Cancer Risk Models: Translating Family History into Clinical Management
Authors: Susan M. Domchek, Antonis Antoniou
Journal: Annals of Internal Medicine (2007)

Editorials2 October 2007Cancer Risk Models: Translating Family History into Clinical ManagementSusan M. Domchek, MD and Antonis Antoniou, PhDSusan M. Domchek, MDFrom Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, and University of Cambridge, Cambridge CB1 8RN, United KingdomSearch for more papers by this author and Antonis Antoniou, PhDFrom Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, and University of Cambridge, Cambridge CB1 8RN, United KingdomSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-147-7-200710020-00009 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail BRCA1 and BRCA2 mutation carriers have a very high lifetime risk for breast or ovarian cancer. Because strategies to reduce these risks are effective (1), identifying appropriate individuals for genetic testing is very important. During genetic counseling, a professional obtains a detailed 3-generation pedigree, examines it to determine potential inheritance patterns, and decides whether to recommend genetic testing. The probability that a person has a BRCA1 or BRCA2 mutation is 1 factor in deciding about genetic testing and medical management. Researchers have developed statistical models that predict the absolute risk for breast and other types of cancer and estimate the ...References1. Domchek SM, Weber BL. Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene. 2006;25:5825-31. [PMID: 16998496] CrossrefMedlineGoogle Scholar2. Parmigiani G, Chen S, Iversen ES, Friebel TM, Finkelstein DM, Anton-Culver H, et al. Validity of models for predicting BRCA1 and BRCA2 mutations. Ann Intern Med. 2007;147:441-50. LinkGoogle Scholar3. Antoniou AC, Pharoah PP, Smith P, Easton DF. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer. 2004;91:1580-90. [PMID: 15381934] CrossrefMedlineGoogle Scholar4. Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004;23:1111-30. [PMID: 15057881] CrossrefMedlineGoogle Scholar5. Domchek SM, Eisen A, Calzone K, Stopfer J, Blackwood A, Weber BL. Application of breast cancer risk prediction models in clinical practice. J Clin Oncol. 2003;21:593-601. [PMID: 12586794] CrossrefMedlineGoogle Scholar6. Gurmankin AD, Domchek S, Stopfer J, Fels C, Armstrong K. Patients' resistance to risk information in genetic counseling for BRCA1/2. Arch Intern Med. 2005;165:523-9. [PMID: 15767527] CrossrefMedlineGoogle Scholar7. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480-90. [PMID: 11896095] CrossrefMedlineGoogle Scholar8. Antoniou AC, Easton DF. Risk prediction models for familial breast cancer. Future Oncol. 2006;2:257-74. [PMID: 16563094] CrossrefMedlineGoogle Scholar9. Easton DF. How many more breast cancer predisposition genes are there? [Editorial]. Breast Cancer Res. 1999;1:14-7. [PMID: 11250676] CrossrefMedlineGoogle Scholar10. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447:1087-93. [PMID: 17529967] CrossrefMedlineGoogle Scholar11. Amir E, Evans DG, Shenton A, Lalloo F, Moran A, Boggis C, et al. Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme. J Med Genet. 2003;40:807-14. [PMID: 14627668] CrossrefMedlineGoogle Scholar12. Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989;81:1879-86. [PMID: 2593165] CrossrefMedlineGoogle Scholar13. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer. 1994;73:643-51. [PMID: 8299086] CrossrefMedlineGoogle Scholar14. Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007;297:2587-95. [PMID: 17579227] CrossrefMedlineGoogle Scholar15. Lakhani SR, Reis-Filho JS, Fulford L, Penault-Llorca F, van der Vijver M, Parry S, et al. Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype. Clin Cancer Res. 2005;11:5175-80. [PMID: 16033833] CrossrefMedlineGoogle Scholar16. Quillin JM, Ramakrishnan V, Borzelleca J, Bodurtha J, Bowen D, Baer Wilson D. Paternal relatives and family history of breast cancer. Am J Prev Med. 2006;31:265-8. [PMID: 16905040] CrossrefMedlineGoogle Scholar17. Murabito JM, Nam BH, D'Agostino RB, Lloyd-Jones DM, O'Donnell CJ, Wilson PW. Accuracy of offspring reports of parental cardiovascular disease history: the Framingham Offspring Study. Ann Intern Med. 2004;140:434-40. [PMID: 15023709] LinkGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA 19104, and University of Cambridge, Cambridge CB1 8RN, United KingdomDisclosures: Dr. Domchek receives grant support from the Cancer Genetics Network. However, she was not involved in the preparation of Parmigiani and colleagues' manuscript, which was an ongoing project at the Cancer Genetics Network before she became the site principal investigator at the University of Pennsylvania.Corresponding Author: Susan M. Domchek, MD, University of Pennsylvania, 14 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104; e-mail, susan.[email protected]upenn.edu.Current Author Addresses: Dr. Domchek: Cancer Risk Evaluation Program, Abramson Cancer Center, University of Pennsylvania, 14 Penn Tower, 3400 Spruce Street, Philadelphia, PA 19104.Dr. Antoniou: Cancer Research, United Kingdom Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, United Kingdom. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoValidity of Models for Predicting BRCA1 and BRCA2 Mutations Giovanni Parmigiani , Sining Chen , Edwin S. Iversen Jr , Tara M. Friebel , Dianne M. Finkelstein , Hoda Anton-Culver , Argyrios Ziogas , Barbara L. Weber , Andrea Eisen , Kathleen E. Malone , Janet R. Daling , Li Hsu , Elaine A. Ostrander , Leif E. Peterson , Joellen M. Schildkraut , Claudine Isaacs , Camille Corio , Leoni Leondaridis , Gail Tomlinson , Christopher I. Amos , Louise C. Strong , Donald A. Berry , Jeffrey N. Weitzel , Sharon Sand , Debra Dutson , Rich Kerber , Beth N. Peshkin , and David M. Euhus Metrics Cited byBilateral mammographic density asymmetry and breast cancer risk: A preliminary assessmentThe Application of Genetics and Genomics to Cancer PreventionAssessing Women at High Risk of Breast Cancer: A Review of Risk Assessment ModelsThe Breast 2 October 2007Volume 147, Issue 7Page: 515-517KeywordsBreast cancerCancer geneticsGenetic diseasesGenetic predispositionGenetic testingHereditary nonpolyposis colorectal cancerOvarian cancerPopulation geneticsRisk assessmentsSpecificity ePublished: 2 October 2007 Issue Published: 2 October 2007 Copyright & PermissionsCopyright © 2007 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...