BRCA screening tools

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

Overview

The presence of potentially harmful BRCA mutations can be detected by using genetic sequencing tests. Several screening tools have been developed for primary care providers in order to identify women at high risk of breat cancer and who should be referred for in depth genetic counseling and genetic testing. The 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.[1] The National Institute of Health's tool, http://www.cancer.gov/bcrisktool/ , is also easy to use but the USPSTF advises that this tool was not designed to direct BRCA screening.

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.[1][2]

Manchester Scoring System

Risk Factor BRCA 1 Score BRCA 2 Score
Age at onset of female breast cancer
<30 y 6 5
30-39 y 4 4
40-49 y 3 3
50-59 y 2 2
>60 y 1 1
Age at onset of male breast cancer
<60 y 5 8
>60 y 5 5
Age at onset of ovarian cancer
<60 y 8 5
Pancreatic Cancer
0 1
Age at onset of prostate cancer
<60 y 0 2
>60 y 0 1

A score of 10 in any of the columns or a total score of 15 in both the columns is equal to a 10% chance of BRCA 1 or BRCA 2 mutation.[3]

Referral Screening Tool

Risk Factor Breast Cancer at Age <50 y Ovarian Cancer at Any Age
Yourself
Mother
Sister
Daughter
Mother's side
Grandmother
Aunt
Father's side
Grandmother
Aunt
>2 cases of breast cancer after age 50 y
on the same side of the family
Male breast cancer at any age
in any again any relative
Jewish ancestry

A patient is required to complete the checklist only if she has any family history of breast or ovarian cancer. Patient is positive for screening and is referred for genetic counseling if 2 or more items in the above list are checked.[4]

Pedigree Assessment Tool

Risk Factor Score
Breast cancer at age 50y or >50 y 3
Breast cancer at age < 50 4
Ovarian cancer at any age 5
Male breast cancer at any age 8
Ashkenazi jewish heritage 4

Score is given for every family member including second or third degree relative with a history of breast or ovarian cancer. Referral to genetic counseling is done with a score equal to or more than 8.[5]

FHS-7

Following questions should be asked in order to screen patients for presence of potentially harmful BRCA mutations:

  • Did any of your first degree relatives have breast or ovarian cancer?
  • Did any of your relatives have bilateral breast cancer?
  • Did any man in your family have breast cancer?
  • Did any woman in your family have breast and ovarian cancer?
  • Did any woman in your family have breast cancer before age of 50 years?
  • Do you have 2 or more relatives with breast and/or ovarian cancer?
  • Do you have 2 or more relatives with breast and/or bowel cancer?

Refer to genetic counseling with one or more positive response.[6]

References

  1. 1.0 1.1 Moyer VA (2013). "Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: U.S. Preventive Services Task Force Recommendation Statement". Ann Intern Med. doi:10.7326/M13-2747. PMID 24366376.
  2. Gilpin CA, Carson N, Hunter AG (2000). "A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center". Clin Genet. 58 (4): 299–308. PMID 11076055.
  3. Evans DG, Eccles DM, Rahman N, Young K, Bulman M, Amir E; et al. (2004). "A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO". J Med Genet. 41 (6): 474–80. PMC 1735807. PMID 15173236.
  4. Bellcross CA, Lemke AA, Pape LS, Tess AL, Meisner LT (2009). "Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population". Genet Med. 11 (11): 783–9. doi:10.1097/GIM.0b013e3181b9b04a. PMID 19752737.
  5. Hoskins KF, Zwaagstra A, Ranz M (2006). "Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening". Cancer. 107 (8): 1769–76. doi:10.1002/cncr.22202. PMID 16967460.
  6. Ashton-Prolla P, Giacomazzi J, Schmidt AV, Roth FL, Palmero EI, Kalakun L; et al. (2009). "Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care". BMC Cancer. 9: 283. doi:10.1186/1471-2407-9-283. PMC 2739222. PMID 19682358.

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