The information on this website is not intended for diagnosis or treatment. Please consult your physician for health concerns.

+90 850 321 50 00

Hereditary Cancer Syndromes

Inherited mutations causing increased cancer susceptibility

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Onkoloji department. Book Appointment →

What is Hereditary Cancer Syndromes?

Hereditary cancer syndromes are caused by germline mutations in cancer susceptibility genes that are transmitted in families and account for roughly five to ten percent of all cancers. Recognising these syndromes is critical because affected individuals carry lifetime risks far higher than the general population and may benefit from intensive surveillance, chemoprevention or risk reducing surgery.

Major examples include BRCA1 and BRCA2 with breast, ovarian, prostate and pancreatic risk; Lynch syndrome with colorectal, endometrial and urothelial cancer; Li Fraumeni syndrome from TP53 with sarcomas and breast cancer; and familial adenomatous polyposis or FAP from APC with polyposis and colon cancer. MEN1 and MEN2, von Hippel Lindau and Cowden syndromes complete the spectrum.

Genetic counselling and testing should be offered when family history meets criteria such as multiple early onset cancers, bilateral disease, rare tumor types or known familial mutation. Pre and post test counselling supports informed consent, family communication and surveillance planning.

Symptoms

Multiple early onset cancers in family
Bilateral or multifocal primary tumors
Rare tumors at characteristic ages
Multiple primary tumors in same person
Cancer in first or second degree relatives

Risk Factors

Known pathogenic germline mutation in family
Ashkenazi Jewish ancestry for BRCA founder
Multiple Lynch criteria such as Amsterdam
Personal history of childhood sarcoma
Polyposis on colonoscopy

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • When family history meets risk criteria
  • When known mutation is identified in relative
  • When early onset cancer occurs personally
  • When multiple primary cancers develop

Treatment Methods

01
Genetic counselling and informed testing
02
Risk based surveillance with imaging and endoscopy
03
Chemoprevention with tamoxifen or aspirin
04
Risk reducing surgery in selected carriers
05
Cascade testing of relatives
06
Reproductive counselling on options

Which Department to Visit?

You can visit our Onkoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Onkoloji Department

Let us help you

You can make an appointment with our specialists or contact us for your concerns.

Book AppointmentContact Us

Related Health Topics

Other articles from the same department you may want to explore.

Anaemia

Dahiliye (İç Hastalıkları)

Anaemia is a low haemoglobin level that reduces oxygen delivery, causing fatigue, pallor, and shortness of breath. It is not a disease itself but a sign of many underlying conditions. Most cases are correctable with appropriate diagnosis and treatment.

Iron Deficiency Anaemia

Dahiliye (İç Hastalıkları)

Iron deficiency anaemia develops when dietary intake, absorption, or losses create an iron shortfall, most often affecting women and children. Identifying the underlying cause is the core of management, alongside iron replacement.

Vitamin B12 Deficiency

Dahiliye (İç Hastalıkları)

Vitamin B12 deficiency can cause megaloblastic anaemia, neurological symptoms, and cognitive impairment. Early treatment with intramuscular or oral B12 largely prevents irreversible complications.

Hypertension (High Blood Pressure) Management

Dahiliye (İç Hastalıkları)

Hypertension is often called the silent killer because it progresses symptom-free for years and can damage the heart, brain, kidneys, and eyes. Regular monitoring, lifestyle change, and evidence-based drug therapy dramatically reduce cardiovascular risk.

Chronic Kidney Disease

Dahiliye (İç Hastalıkları)

Chronic kidney disease is one of the most common complications of chronic conditions such as diabetes and hypertension, and can be silent in its early stages.

Hepatitis B (HBV)

Dahiliye (İç Hastalıkları)

Hepatitis B is a DNA virus infection causing acute and chronic hepatitis with risk of cirrhosis and hepatocellular carcinoma; diagnosis integrates HBsAg, HBeAg, anti-HBc, and HBV DNA with management based on disease phase using nucleos(t)ide analogues (entecavir, tenofovir) and universal infant vaccination.

Hepatitis C (HCV)

Dahiliye (İç Hastalıkları)

Hepatitis C is an RNA virus causing chronic hepatitis that may progress to cirrhosis and hepatocellular carcinoma; modern direct-acting antiviral (DAA) pangenotypic regimens (sofosbuvir/velpatasvir, glecaprevir/pibrentasvir) achieve sustained virologic response over 95% in 8–12 weeks with universal adult screening and cure for nearly all patients.

Fatty Liver Disease

Dahiliye (İç Hastalıkları)

Non-alcoholic fatty liver disease (NAFLD) is closely related to obesity and metabolic syndrome and is largely reversible with early treatment.

Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.