Breast Cancer Susceptibility Genes: Current Challenges and Future Promises
Authors: Barbara Weber
Journal: Annals of Internal Medicine (1996)

Editorials15 June 1996Breast Cancer Susceptibility Genes: Current Challenges and Future PromisesBarbara Weber, MDBarbara Weber, MDUniversity of Pennsylvania School of Medicine, Philadelphia, PA 19104Note: Dr. Weber is on the Clinical Advisory Board of and holds financial interest in the Myriad Genetics company.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-124-12-199606150-00012 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Recent advances in understanding the basis for breast cancer that clusters in families represent a rare combination of spectacular scientific achievements and immediate clinical applications. In the past 5 years, we have moved from skepticism that single genes could be responsible for inherited forms of common adult cancer to the rapid organization of dozens of clinics designed to provide DNA-based susceptibility testing for mutations in several such recently isolated genes. These discoveries provide both critical tools for understanding the molecular events that precede the development of clinical breast cancer and the information necessary to identify women at exceptional risk for ...References1. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990; 250:1684-9. Google Scholar2. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994; 266:66-71. Google Scholar3. Easton DF, Bishop DT, Ford D, Crockford GP. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet. 1993; 52:678-701. Google Scholar4. FitzGerald MG, MacDonald DJ, Krainer M, Hoover I, O'Neil E, Unsal H, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early onset breast cancer. N Engl J Med. 1996; 334:143-9. Google Scholar5. Langston AA, Malone KE, Thompson JD, Daling JR, Ostrander EA. BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med. 1996; 34:137-42. Google Scholar6. Struewing JP, Abeliovich D, Peretz T, Avishai N, Kaback MM, Collins FS, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet. 1995; 11:198-200. Google Scholar7. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994; 343:692-5. Google Scholar8. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994; 265:2088-90. Google Scholar9. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995; 378:789-92. Google Scholar10. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet. 1996; 12:333-7. Google Scholar11. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, et al. A collaborative study of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 1995; 273:535-41. Google Scholar12. Claus EB, Risch N, Thompson WD. Austosomal dominant inheritance of early-onset breast cancer. Cancer. 1994; 73:643-51. Google Scholar13. Statement of the American Society of Clinical Oncology. Genetic testing for cancer susceptibility. J Clin Oncol. 1996; 14:1730-6. Google Scholar Author, Article, and Disclosure InformationAffiliations: University of Pennsylvania School of Medicine, Philadelphia, PA 19104Note: Dr. Weber is on the Clinical Advisory Board of and holds financial interest in the Myriad Genetics company.Corresponding Author: Barbara Weber, MD, Biomedical Research Building, Room 1009, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, PA 19104. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byManaging hereditary gastrointestinal cancer syndromes: the partnership between genetic counselors and gastroenterologistsAttitudes and Misconceptions about Predictive Genetic Testing for Cancer RiskBRCA1/2 Genetic Testing in the Community SettingBRCA1 and BRCA2: to test or not to testPatient Motivation, Satisfaction, and Coping in Genetic Counseling and Testing for BRCA1 and BRCA2Genetics and the Multidisciplinary Breast CenterReducing Scatter Radiation to the Contralateral Breast With a Mobile, Conformal Shield During Breast Cancer RadiotherapyEthics of predictive DNA-testing for hereditary breast and ovarian cancerPrimary biliary cirrhosis in patients with breast cancer: studying the linkPrevention Research at the National Institutes of HealthGenetic susceptibility testingGenetic counseling and hereditary cancerToward a Model Informed Consent Process for BRCA1 Testing: A Qualitative Assessment of Women's Attitudes 15 June 1996Volume 124, Issue 12Page: 1088-1090KeywordsBreast cancerDNAGenetic diseasesGenetic predispositionGenetic testingHealth insuranceHereditary nonpolyposis colorectal cancerMutationOvarian cancerSurgery Issue Published: 15 June 1996 Copyright & PermissionsCopyright © 1996 by American College of Physicians. 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