BRCAPRO 6.0 model validation in male patients presenting for BRCA testing

Zahi Mitri, Michelle Jackson, Carolyn Garby, Juhee Song, Sharon H. Giordano, Gabriel N. Hortobágyi, Claire N. Singletary, S. Shahrukh Hashmi, Banu K. Arun, Jennifer K. Litton

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Background. BRCAPRO is a risk assessment model to estimate the risk of carrying a BRCA mutation. BRCA mutation carriers are at higher riskof developing breast, ovarian, pancreatic, and prostate cancer. BRCAPRO was developed for women and found to be superior to other risk assessment models. The present study evaluated the validity of BRCAPRO at predicting the risk of male patients carrying a BRCA mutation. Patients and Methods. A total of 146 men who presented for genetic counseling and testing from February1997 to September 2011, and their test results were included in the present study. BRCAPRO risk assessment for all patients was calculated using the BRCAPRO clinical CancerGene assessment software. Results. The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34%) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2).The mean BRCAPRO score for all patients was 24.96%.The BRCAPRO score was significantly higher for patients who tested positive foraBRCA mutation (46.19% vs. 13.9%,p<.01).The area under the receiver operating characteristics curve was 0.83 for all patients for the BRCAPRO score to predict the risk of carrying a BRCA mutation. At a cutoff point of 30.02%, the sensitivity, specificity, positive predictive value, and negative predictive value were 0.74, 0.81, 0.67, and 0.86, respectively. Conclusion. BRCAPRO appears to be a valid risk assessment tool for determining the risk of carrying a BRCA mutation in men. The Oncologist.

Original languageEnglish (US)
Pages (from-to)593-597
Number of pages5
JournalOncologist
Volume20
Issue number6
DOIs
StatePublished - 2015
Externally publishedYes

Fingerprint

Mutation
Pancreatic Neoplasms
Prostatic Neoplasms
Breast Neoplasms
Genetic Counseling
Genetic Testing
ROC Curve
Ovarian Neoplasms
Neoplasms
Software
Sensitivity and Specificity

Keywords

  • BRCA
  • BRCAPRO
  • Cancer genetics
  • Genetic counseling
  • Male breast cancer
  • Risk models

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Mitri, Z., Jackson, M., Garby, C., Song, J., Giordano, S. H., Hortobágyi, G. N., ... Litton, J. K. (2015). BRCAPRO 6.0 model validation in male patients presenting for BRCA testing. Oncologist, 20(6), 593-597. https://doi.org/10.1634/theoncologist.2014-0425

BRCAPRO 6.0 model validation in male patients presenting for BRCA testing. / Mitri, Zahi; Jackson, Michelle; Garby, Carolyn; Song, Juhee; Giordano, Sharon H.; Hortobágyi, Gabriel N.; Singletary, Claire N.; Hashmi, S. Shahrukh; Arun, Banu K.; Litton, Jennifer K.

In: Oncologist, Vol. 20, No. 6, 2015, p. 593-597.

Research output: Contribution to journalArticle

Mitri, Z, Jackson, M, Garby, C, Song, J, Giordano, SH, Hortobágyi, GN, Singletary, CN, Hashmi, SS, Arun, BK & Litton, JK 2015, 'BRCAPRO 6.0 model validation in male patients presenting for BRCA testing', Oncologist, vol. 20, no. 6, pp. 593-597. https://doi.org/10.1634/theoncologist.2014-0425
Mitri, Zahi ; Jackson, Michelle ; Garby, Carolyn ; Song, Juhee ; Giordano, Sharon H. ; Hortobágyi, Gabriel N. ; Singletary, Claire N. ; Hashmi, S. Shahrukh ; Arun, Banu K. ; Litton, Jennifer K. / BRCAPRO 6.0 model validation in male patients presenting for BRCA testing. In: Oncologist. 2015 ; Vol. 20, No. 6. pp. 593-597.
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abstract = "Background. BRCAPRO is a risk assessment model to estimate the risk of carrying a BRCA mutation. BRCA mutation carriers are at higher riskof developing breast, ovarian, pancreatic, and prostate cancer. BRCAPRO was developed for women and found to be superior to other risk assessment models. The present study evaluated the validity of BRCAPRO at predicting the risk of male patients carrying a BRCA mutation. Patients and Methods. A total of 146 men who presented for genetic counseling and testing from February1997 to September 2011, and their test results were included in the present study. BRCAPRO risk assessment for all patients was calculated using the BRCAPRO clinical CancerGene assessment software. Results. The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34{\%}) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2).The mean BRCAPRO score for all patients was 24.96{\%}.The BRCAPRO score was significantly higher for patients who tested positive foraBRCA mutation (46.19{\%} vs. 13.9{\%},p<.01).The area under the receiver operating characteristics curve was 0.83 for all patients for the BRCAPRO score to predict the risk of carrying a BRCA mutation. At a cutoff point of 30.02{\%}, the sensitivity, specificity, positive predictive value, and negative predictive value were 0.74, 0.81, 0.67, and 0.86, respectively. Conclusion. BRCAPRO appears to be a valid risk assessment tool for determining the risk of carrying a BRCA mutation in men. The Oncologist.",
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AU - Hortobágyi, Gabriel N.

AU - Singletary, Claire N.

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N2 - Background. BRCAPRO is a risk assessment model to estimate the risk of carrying a BRCA mutation. BRCA mutation carriers are at higher riskof developing breast, ovarian, pancreatic, and prostate cancer. BRCAPRO was developed for women and found to be superior to other risk assessment models. The present study evaluated the validity of BRCAPRO at predicting the risk of male patients carrying a BRCA mutation. Patients and Methods. A total of 146 men who presented for genetic counseling and testing from February1997 to September 2011, and their test results were included in the present study. BRCAPRO risk assessment for all patients was calculated using the BRCAPRO clinical CancerGene assessment software. Results. The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34%) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2).The mean BRCAPRO score for all patients was 24.96%.The BRCAPRO score was significantly higher for patients who tested positive foraBRCA mutation (46.19% vs. 13.9%,p<.01).The area under the receiver operating characteristics curve was 0.83 for all patients for the BRCAPRO score to predict the risk of carrying a BRCA mutation. At a cutoff point of 30.02%, the sensitivity, specificity, positive predictive value, and negative predictive value were 0.74, 0.81, 0.67, and 0.86, respectively. Conclusion. BRCAPRO appears to be a valid risk assessment tool for determining the risk of carrying a BRCA mutation in men. The Oncologist.

AB - Background. BRCAPRO is a risk assessment model to estimate the risk of carrying a BRCA mutation. BRCA mutation carriers are at higher riskof developing breast, ovarian, pancreatic, and prostate cancer. BRCAPRO was developed for women and found to be superior to other risk assessment models. The present study evaluated the validity of BRCAPRO at predicting the risk of male patients carrying a BRCA mutation. Patients and Methods. A total of 146 men who presented for genetic counseling and testing from February1997 to September 2011, and their test results were included in the present study. BRCAPRO risk assessment for all patients was calculated using the BRCAPRO clinical CancerGene assessment software. Results. The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34%) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2).The mean BRCAPRO score for all patients was 24.96%.The BRCAPRO score was significantly higher for patients who tested positive foraBRCA mutation (46.19% vs. 13.9%,p<.01).The area under the receiver operating characteristics curve was 0.83 for all patients for the BRCAPRO score to predict the risk of carrying a BRCA mutation. At a cutoff point of 30.02%, the sensitivity, specificity, positive predictive value, and negative predictive value were 0.74, 0.81, 0.67, and 0.86, respectively. Conclusion. BRCAPRO appears to be a valid risk assessment tool for determining the risk of carrying a BRCA mutation in men. The Oncologist.

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