Several prediction models and clinical criteria are available to assist the clinician in determining which patients should undergo genetic testing. The information provided by the models should not be interpreted as guidance to limit the consideration of additional counseling or testing to only those identified as having higher risk.
Breast Cancer Risk Assessment Tool
An interactive tool designed by scientists at the National Cancer Institute (NCI) and the National Surgical Adjuvant Breast and Bowel Project (NSABP) to estimate a woman's risk of developing invasive breast cancer.
Windows-based program to estimate the likelihood of a cancer-predisposing gene.
Cleveland Clinic's Genomic Medicine Institute Risk Calculator for PTEN Mutation
PTEN gene (Cowden /PTEN hamartoma syndrome) probability calculator
Dana Farber PREMM Prediction Model
PREMM1,2,6 gives the probability of MLH1,MSH2, or MSH6 mutation
Cancer risk assessment software
IBIS Breast Cancer Risk Evaluation Tool
Breast cancer and BRCA1/2 probability evaluation for women who have not had breast cancer
Memorial Sloan Kettering's Breast Cancer Nomograms
These breast cancer nomograms can be used to calculate: (1) the likelihood that breast cancer has spread to the sentinel lymph nodes (Sentinel Lymph Nodes Metastasis Nomogram); (2) the likelihood that breast cancer that has spread to the sentinel lymph nodes, under the arm, has also spread to additional non-sentinel lymph nodes under the arm (Additional Nodal Metastasis Nomogram); and (3) the chance of breast cancer recurring in the same breast after receiving breast-conserving surgery for ductal carcinoma in situ (DCIS).
Myriad BRCA Risk Calculator
Myriad risk assessment tables for BRCA1/2 probabilities
Myriad Risk Assessment Tables for MLH1/MSH2
Provides prevalance data representing the observations of deleterious mutations in the MLH1 and MSH2 genes by Myriad Genetic Laboratories.
NCI Breast Cancer Risk Assessment Tool
Gail model for 5 year and lifetime risk of breast cancer.
The Penn II BRCA1 and BRCA2 Mutation Risk Evaluation Model
Penn II model gives probability of BRCA1/2 mutation
Stanford Decision Tool for Women with BRCA Mutations
A BRCA decision tool which calculates the probability of health outcomes for women ages 25-69 who carry a BRCA1 or BRCA2 mutations, and who have never had the following: 1) cancer; 2) screening mammograms or magnetic resonance imaging; 3) preventive surgery to remove breasts, ovaries or fallopian tubes; and/or 4) preventive medications such as tamoxifen or raloxifene.
USPSTF Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Systematic Review to Update the U.S. Preventive Services Task Force Recommendation
Appendix C5 includes five simple risk assessment models: Ontario Family History Risk Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, and Family History Screen 7 (FHS-7).