The Penn II Risk Model, BRCA 1 and BRCA 2 Mutation Predictor

What is the Penn II Model?

This model can be used to predict the pre-test probability (prior probability) that a person has a BRCA1 or BRCA2 mutation. Other models exist, which may provide different estimates.
This model does not predict breast cancer risk. It focuses only on the chance that an individual has inherited a mutation in BRCA1 or BRCA2.
Decisions regarding genetic testing typically include consideration of personal and family history of cancer, national and/or professional group recommendations (e.g., NCCN, USPSTF), insurance criteria and/or patient preferences, in addition to pre-test probability estimates such as provided by this model.
The Penn II Risk Model is an empirical model validated in families with multiple cases of breast and/or ovarian cancer. All families included in the model development had two or more individuals affected with either breast and/or ovarian cancer and one affected individual had to be a first, second or third degree relative of the other affected individual. As such, results in families with single cases of breast or ovarian cancer need to be interpreted with caution. This model was not designed to determine eligibility for multi-gene panel testing for hereditary cancer risk, rather the prior probability that an individual has a BRCA1 or BRCA2 pathogenic variant.

References:
Lindor, N.M., Johnson, K.J., Harvey, H. et al. Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study. Familial Cancer 9, 495-502 (2010) https://doi.org/10.1007/s10689-010-9348-3
Panchal, S.M., Ennis, M., Canon, S. et al. Selecting a BRCA risk assessment model for use in a familial cancer clinic. BMC Med Genet 9, 116 (2008). https://doi.org/10.1186/1471-2350-9-116

Instructions for use

Family history of cancer should be restricted to first-, second- and third-degree relatives.
A single lineage in the family should be used. If there is cancer history on both maternal and paternal sides of the family, then each side of the family should be evaluated separately.
Since this model depends on the accuracy of the family history, attempts should be made to confirm cancer with pathology reports, especially for cases of ovarian cancer.
Further information can be found by moving the cursor over the icon.

Part A. Select the side of the family being evaluated: Maternal Paternal
Part B. Please provide the following information:
1.	Presence of Ashkenazi (Eastern European) Jewish ancestry in the family?	no yes
2.	Number of women in the family diagnosed with both breast and ovarian cancer?	(0-100)
3.	Number of women in the family diagnosed with ovarian, fallopian tube, or primary peritoneal cancer (in the absence of breast cancer)?	(0-100)
4.	Number of breast cancer cases in the family diagnosed in women under the age of 50?	(0-100)
5.	What is the age of the youngest breast cancer diagnosis in the family?	(18-130)
6.	Presence of mother-daughter breast cancer diagnoses in the family?	no yes
7.	How many women with bilateral breast cancer in the family? (Note: Count women with cancer in both breasts, not two primaries in one breast.)	(0-100)
8.	Number of men diagnosed with breast cancer in the family?	(0-100)
9.	Presence of pancreatic cancer in the family?	no yes
10.	Number of men diagnosed with prostate cancer in the family?	(0-100)
Part C. Closest relative with breast or ovarian Cancer:
Part D. Patient Information (Optional - For use on printable report only):
1.	Patient's first name
2.	Patient's last name
3.	Patient's age
4.	Clinic location