Colon cancer genetic testing
 
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Genetic testing for colorectal cancer

Date: 03/10/2016
Last edited: 30/08/2021

If you have a history of colorectal cancer in your family, we recommend a genetic test to see if you are at risk for the disease.

Statistically, colorectal cancer affects one in 20 people. About 25% have a family history of recurrent cases of the disease. However, in addition to hereditary predisposition, the influence of many other factors besides genetics cannot be discounted. And only 5% of all cases can be considered directly hereditary.

Lynch syndrome is considered a hereditary nonpolyposis colon cancer. And it accounts for the majority of genetically determined colorectal cancer cases (2-3% of all cases).

Who is recommended to have a genetic test for colorectal cancer?

A person whose family history suggests a predisposition to the development of genetically determined colorectal cancer. These factors include :

A family history of early onset :

  • Colorectal or endometrial cancer before the age of 50
  • Colorectal cancer before the age of 60 and high frequency microsatellite instability on histological analysis

Multiple polyps in the colon :

  • Colorectal adenomatous polyps (if more than 10)
  • Gamartoma gastrointestinal polyposis

Family history :

  • Patient whose close family members include several people with colorectal cancer or Lynch Syndrome.

Benefits of genetic tests to reduce risk:

Determining the right strategy to control or even manage the disease is possible. First, we need to obtain reliable clinical data, namely to determine the presence of a pathogenic mutation to link the clinical phenotype to a specific type of genetically determined colorectal cancer or associated syndrome.

 

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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