CANCER
GENETIC CANCER RISK
Female Breast
High Risk
Colorectal
Elevated Risk
Male Breast
Elevated Risk
CANCER TYPE
AGE RANGE
CANCER RISK
RISK FOR GENERAL POPULATION
Female Breast
To age 80
Up to 89%
10.7%
Second primary within 10 years of first breast cancer diagnosis
7%-29%, or higher
3.5%
Male Breast
To age 80
0.4%-1%, or higher
0.1%
Colorectal
To age 80
Possibly elevated risk
2.8%
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, but not before age 21
Every 6 to 12 months
Mammography
Age 40, or modified to a younger age based on the family history of breast cancer
Annually
Consider breast MRI with contrast
30 to 35 years, 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
For Patients With A Cancer Diagnosis
For patients with a gene mutation and a diagnosis of cancer, targeted therapies may be available as a treatment option for certain tumor types (e.g., PARP-inhibitors).
NA
NA