Managing BRCA Mutation Carriers PDF
Preview Managing BRCA Mutation Carriers
Anees B. Chagpar Editor Managing BRCA Mutation Carriers Managing BRCA Mutation Carriers Anees B. Chagpar Editor Managing BRCA Mutation Carriers 123 Editor Anees B.Chagpar Yale ComprehensiveCancer Center Yale University Schoolof Medicine NewHaven, CT USA ISBN978-3-319-59197-1 ISBN978-3-319-59198-8 (eBook) DOI 10.1007/978-3-319-59198-8 LibraryofCongressControlNumber:2017940586 ©SpringerInternationalPublishingAG2017 Thisworkissubjecttocopyright.AllrightsarereservedbythePublisher,whetherthewholeorpart of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission orinformationstorageandretrieval,electronicadaptation,computersoftware,orbysimilarordissimilar methodologynowknownorhereafterdeveloped. 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Printedonacid-freepaper ThisSpringerimprintispublishedbySpringerNature TheregisteredcompanyisSpringerInternationalPublishingAG Theregisteredcompanyaddressis:Gewerbestrasse11,6330Cham,Switzerland Preface Over the last several decades, there has been an explosion in our knowledge base regardingthegeneticbasisofbreastcancer.Withthediscoveryofnovelgenes,and with novel technology that has made genetic testing more easily available and affordable,therehasbeenincreasinginterestonthepartofpatientsandprovidersto access these services. Celebrities like Angelina Jolie have come forth to tell their story,andmorepatientsarenowawareoftheirfamilyhistoryandgeneticrisk.Atthe sametime,withtheSupremeCourt’soverturningoftheMyriadpatentandwiththe developmentofaffordablepanelsforgenetictestingforbreastcancerrisk,therehas beenademocratizationofaccesstothistechnology.Withthis,however,hascomea barrage of issues that bombard clinicians working in this space. How do we risk stratify our patients? Who should receive genetic testing? When should we use panels? How do we interpret a variant of uncertain significance? As more patients undergo genetic testing, we are increasingly faced with questions surrounding the valueofprophylacticmastectomy,oophorectomy,orhowbesttosurveilourpatients whooptnottoundergomastectomy.Inpatientswhoarediagnosedwithcancerand whoharborageneticmutation,nuancesexistintermsoftheirsurgical,medical,and radiation management. Clearly, fertility preservation and preimplantation genetic assessmentarealsoconsiderations.Andofcourse,moremenwithgeneticmutations arediagnosedwithbreastcancer,andtheywarrantspecificconsiderations.Finally, throughout the journey—from genetic assessment through surgery and survivor- ship—patientswithgeneticmutationshaveavarietyofpsychosocialconsiderations andmayhaveconcernsaboutthelegalimplicationsoftheirdiagnosis.Thisbookis intendedto help clinicians navigatethis complex landscape. We are incredibly grateful to the stellar authors who have participated in this project. Their expertise is unparalleled, and we appreciate their thoughtful con- siderationinpreparingthechaptersherein.Inaddition,wearegratefultoStephanie FrostandtherestoftheteamatSpringerfortheirassistanceinbringingthisworkto fruition. Wehopethatyoushouldfindthisvolumeofinterest,andhelpfultoyouinyour practice. We look forward to your feedback! New Haven, CT, USA Anees B. Chagpar v Contents 1 Risk Assessment for Breast Cancer. . . . . . . . . . . . . . . . . . . . . . . . 1 Anvy Nguyen, Jessica Cintolo-Gonzalez, Jennifer K. Plichta and Kevin S. Hughes 2 Genetic Evaluation for Women at Increased Risk . . . . . . . . . . . . . 15 Karina L. Brierley, Claire L. Healy and Erin W. Hofstatter 3 Imaging Screening and Surveillance . . . . . . . . . . . . . . . . . . . . . . . 31 Ellen Warner 4 Risk-Reducing Surgery for BRCA1/2 Genetic Mutation Carriers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 47 Cristina O’Donoghue, Sonia Orcutt, Tuya Pal and Christine Laronga 5 Prophylactic Oophorectomy for Patients with Germline BRCA Mutations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65 Dario R. Roque and Don S. Dizon 6 Pathology of BRCA Tumors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 89 Julio A. Ibarra 7 Surgical Management of Breast Cancer in BRCA Mutation Carriers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119 Patricia A. Cronin and Hiram S. Cody III 8 Medical Management of Breast Cancer in BRCA Mutation Carriers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 135 Soley Bayraktar and Banu K. Arun 9 Radiation Oncology Considerations in the Management of Mutation Carriers with Breast Cancer . . . . . . . . . . . . . . . . . . . 151 Meena S. Moran 10 Fertility Preservation in BRCA Carriers: Special Considerations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 171 Iris G. Insogna, Elizabeth S. Ginsburg and Ann H. Partridge vii viii Contents 11 Management of Male BRCA Mutation Carriers. . . . . . . . . . . . . . . 187 Donna-Marie Manasseh, Ryland J. Gore and Patrick I. Borgen 12 Psychosocial, Ethical, and Legal Implications for Mutation Carriers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 205 Jacquelyn M. Powers, Jessica M. Long and Willonie Mendonca Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 235 Contributors Banu K. Arun Department of Breast Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA Soley Bayraktar Department of Medical Oncology, Memorial Cancer Center, Istanbul, Turkey Patrick I. Borgen Department of General Surgery, Maimonides Medical Center, Brooklyn, NY, USA Karina L. Brierley Smilow Cancer Genetics and Prevention Program, Yale New Haven Hospital, New Haven, CT, USA Jessica Cintolo-Gonzalez Department of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA Hiram S. Cody, III Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College, New York, NY, USA Patricia A. Cronin Memorial Sloan Kettering Cancer Center, Breast Service, Evelyn Lauder Breast and Imaging Center, New York, NY, USA Don S. Dizon Department of Medicine, Massachusetts General Hospital Cancer Center, Boston, MA, USA Elizabeth S. Ginsburg Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA Ryland J. Gore Department of General Surgery, Maimonides Medical Center, Brooklyn, NY, USA Claire L. Healy Smilow Cancer Genetics and Prevention Program, Yale New Haven Hospital, New Haven, CT, USA Kevin S. Hughes Department of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; BermudaCancerGenetics andRiskAssessmentClinic,Hamilton,Bermuda;Avon ComprehensiveBreastEvaluationCenter,MassachusettsGeneralHospital,Boston, MA, USA ix x Contributors Erin W. Hofstatter Department of Medical Oncology, Smilow Cancer Genetics andPreventionProgram,YaleNewHavenHospital/YaleSchoolofMedicine,New Haven, CT, USA Julio A. Ibarra Orange Coast Memorial Medical Center, Fountain Valley, CA, USA;DepartmentofPathology,UniversityofCaliforniaatIrvine,Irvine,CA,USA Iris G. Insogna Department of Obstetrics and Gynecology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA ChristineLaronga DepartmentofBreastOncology,H.LeeMoffittCancerCenter & Research Institute, Tampa, FL, USA JessicaM.Long DepartmentofMedicine,DivisionofHematology-Oncologyand Basser Center for BRCA, University of Pennsylvania, Philadelphia, PA, USA Donna-Marie Manasseh Department of General Surgery, Maimonides Medical Center, Brooklyn, NY, USA Willonie Mendonca GeneDx Laboratories, Gaithersburg, MD, USA Meena S. Moran Therapeutic Radiology, Yale University School of Medicine, New Haven, CT, USA; Yale New Haven Hospital, New Haven, CT, USA AnvyNguyen DepartmentofSurgicalOncology,MassachusettsGeneralHospital, Boston, MA, USA Cristina O’Donoghue Department of Breast Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Sonia Orcutt Department of Breast Oncology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Tuya Pal Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL, USA Ann H. Partridge Department of Medical Oncology, Dana-Farber Cancer Insti- tute, Brookline, MA, USA; Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, USA Jennifer K. Plichta Department of Surgery, Duke University Medical Center, Durham, NC, USA Jacquelyn M. Powers Department of Medicine, Division of Hematology- Oncology and Basser Center for BRCA, University of Pennsylvania, Philadel- phia, PA, USA DarioR.Roque DepartmentofObstetricsandGynecology,PrograminWomen’s Oncology, Women and Infants Hospital/The Warren Alpert Medical School at Brown University, Providence, RI, USA Contributors xi Ellen Warner Medical Oncologist, Sunnybrook Health Sciences Centre, Depart- mentofMedicine,DivisionofMedicalOncology,UniversityofToronto,Toronto, ON, Canada
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