Departments/Divisions
Genomic biomarkers for breast cancer risk
Michael F. Walsh, Katherine L. Nathanson, Fergus J. Couch, Kenneth Offit
Health Sciences Research
Clinical risk assessment for cancer predisposition includes a three-generation pedigree and physical examination to identify inherited syndromes. Additionally genetic and genomic biomarkers may identify individuals with a constitutional basis for their disease that may not be evident clinically. Genomic biomarker testing may detect molecular variations in single genes, panels of genes, or entire genomes. The strength of evidence for the association of a genomic biomarker with disease risk may be weak or strong. The factors contributing to clinical validity and utility of genomic biomarkers include functional laboratory analyses and genetic epidemiologic evidence. Genomic biomarkers may be further classified as low, moderate or highly penetrant based on the likelihood of disease. Genomic biomarkers for breast cancer are comprised of rare highly penetrant mutations of genes such as BRCA1 or BRCA2, moderately penetrant mutations of genes such as CHEK2, as well as more common genomic variants, including single nucleotide polymorphisms, associated with modest effect sizes. When applied in the context of appropriate counseling and interpretation, identification of genomic biomarkers of inherited risk for breast cancer may decrease morbidity and mortality, allow for definitive prevention through assisted reproduction, and serve as a guide to targeted therapy.
Advances in Experimental Medicine and Biology
Springer New York LLC
Breast oncology
Chemoprevention
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Biomarkers Chemical Compounds
Polymorphism Chemical Compounds
Pedigree Medicine & Life Sciences
Risk assessment Chemical Compounds
Reproduction Medicine & Life Sciences
Walsh, M. F., Nathanson, K. L., Couch, F. J., & Offit, K. (2016). Genomic biomarkers for breast cancer risk. In Advances in Experimental Medicine and Biology (pp. 1-32). (Advances in Experimental Medicine and Biology; Vol. 882). Springer New York LLC. https://doi.org/10.1007/978-3-319-22909-6_1
Genomic biomarkers for breast cancer risk. / Walsh, Michael F.; Nathanson, Katherine L.; Couch, Fergus J.; Offit, Kenneth.
Advances in Experimental Medicine and Biology. Springer New York LLC, 2016. p. 1-32 (Advances in Experimental Medicine and Biology; Vol. 882).
Walsh, MF, Nathanson, KL, Couch, FJ & Offit, K 2016, Genomic biomarkers for breast cancer risk. in Advances in Experimental Medicine and Biology. Advances in Experimental Medicine and Biology, vol. 882, Springer New York LLC, pp. 1-32. https://doi.org/10.1007/978-3-319-22909-6_1
Walsh MF, Nathanson KL, Couch FJ, Offit K. Genomic biomarkers for breast cancer risk. In Advances in Experimental Medicine and Biology. Springer New York LLC. 2016. p. 1-32. (Advances in Experimental Medicine and Biology). https://doi.org/10.1007/978-3-319-22909-6_1
Walsh, Michael F. ; Nathanson, Katherine L. ; Couch, Fergus J. ; Offit, Kenneth. / Genomic biomarkers for breast cancer risk. Advances in Experimental Medicine and Biology. Springer New York LLC, 2016. pp. 1-32 (Advances in Experimental Medicine and Biology).
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title = "Genomic biomarkers for breast cancer risk",
abstract = "Clinical risk assessment for cancer predisposition includes a three-generation pedigree and physical examination to identify inherited syndromes. Additionally genetic and genomic biomarkers may identify individuals with a constitutional basis for their disease that may not be evident clinically. Genomic biomarker testing may detect molecular variations in single genes, panels of genes, or entire genomes. The strength of evidence for the association of a genomic biomarker with disease risk may be weak or strong. The factors contributing to clinical validity and utility of genomic biomarkers include functional laboratory analyses and genetic epidemiologic evidence. Genomic biomarkers may be further classified as low, moderate or highly penetrant based on the likelihood of disease. Genomic biomarkers for breast cancer are comprised of rare highly penetrant mutations of genes such as BRCA1 or BRCA2, moderately penetrant mutations of genes such as CHEK2, as well as more common genomic variants, including single nucleotide polymorphisms, associated with modest effect sizes. When applied in the context of appropriate counseling and interpretation, identification of genomic biomarkers of inherited risk for breast cancer may decrease morbidity and mortality, allow for definitive prevention through assisted reproduction, and serve as a guide to targeted therapy.",
keywords = "BRCA, Biomarkers, Breast oncology, Chemoprevention, Genetic counseling, Genetic testing, Genetics, Genomics, Prophylactic",
author = "Walsh, {Michael F.} and Nathanson, {Katherine L.} and Couch, {Fergus J.} and Kenneth Offit",
note = "Funding Information: Acknowledgments: We thank S. M. Domchek, M. Robson, L. Norton, and C. Hudis for informative discussions on this subject. F.J.C. is supported by the Breast Cancer Research Foundation, NIH grants CA192393, CA176785 and CA116167, and a National Cancer Institute Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201). K.L.N. is supported by the Basser Center for BRCA Research, The Breast Cancer Research Foundation, the Rooney Family Foundation, Melanoma Research Alliance, NIH grants U01CA164947 and CA135509, the Commonwealth of Pennsylvania, and the Abramson Cancer Center Core grant (CA016520). M.W. is supported by the Robert and Kate Niehaus Clinical Genetics Initiative. K.O. is supported by the Sandra Taub Memorial Award of the Breast Cancer Research Foundation, the Sharon Levine Corzine Fund for Cancer Research, NIH grant 3P30CA008748-47, the Filomen M. D?Agostino Foundation, and the Andrew Sabin Family Fund. F.J.C. is a coholder of U.S. patents 5,837,492 and 6,033,857 held by Myriad Genetics Inc., Trustees of the University of Pennsylvania, HSC Research and Development Limited Partnership, and Endo Recherche Inc., which cover testing for mutations in the BRCA2 gene.",
doi = "10.1007/978-3-319-22909-6_1",
series = "Advances in Experimental Medicine and Biology",
publisher = "Springer New York LLC",
booktitle = "Advances in Experimental Medicine and Biology",
T1 - Genomic biomarkers for breast cancer risk
AU - Walsh, Michael F.
AU - Nathanson, Katherine L.
AU - Couch, Fergus J.
AU - Offit, Kenneth
N1 - Funding Information: Acknowledgments: We thank S. M. Domchek, M. Robson, L. Norton, and C. Hudis for informative discussions on this subject. F.J.C. is supported by the Breast Cancer Research Foundation, NIH grants CA192393, CA176785 and CA116167, and a National Cancer Institute Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201). K.L.N. is supported by the Basser Center for BRCA Research, The Breast Cancer Research Foundation, the Rooney Family Foundation, Melanoma Research Alliance, NIH grants U01CA164947 and CA135509, the Commonwealth of Pennsylvania, and the Abramson Cancer Center Core grant (CA016520). M.W. is supported by the Robert and Kate Niehaus Clinical Genetics Initiative. K.O. is supported by the Sandra Taub Memorial Award of the Breast Cancer Research Foundation, the Sharon Levine Corzine Fund for Cancer Research, NIH grant 3P30CA008748-47, the Filomen M. D?Agostino Foundation, and the Andrew Sabin Family Fund. F.J.C. is a coholder of U.S. patents 5,837,492 and 6,033,857 held by Myriad Genetics Inc., Trustees of the University of Pennsylvania, HSC Research and Development Limited Partnership, and Endo Recherche Inc., which cover testing for mutations in the BRCA2 gene.
N2 - Clinical risk assessment for cancer predisposition includes a three-generation pedigree and physical examination to identify inherited syndromes. Additionally genetic and genomic biomarkers may identify individuals with a constitutional basis for their disease that may not be evident clinically. Genomic biomarker testing may detect molecular variations in single genes, panels of genes, or entire genomes. The strength of evidence for the association of a genomic biomarker with disease risk may be weak or strong. The factors contributing to clinical validity and utility of genomic biomarkers include functional laboratory analyses and genetic epidemiologic evidence. Genomic biomarkers may be further classified as low, moderate or highly penetrant based on the likelihood of disease. Genomic biomarkers for breast cancer are comprised of rare highly penetrant mutations of genes such as BRCA1 or BRCA2, moderately penetrant mutations of genes such as CHEK2, as well as more common genomic variants, including single nucleotide polymorphisms, associated with modest effect sizes. When applied in the context of appropriate counseling and interpretation, identification of genomic biomarkers of inherited risk for breast cancer may decrease morbidity and mortality, allow for definitive prevention through assisted reproduction, and serve as a guide to targeted therapy.
AB - Clinical risk assessment for cancer predisposition includes a three-generation pedigree and physical examination to identify inherited syndromes. Additionally genetic and genomic biomarkers may identify individuals with a constitutional basis for their disease that may not be evident clinically. Genomic biomarker testing may detect molecular variations in single genes, panels of genes, or entire genomes. The strength of evidence for the association of a genomic biomarker with disease risk may be weak or strong. The factors contributing to clinical validity and utility of genomic biomarkers include functional laboratory analyses and genetic epidemiologic evidence. Genomic biomarkers may be further classified as low, moderate or highly penetrant based on the likelihood of disease. Genomic biomarkers for breast cancer are comprised of rare highly penetrant mutations of genes such as BRCA1 or BRCA2, moderately penetrant mutations of genes such as CHEK2, as well as more common genomic variants, including single nucleotide polymorphisms, associated with modest effect sizes. When applied in the context of appropriate counseling and interpretation, identification of genomic biomarkers of inherited risk for breast cancer may decrease morbidity and mortality, allow for definitive prevention through assisted reproduction, and serve as a guide to targeted therapy.
KW - BRCA
KW - Biomarkers
KW - Breast oncology
KW - Chemoprevention
KW - Genetic counseling
KW - Genetic testing
KW - Genomics
KW - Prophylactic
U2 - 10.1007/978-3-319-22909-6_1
DO - 10.1007/978-3-319-22909-6_1
T3 - Advances in Experimental Medicine and Biology
BT - Advances in Experimental Medicine and Biology
PB - Springer New York LLC