BRCA screening tools

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Twinkle Singh, M.B.B.S. [2]

Overview

Presence of potentially harmful BRCA mutations can be detected by using genetic sequencing tests. Several screening tools have been devised to identify the patients who should be referred for in depth genetic counseling and genetic testing. U.S. Preventive Services Task Force (USPSTF) evaluated few of the available screening tools which include the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool and FHS-7. Among the above mentioned tools, Referral Screening Tool and FHS-7 are the most convenient to use, however, the USPSTF did not find sufficient evidence to support one screening tool over another.

Ontario Family History Assessment Tool

Risk Factor	Points
Breast and ovarian cancer
Mother	10
Sibling	7
Second/third degree relative	5
Breast cancer relative
Parent	4
Sibling	3
Second/third degree relative	2
Male relative	2
Breast cancer characteristics
Onset at age 20-29 y	6
Onset at age 30-39 y	4
Onset at age 40-49 y	2
Premenopausal/perimenopausal	2
Bilateral/multifocal	3
Ovarian cancer relative
Mother	7
Sibling	4
Second/third degree relative	3
Age at ovarian cancer onset
<40 y	6
40-60 y	4
>60 y	2
Age at prostate cancer onset
<50 y	1
Age at colon cancer onset
<50 y	1

Patients having a total score of equal to or more than ten should be referred to genetic testing for presence of potentially harmful BRCA mutations. Lifetime risk for breast cancer doubles with a score of more than ten.