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Germline BRCA Testing in Genetic Oncology

Identification of hereditary breast and ovarian cancer syndrome with implications for cancer prevention and treatment

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 Germline BRCA Testing in Genetic Oncology?

BRCA1 and BRCA2 are tumor suppressor genes encoding proteins involved in DNA double-strand break repair through homologous recombination.

Pathogenic variants confer significantly elevated lifetime risks of breast cancer (50-85%), ovarian cancer (15-65%), pancreatic cancer and other cancers.

Founder mutations exist in specific populations including Ashkenazi Jewish founder mutations.

Testing involves DNA sequencing of full BRCA1 and BRCA2 genes with deletion/duplication analysis.

Variants of uncertain significance require careful interpretation and may be reclassified as additional data accumulates.

Symptoms

Personal or family history features including young-onset breast or ovarian cancer suggest BRCA mutation.
Multiple primary cancers in single individual or close relatives raise mutation suspicion.
Triple-negative breast cancer at any age suggests possible BRCA1 mutation.
Male breast cancer suggests BRCA2 mutation in many cases.
Pancreatic, prostate or other cancers in family pedigree contribute to mutation likelihood.

Risk Factors

Personal history of breast cancer particularly at young age, bilateral or triple-negative.
Personal history of ovarian, fallopian tube or primary peritoneal cancer at any age.
Family history of breast cancer at age less than 50 or ovarian cancer at any age.
Ashkenazi Jewish ancestry with founder mutation prevalence.
Family history of male breast cancer, pancreatic cancer, prostate cancer (Gleason ≥7) or other BRCA-associated cancers.

When to See a Doctor?

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

  • Personal or family history meeting criteria for genetic testing warrants genetic counseling referral.
  • Newly diagnosed cancer with BRCA-associated features may benefit from testing for treatment selection.
  • Family member identified with BRCA mutation warrants cascade testing for at-risk relatives.
  • Reproductive planning including preimplantation genetic diagnosis options requires genetic consultation.
  • Decision regarding prophylactic surgeries (mastectomy, salpingo-oophorectomy) requires comprehensive counseling.

Treatment Methods

01
Comprehensive genetic counseling before testing including risk assessment, testing options, results implications and family communication.
02
Multi-gene panel testing increasingly used to evaluate multiple hereditary cancer syndrome genes simultaneously.
03
Cascade testing for at-risk family members after pathogenic variant identification in proband.
04
Risk reduction strategies including enhanced screening (breast MRI, mammography), chemoprevention (tamoxifen, aromatase inhibitors) and prophylactic surgeries.
05
Treatment implications including PARP inhibitors for BRCA-associated cancers, platinum sensitivity in ovarian cancer, immunotherapy considerations along with multidisciplinary care including genetic counseling, oncology, surgery, gynecology, psychiatry and reproductive endocrinology optimizes management of this hereditary syndrome.

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.

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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.