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CANCER

GENETIC CANCER RISK

Female Breast

High Risk

Colorectal

Elevated Risk 

Male Breast

Elevated Risk

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CANCER TYPE

PROCEDURE

AGE TO BEGIN

FREQUENCY

Female Breast

To age 80

Up to 89%

10.2%

Second primary within 10 years of first breast cancer diagnosis

Up to 29%, or higher

4.0%

Male Breast

To age 80

0.4%-1%, or higher

0.1%

Colorectal

To age 80

Possibly elevated risk

3.0%

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CANCER TYPE

PROCEDURE

AGE TO BEGIN

FREQUENCY

Female Breast

The recommendations below were developed for women with a single CHEK2 mutation. Currently there are no specific management recommendations for breast cancer risk in women with biallelic CHEK2 mutations. However, the increased risk for breast cancer in biallelic carriers compared to monoallelic carriers warrants consideration of more aggressive management, such as starting screening at younger ages, performing screenings more frequently, and additional risk-reduction strategies.

NA

NA

Breast awareness - Women should be familiar with their breasts and promptly report changes to their healthcare provider. Periodic, consistent breast self-examination (BSE) may facilitate breast awareness.

Individualized

NA

Clinical encounter, including clinical breast exam, ongoing risk assessment and risk-reduction counseling

When genetic risk is identified

Every 6 to 12 months

Mammography with consideration of tomosynthesis and consideration of breast MRI with contrast

Age 40, or modified to a younger age based on the family history of breast cancer

Annually

Consider additional risk-reduction strategies.

Individualized

NA

Male Breast

Currently there are no specific medical management guidelines for breast cancer risk in mutation carriers. However, the increase in risk warrants consideration of options for male breast cancer screening, such as patient breast awareness education and clinical breast examinations.

Individualized

NA

Colorectal

Colonoscopy

40 years, or 10 years younger than the age of diagnosis for any first-degree relative with colorectal cancer

Every 5 years