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Cancer Genetic Counseling

Identifying hereditary cancer risk and guiding personalized screening

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 Cancer Genetic Counseling?

Genetic counseling integrates a detailed three-generation family history, personal medical history, and risk modeling to identify families likely to carry a hereditary cancer syndrome. About five to ten percent of cancers are hereditary in this sense — caused by a single high-penetrance pathogenic variant in genes such as BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2 (Lynch syndrome), TP53 (Li-Fraumeni), APC (FAP), or PALB2 and ATM.

Indications for referral include early-onset cancer (breast under 50, colorectal under 50), multiple primary cancers, rare cancers (male breast, ovarian, pancreatic), several relatives on the same side of the family with related cancers, or a known pathogenic variant in the family. Pretest counseling explains test options (multigene panel, single-gene, BRCA-only), interpretation of variants, and implications for relatives.

Results have direct clinical implications. BRCA carriers may benefit from earlier and more intensive breast and ovarian screening, risk-reducing mastectomy and oophorectomy, and PARP inhibitor therapy. Lynch syndrome triggers early colonoscopy, endometrial surveillance, and aspirin chemoprevention. Cascade testing of relatives multiplies the value of a single positive result and is a core counseling responsibility.

Symptoms

Cancer at unusually young age in self or relative
Multiple primary cancers in a single person
Several relatives with the same or related cancers
Rare cancers (male breast, ovarian, pancreatic)
Known pathogenic variant in a family member
Specific tumor pathology suggesting hereditary syndrome

Risk Factors

First-degree relative with early-onset cancer
Ashkenazi Jewish ancestry (founder BRCA mutations)
Familial adenomatous polyposis or many colon polyps
Endometrial cancer at young age (Lynch syndrome)
Triple-negative breast cancer at young age (BRCA risk)

When to See a Doctor?

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

  • Cancer in a first-degree relative under age 50
  • Multiple cancers in the same person or close relatives
  • Known mutation in the family
  • Personal cancer diagnosis with hereditary features

Treatment Methods

01
Three-generation family history and risk modeling
02
Pretest counseling and informed consent
03
Multigene panel or syndrome-targeted testing
04
Individualized screening plan after positive result
05
Risk-reducing surgery for selected high-risk syndromes
06
PARP inhibitors and immunotherapy in eligible mutation carriers
07
Cascade testing of at-risk relatives

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.

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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.