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Maxwell KN, Wenz BM, Kulkarni A, et al. Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers. JCO Precis Oncol. 2020;4doi: 10.1200/PO.19.00301.
Maxwell, K. N., Wenz, B. M., Kulkarni, A., Wubbenhorst, B., D'Andrea, K., Weathers, B., Goodman, N., Vijai, J., Lilyquist, J., Hart, S. N., Slavin, T. P., Schrader, K. A., Ravichandran, V., Thomas, T., Hu, C., Robson, M. E., Peterlongo, P., Bonanni, B., Ford, J. M., Garber, J. E., Neuhausen, S. L., Shah, P. D., Bradbury, A. R., DeMichele, A. M., Offit, K., Weitzel, J. N., Couch, F. J., Domchek, S. M., & Nathanson, K. L. (2020). Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers. JCO precision oncology, 4. https://doi.org/10.1200/PO.19.00301
Maxwell, Kara N, et al. "Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers." JCO precision oncology vol. 4 (2020). doi: https://doi.org/10.1200/PO.19.00301
Maxwell KN, Wenz BM, Kulkarni A, Wubbenhorst B, D'Andrea K, Weathers B, Goodman N, Vijai J, Lilyquist J, Hart SN, Slavin TP, Schrader KA, Ravichandran V, Thomas T, Hu C, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Neuhausen SL, Shah PD, Bradbury AR, DeMichele AM, Offit K, Weitzel JN, Couch FJ, Domchek SM, Nathanson KL. Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers. JCO Precis Oncol. 2020 Aug 19;4. doi: 10.1200/PO.19.00301. eCollection 2020. PMID: 32954205; PMCID: PMC7496037.
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JCO Precis Oncol. 2020 Aug 19;4. doi: 10.1200/PO.19.00301. eCollection 2020.

Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers.

JCO precision oncology

Kara N Maxwell, Brandon M Wenz, Abha Kulkarni, Bradley Wubbenhorst, Kurt D'Andrea, Benita Weathers, Noah Goodman, Joseph Vijai, Jenna Lilyquist, Steven N Hart, Thomas P Slavin, Kasmintan A Schrader, Vignesh Ravichandran, Tinu Thomas, Chunling Hu, Mark E Robson, Paolo Peterlongo, Bernardo Bonanni, James M Ford, Judy E Garber, Susan L Neuhausen, Payal D Shah, Angela R Bradbury, Angela M DeMichele, Kenneth Offit, Jeffrey N Weitzel, Fergus J Couch, Susan M Domchek, Katherine L Nathanson

Affiliations

  1. Department of Medicine, Division of Hematology-Oncology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  2. Basser Center for BRCA and Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  3. Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
  4. Clinical Genetics Research Laboratory, Department of Medicine and Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY.
  5. Health Sciences Research, Mayo Clinic, Rochester, MN.
  6. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  7. Department of Medical Oncology, Division of Clinical Cancer Genetics, City of Hope, Duarte, CA.
  8. Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA.
  9. Department of Molecular Oncology, BC Cancer, and Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  10. Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.
  11. IFOM-the FIRC Institute of Molecular Oncology, Milan, Italy.
  12. Division of Cancer Prevention and Genetics, European Institute of Oncology, Milan, Italy.
  13. Division of Oncology, Stanford University School of Medicine, Palo Alto, CA.
  14. Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Boston, MA.

PMID: 32954205 PMCID: PMC7496037 DOI: 10.1200/PO.19.00301

Abstract

PURPOSE: Women with breast cancer have a 4%-16% lifetime risk of a second primary cancer. Whether mutations in genes other than

PATIENTS AND METHODS: We identified pathogenic germline mutations in 17 cancer susceptibility genes in patients with

RESULTS: Overall, pathogenic mutation rates for autosomal, dominantly inherited genes were higher in patients with MP-BC versus S-BC in both cohorts (8.5%

CONCLUSION: Mutation rates are at least 7% in all patients with

© 2020 by American Society of Clinical Oncology.

Conflict of interest statement

The following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated unless otherwise noted. Relationships are self-held unless noted. I

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