Genetics and Family History


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Bermuda Risk Clinic

Bermuda Cancer Genetics and Risk Assessment Clinic

Mutations in certain genes – known as BRCA 1 and BRCA 2 – make Bermudian men and women from particular families more susceptible to developing breast and ovarian cancer than the island’s population at large. To decrease the morbidity and mortality from breast and ovarian cancers, Partners launched the Bermuda Cancer Genetics Risk Assessment Program in 2006 in collaboration with the Health Insurance Association of Bermuda and the Bermuda Cancer and Health Centre. As the island’s first program for cancer genetics testing, the initiative identifies, educates and supports women who may be at high risk. Once it has been determined that a patient is at high risk, Dr. Kevin Hughes, a leading breast specialist from  Massachusetts General Hospital, develops a plan of care in collaboration with the patient’s local doctor. Genetic testing, earlier mammography, and more frequent clinical exams are all considered, depending upon the patient’s needs.

“Our program is primarily a patient education and evaluation service,” explained Dr. Hughes. “When we determine that a patient is at high risk, we will develop a plan of care in collaboration with her local doctor. Genetic testing, earlier mammography, and more frequent clinical exams will all be considered, depending upon the needs of the patient. Our goal is to identify patients at high risk, and to then take measures to either prevent cancer, or find it at an earlier, more treatable stage.”

The program is under the medical direction of Dr. Kevin Hughes fromMassachusetts GeneralHospital and is open to all men and women inBermuda who may be at risk for breast and ovarian cancer. It is offered in collaboration with the Health Insurance Association of Bermuda.

For more information about this program, or to request an appointment, please contact Leslie Shane, Partners’ local representative inBermuda at (441) 238-3620 or (617) 535-6556.

The Takeaway

Is Angelina Jolie’s Medical Choice Available to All Women?

Tuesday, May 14, 2013Director Angelina Jolie and DP Dean Semler discuss a shot while filming In the Land of Blood and Honey

  • Director Angelina Jolie and director of photography Dean Semler discuss a shot while filming In the Land of Blood and Honey(Dean Semler/Courtesy of FilmDistrict and GK Films)

In an op-ed piece for our partner The New York Times, actress and director Angelina Jolie announced that she recently underwent a double mastectomy after learning that she is a carrier of the BRCA1 breast cancer gene and was at high risk of developing the disease.

After battling breast cancer for nearly a decade, Jolie’s mother died of the disease at the age of 56. So in an effort to be proactive and minimize her risks, Jolie began going through the treatments and surgery in February of this year.

Gisella Alvarez, a charge nurse at Mercy Medical Center, shares her experience undergoing a double mastectomy after being diagnosed with breast cancer.

Nita A. Farahany is a bioethicist at Duke University and professor of genome sciences and policy. She sits on the Presidential Commission for the Study of Bioethical Issues. Dr. Kevin Hughes is a surgical oncologist at Massachusetts General Hospital. They discuss the ethics of knowing your genetic information and the decision making process that leads to this life transforming operation.

Listen at

Produced by:

Rupert Allman and


The Boston Globe

The ASCO Post

The rest of the story at:

Video on eCancer TV regarding Electronic Health Records

Speaker at Bermuda Cancer Fundraiser

Elissa M. Ozanne & Adrienne O’Connell & Colleen Bouzan & Phil Bosinoff & Taryn Rourke & Dana Dowd & Brian Drohan & Fred Millham & Pat Griffin & Elkan F. Halpern & Alan Semine & Kevin S. Hughes

Abstract: Family history of cancer is critical for identifying and managing patients at risk for cancer. However, the quality of family history data is dependent on the accuracy of patient self reporting. Therefore, the validity of family history reporting is crucial to the quality of clinical care. A retrospective review of family history data collected at a community hospital between 2005 and 2009 was performed in 43,257 women presenting for screening mammography. Reported numbers of breast, colon, prostate, lung, and ovarian cancer were compared in maternal relatives vs. paternal relatives and in first vs. second degree relatives. Significant reporting differences were found between maternal and paternal family history of cancer, in addition to degree of relative. The number of paternal family histories of cancer was significantly lower than that of maternal family histories of cancer. Similarly, the percentage of grandparents’ family histories of cancer was significantly lower than the percentage of parents’ family histories of cancer. This trend was found in all cancers except prostate cancer. Self-reported family history in the community setting is often influenced by both bloodline of the cancer history and the degree of relative affected. This is evident by the underreporting of paternal family histories of cancer, and also, though to a lesser extent, by degree. These discrepancies in reporting family history of cancer imply we need to take more care in collecting accurate family histories and also in the clinical management of individuals in relation to hereditary risk.

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Providing access to risk prediction tools via the HL7 XML-formatted risk web service

Jonathan Chipman • Brian Drohan • Amanda Blackford • Giovanni Parmigiani • Kevin Hughes • Phil Bosinoff

Abstract Cancer risk prediction tools provide valuable information to clinicians but remain computationally challenging. Many clinics find that CaGene or HughesRiskApps fit their needs for easy- and ready-to-use software to obtain cancer risks; however, these resources may not fit all clinics’ needs. The HughesRiskApps Group and BayesMendel Lab therefore developed a web service, called ‘‘Risk Service’’, which may be integrated into any client software to quickly obtain standardized and up-to-date risk predictions for BayesMendel tools (BRCAPRO, MMRpro, PancPRO, and MelaPRO), the Tyrer-Cuzick IBIS Breast Cancer Risk Evaluation Tool, and the Colorectal Cancer Risk Assessment Tool. Software clients that can convert their local structured data into the HL7XML-formatted family and clinical patient history (Pedigree model) may integrate with the Risk Service. The Risk Service uses Apache Tomcat and Apache Axis2 technologies to provide an all Java web service. The software client sends HL7 XML information containing anonymized family and clinical history to a Dana-Farber Cancer Institute (DFCI) server, where it is parsed, interpreted, and processed by multiple risk tools. The Risk Service then formats the results into an HL7 style message and returns the risk predictions to the originating software client. Upon consent, users may allow DFCI to maintain the data for future research. The Risk Service implementation is exemplified through HughesRiskApps. The Risk Service broadens the availability of valuable, up-to-date cancer risk tools and allows clinics and researchers to integrate risk prediction tools into their own software interface designed for their needs. Each software package can collect risk data using its own interface, and display the results using its own interface, while using a central, up-to-date risk calculator. This allows users to choose from multiple interfaces while always getting the latest risk calculations. Consenting users contribute their data for future research, thus building a rich multicenter resource.


BRCA1 and BRCA2 

Hughes KS, Roche CA:  How Do We Apply Genetic Testing for Breast Cancer Susceptibility to Clinical Practice?  Journal of Surgical Oncology 1996;62:155-157.

Hughes KS, Roche CA, Whitney T, McLellan R.  The Management of Women at High Risk of Experiencing Hereditary Breast and Ovarian Cancer: The Lahey Guidelines.  Dis Manage Health Outcomes, 2000;7(4): 201-215.

Euhus DM, Smith KC, Robinson L, Stuky A, Olopade OI, Cummings S, Garber JE, Chittenden A, Mills GB, Rieger P, Esserman L, Crawford B, Hughes KS, Roche CA, Ganz PA, Joyce Seldon, Fabian CJ, Klemp J, Tomlinson G: Pre-test prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.  JNCI 2002;94:844-851

Berry DA, Iversen ES, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN,  Lerman C,Watson P,Lynch HT,Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G:  BRCAPRO Validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes.  JCO 2002;20:2701-2712.

Hughes, KS, Ravnikar, V.  Risk Assessment and Management of Women with BRCA Mutations.  In: A Supplement to The Female Patient. 2009, Nov.

Breast Cancer Risk

Mackarem G, Roche CA, Hughes KS:  The effectiveness of the gail model in estimating risk for development of breast cancer in women under 40 years of age. Breast Journal 2001;7:34-39.

Dominguez FJ, Lawrence C, Halpern EF, Drohan B, Grinstein G, Black DM, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH, RocheCA, HughesKS:  Accuracy of Self-Reported Personal History of Cancer in an Outpatient Breast Center.  Journal of Genetic Counseling 2006 June;16(3):341-5.  Epub 2007 May 17.

Jones JL, Hughes KS, Howard-McNatt M, Kopans DB, Moore RH, Hughes KS, Lee NY, Roche CA, Siegel N, Gadd MA, Smith BL, Michaelson JS:  Evaluation of hereditary risk in a screening mammography population. Clinical Breast Cancer 2005;6(1): 38-44.

Schwartz GF, Hughes KS, Lynch HT, Fabian CJ, Fentiman IS, Robson ME, Domchek SM, Hartmann LC, Holland R, Winchester DJ, and the Consensus Conference Committee. Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007. Cancer 113 (10): 2627-2637, 2008.

Hughes KS,RocheCA:  The Complexity of Breast Cancer Risk Needs to be Embraced, Not Oversimplified.  Menopause – The Journal of The North American Menopause Society (In press)

Metcalfe KA, Mian N, Enmore M, Poll A, Llacuachaqui M, Nanda S, Sun P, Hughes KS, Narod SA. Long-Term Follow-Up of Jewish Women with a BRCA1 and BRCA2 Mutation Who Underwent Population Genetic Screening. Breast Cancer Research and Treatment. 2012 Jun;133(2):735-40. Epub 2012 Jan 13.

Identification of high risk individuals

Ozanne EM, Loberg A, Hughes S, Lawrence C, Drohan B, Semine A, Jellinek M, Cronin C, Milham F, Dowd D, Block C, Lockhart D, Sharko J, Grinstein G, Hughes KS. Identification and Management of Women at High Risk for Hereditary Breast/Ovarian Cancer Syndrome. Breast Journal. 2009 Mar-Apr;15(2):155-62.

Samphao S, Wheeler AJ, Rafferty E, Michaelson JS, Specht MC, Gadd MA, Hughes KS, Smith BL. Diagnosis of Breast Cancer in Women Age 40 and Younger: Delays in Diagnosis Result From Underuse of Genetic Testing and Breast Imaging.  Am J Surg. 2009, Oct;198(4):538-43.

Buckley JM, Coopey SB, Sharko J, Polubriaginof F, Drohan B, Belli AK, Kim EM, Garber JE, Smith BL, Gadd MA, Specht MC, Roche CA, Gudewicz TM, Hughes KS. The Feasibility of Using Natural Language Processing to Extract Clinical Information from Breast Pathology Reports. J Pathol Inform. 2012;3:23. doi: 10.4103/2153-3539.97788. Epub 2012 Jun 30.

Drohan B, RocheCA, Cusack JC Jr., Hughes KS: Hereditary Breast and Ovarian Cancer and Other Hereditary Syndromes: Using Technology to Identify Carriers. Annals of Surgical Oncology. 2012 Jun;19(6):1732-7. Epub 2012 Mar 17.

Cusack JC Jr., Hughes KS. Managing Patients at High Risk for Hereditary Breast Cancer: A Guide for the Practicing Physician. Annals of Surgical Oncology. 2012 Jun;19(6):1721-2. doi: 10.1245/s10434-012-2255-0. No abstract available.

Breast Cancer After Hodgkin’s Lymphonma

Alm El-Din MA, Hughes KS, Raad RA, Goldberg SI, Aisenberg AC, Niemierko A, Taghian AG.  Clinical Outcome of Breast Cancer Occurring After Treatment for Hodgkin’s Lymphoma: Case-Control Analysis.  Radiation Oncology 2009 Jun 30;4:19.

M. Alm El-Din M, Hughes KS, Finkelstein D, Betts K, Yock T, Tarbell N, Aisenberg A and Taghian AG. Breast Cancer After Treatment of Hodgkin’s lymphoma: Risk Factors That Really Matter. Int J Radiat Oncol Biol Phys.2009 Jan 1;73(1):69-74. Epub 2008 Jun 4.

Breast Density

Del Carmen MG, Halpern EF, Kopans DB, Moy B,
Moore RH, Goss P, Hughes KS: Mammographic Breast Density and Race.  American Journal of Roentgenology

Disparities, Racial Issues in Breast Cancer

del Carmen MG , Hughes KS, Halpern E, Rafferty E, Kopans D, Parisky YR, Sardi A, Esserman L, Rust S, and Michaelson J:  Racial differences in mammographic breast density.  Cancer 2003;98(3): 590-596

Family History

Hughes KS, Roche CA, Campbell CT, Siegel N, Salisbury L, Chekos A, Katz MS, Edell E: Prevalence of family history of breast and ovarian cancer in a single primary care practice using a self-administered questionnaire. The Breast Journal 2003;9: 19-25

Dominguez FJ, Jones JL, Zabicki K, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH, Michaelson JS,Hughes KS:  Prevalence of hereditary breast/ovarian cancer risk in patients with a personal history of breast or ovarian cancer in a mammography population.  Cancer 2005;104: 1849-53.

Shabo A, Hughes KS:  Family history information exchange services using HL7 clinical genomics standard specifications.  Int’l Journal on Semantic Web and Information Systems. 2005;1(4): 42-65

Ozanne EM, O’Connell A, Bouzan C, Bosinoff P, Rourke T, Dowd D, Drohan B, Millham F, Griffin P, Halpern E, Semine A, Hughes K. Bias in the reporting of family history: Implications for clinical care. Journal of Genetic Counseling. 2012 Jan 12. [Epub ahead of print]

Drohan B, Roche C, Hughes KS: Hereditary Breast and Ovarian Cancer and Other Hereditary Syndromes: Using Technology to Identify Carriers. Annals of Surgical Oncology (In press)

Dominguez FJ, Lawrence C, Halpern EF, Drohan B, Grinstein G, Black DM, Smith BL, Gadd MA, Specht MC, Kopans DB, Moore RH, Hughes KS, Roche CA, Hughes KS:  Accuracy of self-reported personal history of cancer in an outpatient breast center.  Journal of Genetic Counseling 2007 June;16(3):341-5.  Epub 2007 May 17.

Karen H Lu, Marie E Wood, Molly Daniels, Cathy Burke, James Ford, Noah D Kauff, Wendy Kohlmann, Noralane M Lindor, Therese Marie Mulvey, Linda Robinson, Wendy S Rubinstein, Elena M. Stoffel, Carrie Snyder, Sapna Syngal, Janette K Merrill, Dana S Wollins, and Kevin S. Hughes. ASCO Expert Statement: Collection & Utilization of a Cancer Family History for Oncology Providers. Journal of Clinical Oncology. 2013.

Marie E Wood, Pamela Kadlubek, Trang Pham, Dana S Wollins, Karen H Lu, Jeffrey N Weitzel, Michael N Neuss, and Kevin S. Hughes. Quality of Cancer Family History and Referral for Genetic Counseling and Testing Among Oncology Practices. A pilot testing of quality measures as part of the ASCO Quality Oncology Practice Initiative (QOPI®). Journal of Clinical Oncology. 2013.


Hughes KS, Roche CA.  HRT Revisited: Data from the population, treatment for the patient.   Menopause2003;10(4):269-70.

Biomarkers for breast cancer

Joshi MG, Lee AKC, Pedersen CA, Schnitt S, Camus MG, Hughes KS: The role of immunocytochemical markers in the differential diagnosis of proliferative and neoplastic lesions of the breast.  Modern Pathology1996;9(1): 57-62.

Rieger-Christ KM, Pezza JA, Dugan JM, Braasch JW, Hughes KS, Summerhayes IC:  Disparate E-cadherin mutations in LCIS and associated invasive breast carcinomas.  Molecular Pathology 2001;54(2):91-7.

Screening for breast cancer, mammography, screening mammograms

Pandya S, Mackarem G, Lee AKC, McLellan R, Heatley GJ, Hughes KS:  Ductal carcinoma-in-situ:  the impact of screening on clinical presentation and pathologic features.  The Breast Journal  1998;4(3): 146-151

Parisky YR, Sardi A, Hamm R, Hughes KS, Esserman L, Rust S, Callahan K: Efficacy of computerized infrared imaging analysis in the discrimination of mammographically suspicious lesions.  American J of Roentgenology2002;180: 263–269.

Kopans DB, Rafferty E, Georgian-Smith D, Yeh E, D’Alessandro H, Moore R, Hughes KS, Halpern E:  A simple model of breast cancer growth may provide explanations for observations of apparently complex phenomena.  Cancer 2003;97(12): 2951-2959

Del Carmen MG, Halpern EF, Kopans DB, Moy B, Moore RH, Goss P, Hughes KS: Mammographic breast density and race.  American Journal of Roentgenology 2007;188(4):1147-50.

Michaelson J, Satija S, Moore R, Weber G, Halpern E,Garland A, Kopans D, Hughes KS: Estimates of the sizes at which breast cancers become detectable on mammographic and on clinical grounds.  J Women’s Imaging2003;5:10-19

Blanchard K, Weissman J, MoyB, PuriD, Kopans D, Kaine E, MooreR, Halpern E, Hughes KS, Tanabe K, Smith B, Michaelson J:  Mammographic screening: patterns of use and estimated impact on breast carcinoma survival.  Cancer 2004;101:3: 495-507.

Michaelson JS, Satija S, Kopans DB, Moore RA, Silverstein, M, Comegno A, Hughes KS, Taghian A, Powell S, Smith, B:  Gauging the impact of breast cancer screening, in terms of tumor size and death rate.  Cancer2003:98(10):2114-2124

Cowden’s syndrome 

Marsh DJ, Caron S, Dahia PLM, Kum JB, Frayling IM, Tomlinson IPM, Hughes KS, Eeles RA, Hodgson SV, Murday VA, Houlston R, Eng C.:  Germline PTEN Mutations in Cowden Syndrome-like Families.  J Med Genet1998;35(11):881-5

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