NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Nelson HD, Pappas M, Cantor A, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet]. Rockville (MD): Agency for Healthcare Research and Quality (US); 2019 Aug. (Evidence Synthesis, No. 182.)
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force [Internet].
Show detailsAppendix C1. Familial Risk Assessment Tools
Ontario Family History Assessment Tool (FHAT)118, 121–123
Referral with score ≥10 corresponds to doubling of lifetime risk for breast cancer (22%)
| Risk Factor | Points | |
|---|---|---|
| Breast and ovarian cancer | Mother Sibling 2/3rd degree relative | 10 7 5 |
| Breast cancer relatives | Parent Sibling 2/3rd degree Male relative (add to above) | 4 3 2 2 |
| Breast cancer characteristics | Onset age 20-29 Onset age 30-39 Onset age 40-49 Pre (peri) menopausal Bilateral/multifocal | 6 4 2 2 3 |
| Ovarian cancer relatives | Mother Sibling 2/3rd degree relative | 7 4 3 |
| Ovarian cancer onset age | <40 40-60 >60 | 6 4 2 |
| Prostate cancer onset | Age <50 | 1 |
| Colon cancer onset | Age <50 | 1 |
| Family Total | Referral | ≥10 |
Manchester Scoring System (MSS)111, 113, 116, 121–123
| Risk Factor (age of onset for relative in direct lineage) | BRCA 1 Score | BRCA 2 Score |
|---|---|---|
| Female breast cancer | ||
| <30 | 6 | 5 |
| 30-39 | 4 | 4 |
| 40-49 | 3 | 3 |
| 50-59 | 2 | 2 |
| ≥60 | 1 | 1 |
| Male breast cancer | ||
| <60 | 5* | 8† |
| ≥60 | 5* | 5† |
| Ovarian cancer | ||
| <60 | 8 | 5 |
| ≥60 | 5 | 5 |
| Pancreatic cancer | ||
| Pancreatic cancer | 0 | 1 |
| Prostate cancer | ||
| <60 | 0 | 2 |
| ≥60 | 0 | 1 |
| Total individual genes | 10 | 10 |
| Total for combined=15 | ||
Probability of ≥10% chance of BRCA1 or BRCA2 mutation individually or combined
Abbreviation: BRCA=breast cancer susceptibility gene
- *
If BRCA 2 tested.
- †
If BRCA 1 tested.
Referral Screening Tool (RST)114
History of breast or ovarian cancer in the family? If yes, complete checklist.
| Risk Factor | Breast cancer age ≤50 | 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 on the same side of the family | ||
| Male breast cancer at any age in any relative | ||
| Jewish ancestry |
Referral if ≥2 checks in table
Pedigree Assessment Tool (PAT)119,124
| Risk Factor | Score for every family member with breast or ovarian cancer diagnosis, including 2nd/3rd degree |
|---|---|
| Breast cancer at age ≥50 | 3 |
| Breast cancer at age <50 | 4 |
| Ovarian cancer at any age | 5 |
| Male breast cancer at any age | 8 |
| Ashkenazi Jewish heritage | 4 |
| Total |
Score ≥8 is the optimal referral threshold
Seven-question Family History Screening (FHS-7)112
| Number | Questions |
|---|---|
| 1. | Did any of your 1st degree relatives have breast or ovarian cancer? |
| 2. | Did any of your relatives have bilateral breast cancer? |
| 3. | Did any man in your family have breast cancer? |
| 4. | Did any woman in your family have breast and ovarian cancer? |
| 5. | Did any woman in your family have breast cancer before the age of 50 years? |
| 6. | Do you have 2 or more relatives with breast and/or ovarian cancer? |
| 7. | Do you have 2 or more relatives with breast and/or bowel cancer? |
One positive response initiates referral
International Breast Cancer Intervention Study Model (IBIS)117
| Number | Risk Factor |
|---|---|
| 1. | Personal history: current age, age at menopause, menarche, childbirth history, menopausal status, use of menopausal hormone therapy. |
| 2. | Personal breast history, breast density (optional), prior breast biopsy, history of cancer (breast or ovarian), genetic testing. |
| 3. | Ashkenazi inheritance |
| 4. | Family history (genetic risk) – relatives with breast or ovarian cancer, age at diagnosis, genetic testing. |
- Supplemental Materials - Risk Assessment, Genetic Counseling, and Genetic Testin...Supplemental Materials - Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA1/2-Related Cancer in Women: A Systematic Review for the U.S. Preventive Services Task Force
- LOC105922213 [Fundulus heteroclitus]LOC105922213 [Fundulus heteroclitus]Gene ID:105922213Gene
- zbtb41 [Fundulus heteroclitus]zbtb41 [Fundulus heteroclitus]Gene ID:105925189Gene
- LOC110366990 [Fundulus heteroclitus]LOC110366990 [Fundulus heteroclitus]Gene ID:110366990Gene
- LOC110366534 [Fundulus heteroclitus]LOC110366534 [Fundulus heteroclitus]Gene ID:110366534Gene
Your browsing activity is empty.
Activity recording is turned off.
See more...