A model and software for genetic counseling
of women at high risk
of hereditary breast and ovarian cancer
"Probability of carrying a mutation of breast-ovarian cancer gene BRCA1
based on family history"
DA Berry, G Parmigiani, J Sanchez, J
Schildkraut and E Winer. JNCI, 89(3) 227-238.
"Determining Carrier Probabilities for Breast Cancer Susceptibility
Genes BRCA1 and BRCA2"
G Parmigiani, DA Berry and O Aguilar.
Am. J. Hum. Genet., 62:145-158, 1998.
"BRCAPRO Validation, Sensitivity of Genetic Testing of BRCA1/BRCA2,
and Prevalence of Other Breast Cancer Susceptibility Genes"
Donald A. Berry, Edwin S Iversen Jr, Daniel F. Gudbjartsson,
Elaine H. Hiller, Judy E. Garber, Beth N. Peshkin, Caryn Lerman,
Patrice Watson, Henry T. Lynch, Susan G. Hilsenbeck, Wendy
S. Rubinstein, Kevin S. Hughes, Giovanni Parmigiani
Journal of Clinical Oncology.
"Modeling risk of breast cancer and decisions
about genetic testing"
G Parmigiani, DA Berry, EI Iversen Jr, P
Mueller, J Schildkraut and E Winer.
"Genetic Susceptibility and Survival: Application to Breast Cancer"
EI Iversen Jr, G Parmigiani, DA Berry and J Schildkraut.
"Validating Bayesian Prediction Models: a Case Study in Genetic Susceptibility to Breast Cancer"
Edwin Iversen Jr., Giovanni Parmigiani and Donald Berry.
"Validity testing of a computer model for calculating carrier
probabilities of BRCA1 and BRCA2 mutations" ASHG abstract by Hiller
"Ten Best Readings on Breast Cancer" (including BRCAPRO!).
"Overheads from a recent presentation on BRCAPRO".
can download a utility to create the
input files required by BRCAPRO.
CAGene is a user-friendly PC-based program developed by David Euhus at
U.T. Southwestern Center for Breast Care. It includes the BRCAPRO model
as well as alternative models proposed in the literature. It is packaged
with a user friendly pedigree-entry questionnaire, pedigree drawing, and
data-base utilities. It works on Windows 95 and higher. There is also a
CancerGene Website with additional
information. To request the program:
1) Download the "licensing agreement"
2) Mail a signed copy to
to expedite things you can send a fax (214-648-7965), but we'll eventually need
a real signature.
3) Wait for an email including the program as an attached file.
Users that obtained copies before April 26, 1999 can download an updated
copy of CaGene.exe from the FTP-SITE and replace their current version (found in
the "Care" folder). In the old version, there is a rare combination of
breast cancer ages that can cause a crash in the Claus model module.
- David Euhus,
- Assistant Professor,
- Division of Surgical Oncology,
- Department of Surgery,
- UT Southwestern Medical Center at Dallas,
- 5323 Harry Hines Boulevard MC 9155,
- Dallas, Texas 75235-9155
MANUAL for the unix prototype program, as
"PDF (Acrobat readable)"
Default input files
rates.aj.dat for Ashkenazi families and
rates.non.dat for others. Aug 10, 2000.
Reduced penetrance input files
rates.aj.5.dat for Ashkenazi families and
rates.non.5.dat for others. These are obtained from the ones above,
by multiplying all penetrances by 1/2. Aug 10, 2000.
Penetrance/prevalence input files corresponding to the Claus model rates.claus.dat . Oct 7, 1998.
Penetrance/prevalence input files with constant relative risk
rates.aj.airr.dat for Ashkenazi families and
rates.non.airr.dat for others. Aug 10, 2000.
Information for Patients
The Mid-Atlantic Cancer Genetics Network
If you have difficulties downloading postscript files, please
follow this link for help.
Back to Giovanni Parmigiani's homepage.
Logo by Luca Parmigiani.