Colon cancer genetic testing
 
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Colon cancer genetic testing

Your family history indicates a suspiscion for hereditary colorectal cancer? Genetic testing could be recommended by our specialists.

Colorectal cancer (CRC) affects 1 in 20 people during their lifetime. An estimated 25% of all CRC cases present a familial clustering of the disease suggesting a contribution of genetic factors among other risk factors, while approximately 5% of all CRC cases are purely hereditary.

Hereditary non-polyposis colorectal cancer, also known as Lynch syndrome (LS) accounts for the majority of these hereditary CRC cases (2-3% of overall CRC cases).

Clinical Indication

The CRC gene panel is recommended for patient whose diagnosis and/or family history is indicative of a suspicion of hereditary CRC. Such indications include:

Early age of cancer onset:

  • Patient diagnosed with CRC or endometrial cancer at an age < 50
  • Patient diagnosed with CRC at an age < 60 and MSI-H histology

Patient presenting multiple cumulative polyps:

  • >10 colorectal adenomatous polyps
  • Multiple gastrointestinal hamartomatous polyps

Patient with multiple related primary CRCs or other associated LS cancers

Patient fulfilling the revised Bethesda guidelines or from a family meeting the Amsterdam II criteria

Family history:

  • Patient with a family history of hereditary CRC, with or without a known mutation
  • Multiple close family members with CRC or other associated LS cancers

Test Benefits & Risk Management

The finding of a pathogenic variant will help to relate the clinical phenotype to a precise type of hereditary CRC or related syndrome for which management strategies might be available.

Management options include:

For Lynch Syndrome
Surveillance

  • Colon & rectum: Colonoscopy every 1-2 year(s), starting at age 20-25
  • Endometrium & ovary: Gynecologic cancer screening
  • Others:
    › Esophagogastroduodenoscopy (EGD) including side-viewing examination every 1-2 year(s), starting at age 30-35
    › Annual urinalysis starting at age 30-35
    › Annual physical exam including screening for skin cancers

Prophylactic Surgical Options

  • Prophylactic colectomy in young CRC patients
  • Prophylactic hysterectomy and/or bilateral salpingo-oophorectomy, after childbearing is completed

For Familial Adenomatous Polyposis (FAP)
Surveillance

  • Colon & rectum: Colonoscopy every 1-2 year(s), starting at age 10-12
  • Others:
    › EGD including side-viewing examination every 1-3 years, starting when colorectal polyposis is diagnosed or at age 20-25
    › Annual physical exam including cervical ultrasonography, starting at age 25-30

Prophylactic Surgical Options

  • Prophylactic colectomy when polyps become unmanageable

For attenuated Familial Adenomatous Polyposis (aFAP)
Surveillance

  • Colon & rectum: Colonoscopy every 2 years, starting at age 18-20
  • Others:
    › EGD including side-viewing examination every 1-3 years, starting when colorectal polyposis is diagnosed or at age 20-25
    › Annual physical exam including cervical ultrasonography, starting at age 25-30

Prophylactic Surgical Options

  • Prophylactic colectomy when polyps become unmanageable

For MUTYH-Associated Polyposis
Surveillance

  • Colon & rectum: Colonoscopy every 2 years, starting at age 18-20
  • Others:
    › EGD including side-viewing examination every 1-3 year(s), starting at age 20-25

Prophylactic Surgical Options

  • Prophylactic colectomy when polyps become unmanageable

For Peutz-Jeghers syndrome
Surveillance

  • Colon & rectum: Colonoscopy every 2-3 years, starting with symptoms or in late teens
  • Others:
    › EGD including side-viewing examination every 2-3 years, starting at age 10
    › Magnetic resonance cholangiopancreatography and/or endoscopic ultrasound of the pancreas every 1–2 years starting at age 30
    › Annual mammogram and breast MRI starting at age 25
    › Clinical breast exam starting at age 25
    › Annual pelvic examination, Pap smear and transvaginal ultrasound starting at age 18 years
    › Annual testicular exam starting at age 10

For Juvenile Polyposis syndrome
Surveillance

  • Colon & rectum: Colonoscopy every 2-3 years, starting with symptoms or in late teens
  • Others:
    › Esophagogastroduodenoscopy every 1-3 years
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