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Slavin TP, Maxwell KN, Lilyquist J, et al. The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer. 2017;3:22doi: 10.1038/s41523-017-0024-8.
Slavin, T. P., Maxwell, K. N., Lilyquist, J., Vijai, J., Neuhausen, S. L., Hart, S. N., Ravichandran, V., Thomas, T., Maria, A., Villano, D., Schrader, K. A., Moore, R., Hu, C., Wubbenhorst, B., Wenz, B. M., D'Andrea, K., Robson, M. E., Peterlongo, P., Bonanni, B., Ford, J. M., Garber, J. E., Domchek, S. M., Szabo, C., Offit, K., Nathanson, K. L., Weitzel, J. N., & Couch, F. J. (2017). The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ breast cancer, 322. https://doi.org/10.1038/s41523-017-0024-8
Slavin, Thomas P, et al. "The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk." NPJ breast cancer vol. 3 (2017): 22. doi: https://doi.org/10.1038/s41523-017-0024-8
Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ. The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer. 2017 Jun 09;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017. PMID: 28649662; PMCID: PMC5466608.
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NPJ Breast Cancer. 2017 Jun 09;3:22. doi: 10.1038/s41523-017-0024-8. eCollection 2017.

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.

NPJ breast cancer

Thomas P Slavin, Kara N Maxwell, Jenna Lilyquist, Joseph Vijai, Susan L Neuhausen, Steven N Hart, Vignesh Ravichandran, Tinu Thomas, Ann Maria, Danylo Villano, Kasmintan A Schrader, Raymond Moore, Chunling Hu, Bradley Wubbenhorst, Brandon M Wenz, Kurt D'Andrea, Mark E Robson, Paolo Peterlongo, Bernardo Bonanni, James M Ford, Judy E Garber, Susan M Domchek, Csilla Szabo, Kenneth Offit, Katherine L Nathanson, Jeffrey N Weitzel, Fergus J Couch

Affiliations

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

PMID: 28649662 PMCID: PMC5466608 DOI: 10.1038/s41523-017-0024-8

Abstract

Understanding the gene-specific risks for development of breast cancer will lead to improved clinical care for those carrying germline mutations in cancer predisposition genes. We sought to detail the spectrum of mutations and refine risk estimates for known and proposed breast cancer susceptibility genes. Targeted massively-parallel sequencing was performed to identify mutations and copy number variants in 26 known or proposed breast cancer susceptibility genes in 2134

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