a result of mutations in one of the DNA mismatch repair genes (MLH1, MSH2, MSH6, or PMS2).

Familial adenomatous polyposis (FAP) is characterized by numerous (>100) premalignant colorectal adenomatous polyps and results from mutations in the APC gene. FAP is inherited in an autosomal dominant manner. Attenuated FAP (AFAP) is considered a subgroup of FAP patients, in whom the number of colorectal adenomas (<100) is lower. Mutations in the MUTYH gene cause MUTYH-associated polyposis.

Familial Gastrointestinal Stromal Tumor (GIST)

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the gastrointestinal system, occurring predominantly in the stomach (40-70%), small intestine (20-40%), colon and rectum (5-15%), omentum/mesentery (7%), and esophagus (<5%). It is a rare cancer characterized by mutations in the KIT, PDGFRA, SDHB, and SDHC genes.

Familial Pancreatic Cancer

Although rare, this cancer has high mortality rates. It is projected to rank second among cancers causing mortality worldwide by 2030. Approximately 10% of cases are hereditary.

An increased risk of pancreatic cancer has been reported in cases of Lynch syndrome, Peutz-Jeghers syndrome, familial adenomatous polyposis, hereditary melanoma, and hereditary breast-ovarian cancer. BRCA1 gene mutations increase the risk of prostate cancer 3.8-fold, while BRCA2 gene mutations increase it 8.6-fold. In addition, recent studies have reported that more than 10% of individuals with metastatic prostate cancer carry mutations in DNA repair genes.

Familial Prostate Cancer

Prostate cancer is the most common non-cutaneous cancer in men. It is hereditary in 5-10% of all cases. The presence of first-degree relatives affected by prostate cancer across three consecutive generations on either the maternal or paternal side, its occurrence at a young age, and a family history of cancers such as breast, ovarian, or pancreatic cancer indicate that prostate cancer arises from genetic factors. Pathogenic mutations may be found in the BRCA1, BRCA2, and HOXB13 genes.

Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1: This is a disease with autosomal dominant inheritance. Tumors occur in the endocrine glands and in certain parts of the small intestine and stomach. Mutations in the MEN1 gene are found in 80-90% of familial cases.

Multiple Endocrine Neoplasia Type 2

Multiple Endocrine Neoplasia Type 2: There are three types — MEN 2A, FMTC (familial medullary thyroid carcinoma), and MEN 2B. All types carry a high risk of medullary thyroid cancer. There is an increased risk of pheochromocytoma in MEN 2A and MEN 2B, and an increased risk of parathyroid adenoma or hyperplasia in MEN 2A. Mutations in the RET proto-oncogene can be detected in 98% of MEN2A cases, 95% of FMTC cases, and 98% of individuals diagnosed with MEN2B.

Li-Fraumeni Syndrome

Li-Fraumeni syndrome (LFS) results from mutations in the TP53 gene and shows autosomal dominant inheritance. It is a disease characterized by the emergence of various types of cancer beginning at a young age in affected individuals. Soft tissue sarcoma, osteosarcoma, premenopausal breast cancer, brain tumors, adrenocortical carcinoma (ACC), and leukemias may occur.

Testing Criteria:

Detection of a tumor within the LFS tumor spectrum before age 45 in the individual
Detection of one or more cancer types within the LFS tumor spectrum before age 56 in at least one first- or second-degree relative (excluding breast cancer if the proband has breast cancer)
Detection of multiple tumors in the proband (excluding multiple breast cancers), where two of the cancer types belong to the LFS spectrum and occurred before age 45
The presence of adrenocortical carcinoma, choroid plexus tumor, or embryonal anaplastic subtype rhabdomyosarcoma in the patient, regardless of family history
Diagnosis of breast cancer before age 30

Hereditary Renal Cancer Syndromes

Hereditary kidney cancer accounts for 3-5% of all kidney cancers. Birt-Hogg-Dubé syndrome (FLCN), hereditary papillary renal cancer (MET), tuberous sclerosis complex (TSC1, TSC2), Von Hippel-Lindau syndrome (VHL), and PTEN hamartoma syndrome (PTEN) can be counted among the hereditary renal cancer syndromes.

Birt-Hogg-Dubé Syndrome

This is a rare genetic disease characterized by skin tumors, including multiple fibrofolliculomas, trichodiscomas, and acrochordons or skin tags. Mutations in the FLCN gene are found in 88% of cases. It shows autosomal dominant inheritance.

PTEN Hamartoma Tumor Syndrome

This syndrome encompasses Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), PTEN-related Proteus syndrome (PS), and Proteus-like syndrome. PTEN gene mutations are found in 25-80% of Cowden syndrome cases, 60% of BRRS cases, 50% of PLS patients, and 20% of PS cases.

Cowden Syndrome: A multiple hamartoma syndrome carrying a high risk of benign and malignant tumors of the thyroid, breast, and endometrium. The lifetime risk of breast cancer is reported to be 85%, the risk of thyroid cancer 35%, and the risk of endometrial cancer 28%.
BRRS (Bannayan-Riley-Ruvalcaba Syndrome): A congenital disease characterized by macrocephaly, intestinal hamartomatous polyposis, and lipomas.
Proteus Syndrome: A complex disorder defined by congenital malformations and hamartomatous overgrowth of various tissues.
Proteus-like Syndrome: Refers to individuals who resemble Proteus syndrome but do not meet the diagnostic criteria for Proteus syndrome.

References

Genetic Testing for Hereditary Cancer Syndromes — National Cancer Institute
American Cancer Society medical information (Last Medical Review: March 25, 2017 / Last Revised: January 4, 2018)
Lu KH, Wood ME, Daniels M, Burke C, Ford J, Kauff ND, Kohlmann W, Lindor NM, Mulvey TM, Robinson L, Rubinstein WS, Stoffel EM, Snyder C, Syngal S, Merrill JK, Wollins DS, Hughes KS, American Society of Clinical Oncology. J Clin Oncol. 2014 Mar 10; 32(8):833-40.
Amundadottir LT. Pancreatic Cancer Genetics. International Journal of Biological Sciences. 2016;12(3):314-325. doi:10.7150/ijbs.15001
Şahin Fİ. Genetic Counseling in Hereditary Cancers. Türkiye Klinikleri J Med Genet-Special Topics 2017;2(2):107-12.
Giri VN, Hyatt C, Kelly WK. Current BRCA1/2 Genetic Testing Guidelines for Prostate Cancer and Implications for Oncologists. 2017.
Genetics of Prostate Cancer — National Cancer Institute
Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, Gauthier-Villars M, Stoppa-Lyonnet D, Consolino E, Brugières L, Caron O, Benusiglio PR, Bressac-de Paillerets B, Bonadona V, Bonaiti-Pellie C, Tinat J, Baert-Desurmont S, Frebourg T. Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers. J Clin Oncol. 2015 Jul 20;33(21):2345-52.
Eng C. PTEN Hamartoma Tumor Syndrome. 2001 Nov 29 [Updated 2016 Jun 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. NCBI Bookshelf

Cancer genetics test catalog

Cancer panels, genes, and biomarkers

Explore panels and targeted analyses for lung, pancreatic, breast, ovarian, colorectal, and prostate cancers, as well as hematologic cancers. Open any test to see its gene coverage and technical details.

Search by cancer type

Pancreatic Cancer Lung Cancer Breast and Ovarian Cancer Colorectal Cancer Prostate Cancer Melanoma Sarcoma Neuroendocrine Tumor Acute Myeloid Leukemia (AML)Acute Lymphoblastic Leukemia (ALL)Chronic Lymphocytic Leukemia (CLL)Chronic Myeloid Leukemia (CML)Multiple Myeloma Non-Hodgkin Lymphoma Myelodysplastic Syndrome Pediatric Neuroblastoma Solid Tumors

Cancer Panels (22)

Multigene, focused, and comprehensive panels used in hereditary and somatic cancer assessment.

EC-SCANCERSomatic Cancer Panel30 genes

Somatic Cancer Panel is a genetic analysis test designed to be used in the clinical evaluation of patients with suspicion or diagnosis.

Method: Next Generation Sequencing (NGS)
Sample: Paraffin Block (FFPE Tissue) or Fresh Tumor Tissue
Turnaround: 4-6 Weeks

Gene coverage

AKT1, ALK, BRAF, CDK4, CDK6, DDR2, EGFR, ERBB2, ERBB4, ESR1, FGFR2, GAPDH, IDH1, IDH2, KIT, KRAS, MAP2K1, MET, MYD88, NRAS, NTRK1, PDGFRA, PIK3CA, PTEN, RICTOR, ROS1, SOD2, STK11, TERT, TP53

Indications

Family History of Cancer at an Early Age
Presence of Multiple Tumors
Getting a Personal Cancer Diagnosis
Clinical Cancer Risk Assessment