Managing BRCA Mutation Carriers

247 Pages·2017·4.331 MB·English

by  Anees B. Chagpar (eds.)

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
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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