Genetics and Hereditary Cancers
Identification of High-Risk Patients
Genetic counseling and testing can have significant implications for patient care in the oncology setting, but identifying patients who may benefit from these services remains a challenge. This section includes resources to help clinicians determine which patients require further genetic evaluation.
Ask2Me: Ask2Me is a risk calculator developed by the Hughes Lab at Massachusetts General Hospital and the Bayes Mendel Lab at the Dana Farber Cancer Institute. The risk calculator uses clinical history to estimate cancer risks for patients with certain gene mutations associated with hereditary cancer.
Assess Your Risk: AssessYourRisk was developed by Bright Pink and uses personal risk factors and family history of cancer to determine a woman’s risk for developing breast and ovarian cancer along with a “personalized prevention plan”.
Breast Cancer Risk Assessment Tool: This calculator was developed by the National Cancer Institute and uses relevant medical history, reproductive history and relevant family history of cancer to estimate a woman’s risk for developing invasive breast cancer. Learn more about the Breast Cancer Risk Assessment Tool.
CancerGene with BRCAPRO, MMRPro, PancPRO and MelaPRO: CancerGene with BRCAPRO, MMRPro, PancPRO and MelaPRO is a risk calculator developed by UT Southwestern Medical Center and The BayesMendel Group. The various models assess for BRCA1 and BRCA2 gene mutation probabilities, MLH1, MSH2 and MSH6 gene mutation probabilities, pancreas cancer gene mutation probability, and age-specific breast, ovarian, colorectal, endometrial, and pancreatic cancer probabilities. Learn more about CancerGene.
Claus Breast Cancer Risk Calculator: The Claus model was developed by the Yale University School of Medicine and uses personal and family history of breast cancer to estimate a woman’s breast cancer risks.
Learn more about the Claus model by accessing the following articles:
- Claus EB, Risch N, Thompson WD: Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet 1991, 48:232-242.
- Claus EB, Risch N, Thompson WD: The calculation of breast cancer risk for women with a first degree family history of ovarian cancer. Breast Cancer Res Treat 1993, 28:115–120.
Cleveland Clinic Colon Cancer Risk Assessment: Risk calculator that assesses lifestyle factors and personal/family history of colon polyps and colon cancer to provide a colon cancer risk estimate and personalized screening recommendations, which should be discussed with a health care provider.
IBIS Breast Cancer Risk Evaluation Tool (Tyrer-Cuzick): Tyrer-Cuzick was developed by Wolfson Institute of Preventive Medicine, Queen Mary University of London and estimates a woman’s likelihood of developing breast cancer. Learn more about IBIS Breast Cancer Risk Evaluation Tool (Tyrer-Cuzick).
MMRPredict: MMRPredict, developed by the Colon Cancer Genetics Group at University of Edinburgh and MRC Human Genetics Unit in Edinburgh, assesses the mutation probability for MLH1, MSH2 and MSH6 in two stages based on an individual’s clinical information and tumor molecular diagnostic information.
Myriad Hereditary Cancer Quiz: This quiz developed by Myriad Genetics, Inc. helps identify patients who require genetic testing for hereditary breast, ovarian, colon, uterine, and pancreatic cancers based on personal and family history of cancer.
PENNII Model: The PENNII model, developed by the Basser Center for BRCA (University of Pennsylvania) estimates the likelihood that an individual or a family carries a mutation in the BRCA1 or BRCA2 gene.
PREMM5 Lynch Syndrome Prediction Model: The PREMM5 model, developed by scientists at Columbia University Medical Center, Harvard, Brigham and Women’s Hospital, and University Medical Center Rotterdam, estimates the mutation probability for MLH1, MSH2, MSH6, PMS2, and EPCAM using personal and family history of cancer. Learn more about the PREMM5 Lynch Syndrome Prediction Model.
UT Southwestern Genetics and Hereditary Cancers Risk Quiz: This quiz was developed by the UT Southwestern Cancer Genetics program and uses personal and family history of cancer to help identify patients who need further evaluation for Hereditary Breast and Ovarian Cancer syndrome (HBOC) associated with mutations in the BRCA1 and BRCA2 genes, and Lynch syndrome, associated with mutations in MLH1, MSH2, MSH6, PMS2 and EPCAM. HBOC and Lynch syndrome are the two most common hereditary cancer syndromes.
Last updated April 2020