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Hereditary Cancer and Genetic Testing

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    A Family Guide to Risk prevention and Informed Decisions

    Cancer is common, but hereditary cancer is relatively rare though very important to identify. Only about 5–10% of cancers occur due to inherited gene mutations passed down through families. Recognizing families with this risk helps doctors detect cancer earlier and, in some cases, even prevent it.

    Understanding Genetic Vs Non-Genetic Cancer

    Most cancers develop due to aging, lifestyle, environmental exposure, or random cell changes. These are not inherited.
    Hereditary cancers occur when a person is born with a mutation in a protective gene, such as:

    BRCA1 / BRCA2 – breast, ovarian, prostate, pancreatic cancers
    TP53 – Li-Fraumeni syndrome (multiple early cancers)
    MLH1, MSH2, MSH6, PMS2 – Lynch syndrome
    APC – familial adenomatous polyposis
    RET – medullary thyroid cancer

    These genes normally act as safety systems. When altered, cancer risk increases — but cancer is still not guaranteed.

    Family Scenarios: Do You Recognize Your Story?

    A Public Example: Preventive Surgery

    When actress Angelina Jolie publicly shared her BRCA1 mutation and decision to undergo preventive mastectomy and later preventive oophorectomy, it brought global attention to hereditary cancer prevention.
    Her case illustrates that:

    Genetic testing can identify high risk
    Preventive surgery can dramatically reduce cancer risk
    The decision must be personal, informed, and medically guided

    Not every mutation carrier requires surgery, but for selected individuals, risk-reducing mastectomy or removal of ovaries can reduce cancer risk by over 90%.

    Preventive Options in Hereditary Cancer

    If a mutation is identified, management may include:

    Enhanced Surveillance

    Earlier and more frequent screening such as MRI breast, colonoscopy, thyroid ultrasound, or PSA testing depending on gene type.

    Risk-Reducing Medication

    Certain medications may reduce breast cancer risk in selected patients.

    Preventive Surgery

    Bilateral risk-reducing mastectomy
    Risk-reducing salpingo-oophorectomy (ovary removal)
    Prophylactic colectomy in familial polyposis

    These decisions depend on age, mutation type, and personal preference.

    Hereditary Cancer and Genetic Testing

    Genetic Counselling and Hereditary Risk Assessment

    We evaluate patients with:

    Early-onset cancers
    Strong family history
    Multiple cancers in the same individual
    Breast–ovarian clustering
    Colorectal cancer patterns

    Where indicated:

    Gene panel testing (including BRCA and relevant markers)
    Risk stratification
    Family counselling
    Preventive surveillance planning

    Genetics influences both treatment and long-term family health planning.