DOCSLIB.ORG

Updates in Breast Cancer Genetics

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Updates in Breast Cancer Genetics Updates in Breast Cancer Genetics Jennifer Klemp, PhD, MPH Assistant Professor of Medicine, Division of Oncology Cancer Risk & Genetic Counseling Director, Cancer Survivorship Founder/CEO, Cancer Survivorship Training, Inc www.cancersurvivorshiptraining.com February 2014 This Workshop will Address the following: Many young women diagnosed with breast cancer make the decision to undergo genetic testing. In this session, you will hear about the genetics of breast cancer in young women and what information testing can provide. Also, our expert will discuss how and when genetic counseling can be useful– a first step toward understanding your individual and family risk including heredity and genetics. Learning Objectives The presentation will enable the participant to: 1. Risk Factors and Genetic Testing 2. Risk Estimation Models and Counseling a. Implications for you and your family 3. Screening Recommendations 4. Standard Risk Reduction Approaches Who is at high risk for cancer? Assessing Risk Major and Minor Risk Factors Major Risk Factors Minor Risk Factors >2-fold increase in risk >1 but <2-fold increase in risk Known germline mutation (ie. Early menarch (<12) BRCA1 or BRCA2 mutation) Nullparity/Late age of 1st live birth 1st degree relative (younger <50) Late menopause Chest radiation (<30y/o) Family history: multiple relatives including 2nd & 3rd degree Prior DCIS, LCIS, Atypia Combined estrogen & progestin Prior breast or ovarian cancer Serum hormones: sex hormones, Age >60 SHGB, insulin/growth factors Obesity/Inactivity Alcohol consumption Major Risk Factors: Risk Per Year Major Risk Factor Absolute Risk Relative Risk BRCA 1 or BRCA2 1-2% 10-20X Chest XRT <30 1-2% 10-20X DCIS (lump + XRT) 1% 10X LCIS 1% 10X Atypia & Family Hx 1% 8-10X Atypia 0.5% 4-5X Prior Invasive BrCa 0.75% 5-8X Age >60 (vs. age 30) 0.33% 10X Breast Cancer Risk Factors 16 14 Relative Risk 12 10 8 6 4 2 0 BRCA1or In-situ AH + FH AH HRT Early 1st Birth Obesity 2 Menarche Chance of Being at High/ Hereditary Risk 5-10% hereditary 10-15% familial 75-85% sporadic BRCA1/2 Mutations Responsible for a majority of “Hereditary Breast Cancers” Total Hereditary Breast Cancer BRCA1 or BRCA2 (>50-85%) Next Generation (15-30%) Hereditary vs Familial vs Sporadic Hereditary" Familial Clustering " Ov, 52" Br, 67" Br, 71" Br, 32" Br, 45" 2 Breast cancers under 50 Br, 58" and ovarian cancer, Multiple generations, 50% Sporadic" women affected Br, 63" Br, 71" Autosomal Dominant Pattern of Inheritance 50/50 Chance of inheriting Genetic mutation Affected Normal Father Mother Affected Normal Affected Normal Daughter Son Son Daughter Newly Diagnosed Capture Rate: 34% Leads to Survivor Patient Population AT RISK Missed Patients Y5 Missed Patients Y4 Missed Every year, more patientsPatients Y3are missed than tested Missed 1. Surveillance, Epidemiology, and End Results (SEER), Patients Y2 National Cancer Institute, 2012. http:// seer.cancer.gov/statistics/ 2. Eisenbraun et al. Hereditary Breast and Ovarian Cancer testing: integration and outcomes within Large Survivor community oncology practices. Comm Oncol. Missed 2010;7:75-81. 3. NCCN Clinical Practice Guidelines in Oncology v. Patients 4.2013 Genetic/Familial High-Risk Assessment: Patient Population Breast and Ovarian. Accessed at www.nccn.org Y1 4. Kerber RA, et al. Frequency of familial colon cancer and hereditary nonpolypsosis colorectal cancer (Lynch syndrome) in a large population database. Familial Cancer 2005;4:239-44. 5. Internal Myriad data National Capture Rate of Total At-Risk Patients = 20% BRCA Mutations Increase Risk of 2nd Primary Cancers BRCA1-Associated Cancers: Risk by age 70 Breast cancer 50-85% (often early age at onset) Second primary breast cancer 20%-60% Ovarian cancer 15-45% Possible increased risk of other cancers JCO 2004;22: 735-42; NCI 2005 BRCA2-Associated Cancers: Risk by age 70 Breast cancer Breast cancer (50-85%) (6%) Second primary breast cancer (20-60%) Ovarian cancer (10-27%) Prostate (20%) Increased risk of pancreatic cancer and melanoma JCO 2004;22: 735-42; NCI 2005 Next Generation/Multi-Gene Cancer Panels 1. Many patients with suggestive family histories test negative on standard testing a. Need for additional/expanded screening 2. Patients do not meet classic guidelines for hereditary cancer syndromes a. Variable expressivity and reduced penetrance 3. Many genes implicated in cancer a. Testing multiple genes simultaneously can be more time and cost effective 4. Overlapping phenotypes of different hereditary cancer syndromes Next Generation/Multi-Gene Testing • Currently moving from research to clinical Sample Panel: BRCA1/2, ATM, BARD1, BRIP1, CHEK2, – Research: limited eligibility CHD1, EPCAM, MLH1, MSH2, – Clinical: turn around time (pre-certification & testing) MSH6, MRE11A, MUTYH, NBN, PALB2, PMS1, PMS2, PTEN, – If positive: Lack of formal risk and surveillance recommendationsRAD50, RAD51C, STK11, TP53 • More likely to identify moderate-low penetrance genes – High number of variants of uncertain significance (VUS) • Free, accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence • ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/ • Sharing Clinical Reports Project (SCRP): http://sharingclinicalreports.org/index.html – Patient or Provider submission + reimbursement • LATER – Whole genome sequencing • Analysis of entire genetic makeup of an individual – Whole exome sequencing • Analysis of all coding regions of genetic material NextGen Testing: Who to test?? Cast the net widely, test nearly Test Selectively anyone • Pro • Pro — Higher penetrance — No sure approach for families excluding anyone — Easier to interpret and — Find more mutation carriers recommend • Con management — Difficult to interpret and • Con develop management — Missed mutations recommendations Always test the relative with the highest mutation probability in the family Reduce non-informative negative results Testing Process • Pre-test Counseling/Informed Consent — Possible results — Discuss VSB/VUS — Cancer risks — Clinical management — Costs/Pre-certification/Financial assistance • Post-test Counseling — Disclose/Discuss — Management plan — Implication for the family • Maintain contact files • Notify patients with variants are reclassified Rare changes in other genes associated with breast cancer. GENE DESCRIPTION PTEN Helps regulate cell growth. Causes Cowden syndrome leading to higher risk of both benign and cancerous tumors in the breast, digestive tract, thyroid, uterus, and ovaries. TP53 Provides instructions for making a protein to stop tumor growth. Causes Li-Fraumeni syndrome and increases soft tissue cancer at young ages and higher risk of BrCa, leukemia, brain tumors, and sarcomas. CHEK2 Provides instructions for making a protein to stop tumor growth. Causes Li-Fraumeni syndrome and can double breast cancer risk. CHD1 Supports protein growth that helps cell adherence and tissue formation. Increased risk of lobular BrCa and rare, early onset stomach cancer. PALB2 Supports protein growth that works with the BRCA2 protein to repair damaged DNA and stop tumor growth. Doubles BrCa Risk. Inheriting 2 abnormal PALB2 genes causes Fanconi anemia, higher risk of cancer, including kidney cancer and brain cancer ATM Helps repair damaged DNA. Linked to increased risk of BrCa Li-Fraumeni Syndrome Cowden Syndrome Not all Labs are created equally: BRCA1/2 & Panel Testing Options Risk Counseling & Testing ( For BRCA1/2 Mutations) Triple Negative Breast Cancer (TNBC) 207 patients with stage I-IV triple negative BrCa underwent Comp BRCA1/2 testing n Deleterious germline mutation in BRCA1 in 11.1% (23/207) and BRCA2 in 4.3% (9/207) of the patients, respectively, giving an overall prevalence rate of 15.4% (32/207). n Mutation rates in patients with or without SFH was 32.5% and 6.1%, respectively. When examined by age at diagnosis, the mutation rates were: 27.6% <50), 11.4% (51-60), and 4.9% (>61). If SFH or age <50, were the only criteria used 25% and 34% of mutations would have been missed. Sharma P, Klemp JR, et al., Prospective evaluation of BRCA mutations in a large triple-negative breast cancer (TNBC) registry: Implications for germ line testing. Abstract accepted for a oral poster presentation ASCO, Chicago, IL, 2013. Results TNBC and Hereditary BrCa n 77 TNBC from MD Anderson – Unselected for age and family history n 18.2% had deleterious germline mutations in BRCA1 or BRCA2 n Mutation carriers had better 5-year recurrence free survival (p = 0.016) Gonzales-Angulo TNBC and Hereditary BrCa Cont….. n 199 TNBC from community network – Unselected for age and family history n 10.6% found to have a deleterious mutation in BRCA1 or BRCA2 n Higher prevalence of BRCA2, not BRCA1 (unlike previous report) Hartman, AR Comparison- NCCN Guidelines What About DCIS? n Ductal carcinoma in situ (DCIS; also known as intraductal carcinoma) is the most common type of non-invasive breast cancer n About 1 in 5 new breast cancer cases will be DCIS n NCCN and Medicare criteria – Both include DCIS as an equal cancer to invasive breast cancer when considering who should get testing for BRCA1 or BRCA2 Cancer Risk Counseling and Genetic Testing “Who, When Why, and What?” Who to Test For BRCA1/2 n Have Breast Cancer and n No Breast Cancer but – Onset <age 45 – Known mutation in – Ovarian Cancer family – Onset < 50 and – First or second-degree another affected blood relative meeting relative <50 or NCCN criteria ovarian cancer – Family history – Male suggests hereditary – Triple-negative
Load more

Recommended publications
  • S41416-019-0446-1.Pdf
    www.nature.com/bjc ARTICLE Clinical Study International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation Kelly Metcalfe1,2, Andrea Eisen3, Leigha Senter4, Susan Armel5, Louise Bordeleau6, Wendy S. Meschino7, Tuya Pal8, Henry T. Lynch9, Nadine M. Tung10, Ava Kwong11,12,13, Peter Ainsworth14, Beth Karlan15, Pal Moller16,17,18, Charis Eng19, Jeffrey N. Weitzel20, Ping Sun1, Jan Lubinski21, Steven A. Narod1,22 and the Hereditary Breast Cancer Clinical Study Group BACKGROUND: Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017). METHODS: Eligible subjects were identified from an international database of female BRCA mutation carriers and included women from 59 centres from ten countries. Subjects completed a questionnaire at the time of genetic testing, which included past use of cancer prevention options and screening tests. Biennial follow-up questionnaires were administered. RESULTS: Six-thousand two-hundred and twenty-three women were followed for a mean of 7.5 years. The mean age at last follow- up was 52.1 years (27–96 years) and 42.3% of the women had a prior diagnosis of breast cancer. In all, 27.8% had a prophylactic bilateral mastectomy and 64.7% had a BSO. Screening with breast MRI increased from 70% before 2009 to 81% at or after 2009. There were significant differences in uptake of all options by country.
    [Show full text]
  • Physicians' Attitudes Towards Mammography and Prophylactic
    European Journal of Human Genetics (2000) 8, 204–208 y © 2000 Macmillan Publishers Ltd All rights reserved 1018–4813/00 $15.00 www.nature.com/ejhg ARTICLE Physicians’ attitudes towards mammography and prophylactic surgery for hereditary breast/ovarian cancer risk and subsequently published guidelines Claire Julian-Reynier1, Fran¸cois Eisinger2, Jean-Paul Moatti1 and Hagay Sobol2 1INSERM U379, and 2INSERM E9939, Paoli-Calmettes Institute, Marseilles, France After a BRCA mutation has been identified in the context of hereditary breast/ovarian cancer (HBOC), mammographic screening and prophylactic surgery are two of the main options available to those responsible for the clinical management of healthy women. The aim of this study was to describe the attitudes of specialists towards the clinical management of women with an HBOC risk: this information was collected prior to the publication of the recent French guidelines. A random national sample of 1169 French surgeons, gynaecologists and obstetricians was surveyed using a mailed questionnaire, to which 700 of these physicians (60%) responded. When dealing with a BRCA mutated woman, 88.6% of the respondents said they would recommend mammographic screening, but only 27.1% would recommend that it should be carried out annually from the age of 30 years onwards, as recommended in the French guidelines; 10.9% would find it acceptable to propose prophylactic mastectomy from the age of 30 years, and 22.9% would find it acceptable to propose prophylactic oophorectomy from the age of 35 years. The specialists who agreed with recommending breast/ovarian cancer genetic testing also had more positive attitudes towards prophylactic mastectomy (adj OR = 3.4, 95% CI = 1.4–8.2), as did those who had previously recommended prophylactic mastectomy when gene testing was not yet available (adj OR = 2.06, 95% CI = 1.23–3.44).
    [Show full text]
  • Breast Cancer Prevention.Pdf
    CANCER FACTS N a t i o n a l C a n c e r I n s t i t u t e • N a t i o n a l I n s t i t u t e s o f H e a l t h D e p a r t m e n t o f H e a l t h a n d H u m a n S e r v i c e s Breast Cancer Prevention Studies Key Points • Breast cancer prevention studies are clinical trials involving women who have not had cancer, but are at high risk of developing the disease. • In the Breast Cancer Prevention Trial (BCPT), the women who received tamoxifen had a lower incidence of breast cancer than the women who did not receive the drug. Results of this study were published in 1998 (see Breast Cancer Prevention Trial (BCPT) section). • Another trial, the Study of Tamoxifen and Raloxifene (STAR), is comparing raloxifene with tamoxifen. Results of this study are expected in 2006 (see Study of Tamoxifen and Raloxifene (STAR) section). • The Capital Area SERM Study is testing raloxifene in premenopausal women who are at high risk for breast cancer. A complete report of the findings will be published early in 2005 (see Capital Area SERM Study section). • Other breast cancer prevention studies are in progress (see Other Breast Cancer Prevention Studies section). Breast cancer prevention studies are clinical trials (research studies conducted with people) that explore ways of reducing the risk, or chance, of developing breast cancer.
    [Show full text]
  • Ht-Use-After-Preventive-Oophorectomy
    EMBARGOED UNTIL 12:01 A.M. WEDNESDAY, AUGUST 12, 2020 Contact: The North American Menopause Society Eileen Petridis ([email protected]) -or- Colleen O’Neill ([email protected]) Phone: (216) 696-0229 Age, Education, and Surgical History Affect Hormone Use After Oophorectomy New study identifies frequency of hormone therapy use and predictors of its use in women who underwent preventive oophorectomy as a result of carrying the BRCA gene CLEVELAND, Ohio (August 12, 2020)—Removal of the ovaries before natural menopause (surgical menopause) often exacerbates menopause symptoms and places women at increased risk for heart disease, osteoporosis, and cognitive decline. A new study identified the frequency of hormone therapy (HT) use and factors that determine who is more likely to use hormones after oophorectomy to manage symptoms. Study results are published online today in Menopause, the journal of The North American Menopause Society (NAMS). Women who carry the high-risk BRCA gene may be likely to develop ovarian cancer. As a result, these women often undergo an oophorectomy to mitigate the risk. However, the preventive removal of the ovaries before a woman reaches natural menopause typically creates added problems, including severe hot flashes, sleep disturbances, mood changes, vaginal dryness, and decreased libido, in addition to potential long-term adverse effects on health. Hormone therapy has proven to be one of the most effective means for managing these symptoms and reducing long-term risks, but its use is somewhat limited because of concerns in this population of an increased risk of breast cancer, which was shown in women with a uterus who used a combination of estrogen plus a progestin in the Women’s Health Initiative trials.
    [Show full text]
  • Choosing Between Medical Surveillance and Preventive Surgical Interventions Among Asymptomatic BRCA Positive Women
    Minnesota State University, Mankato Cornerstone: A Collection of Scholarly and Creative Works for Minnesota State University, Mankato All Graduate Theses, Dissertations, and Other Graduate Theses, Dissertations, and Other Capstone Projects Capstone Projects 2021 Choosing Between Medical Surveillance and Preventive Surgical Interventions Among Asymptomatic BRCA Positive Women Hillary Zupan Minnesota State University, Mankato Follow this and additional works at: https://cornerstone.lib.mnsu.edu/etds Part of the Oncology Commons, and the Women's Health Commons Recommended Citation Zupan, H. (2021). Choosing between medical surveillance and preventive surgical interventions among asymptomatic BRCA positive women [Master’s alternative plan paper, Minnesota State University, Mankato]. Cornerstone: A Collection of Scholarly and Creative Works for Minnesota State University, Mankato. https://cornerstone.lib.mnsu.edu/etds/1094/ This APP is brought to you for free and open access by the Graduate Theses, Dissertations, and Other Capstone Projects at Cornerstone: A Collection of Scholarly and Creative Works for Minnesota State University, Mankato. It has been accepted for inclusion in All Graduate Theses, Dissertations, and Other Capstone Projects by an authorized administrator of Cornerstone: A Collection of Scholarly and Creative Works for Minnesota State University, Mankato. 1 Choosing Between Medical Surveillance and Preventive Surgical Interventions Among Asymptomatic BRCA Positive Women Hillary Zupan School of Nursing, Minnesota State University, Mankato N695: Alternate Plan Paper Gwen Verchota, PhD, APRN-BC April 26, 2021 2 Abstract Women with a known BRCA 1 or BRCA 2 genetic mutation are at an increased risk for the development of cancer, most commonly breast and uterine types. Risk reduction strategies to manage cancer risk include increased medical surveillance and various preventive surgeries.
    [Show full text]
  • Breast Cancer of 56%-84%; the Lifetime Risk for Ovarian Cancer Is 36%-63% for BRCA1 Mutation Carriers and 10%-27% for BRCA2 Mutation Carriers
    Leonard Davis Institute of Health Economics Volume 16, Issue 2 • October/November 2010 Susan M. Domchek, MD Preventive surgery is associated with reduced LDI Senior Fellow, Associate Professor of Medicine cancer risk and mortality in women with University of Pennsylvania BRCA1 and BRCA2 mutations Timothy R. Rebbeck, PhD Editor’s Note: Women who have inherited mutations in the BRCA1 or BRCA2 Professor of Epidemiology (BRCA1/2) genes have a substantially elevated risk of developing breast and ovarian University of Pennsylvania cancer. For more than 10 years, researchers have studied whether preventive surgery (to remove breasts, ovaries, and/or fallopian tubes) can reduce the cancer and mortality risk in BRCA1/2 mutation carriers. This Issue Brief summarizes the results of the latest, largest, multinational study on the effects of preventive surgery in these women. The results are consistent with earlier studies and provide strong evidence for the use of preventive surgery as an effective approach to managing this genetic risk. Women with a BRCA1 or BRCA1/2 mutations confer a significant risk of breast and ovarian cancer. BRCA2 mutation face difficult Clinical management options for these high-risk women include preventive salpingo-oopherectomy, (removal of the ovaries and fallopian tubes), preventive decisions about how to mastectomy, regular cancer screening, and chemoprevention. Each woman faces a reduce their risk of breast complex and difficult decision about these options. or ovarian cancer • BRCA1 and BRCA2 mutation carriers have a lifetime risk for breast cancer of 56%-84%; the lifetime risk for ovarian cancer is 36%-63% for BRCA1 mutation carriers and 10%-27% for BRCA2 mutation carriers.
    [Show full text]
  • Nipple-Sparing Mastectomy in Women at High Risk of Developing Breast Cancer
    336 Review Article Nipple-sparing mastectomy in women at high risk of developing breast cancer Rebecca S. Lewis1, Angela George2, Jennifer E. Rusby1 1Department of Breast Surgery, Royal Marsden NHS Foundation Trust and the Institute for Cancer Research, Sutton, UK; 2Department of Cancer Genetics, Institute for Cancer Research and the Royal Marsden NHS Foundation Trust, Sutton, UK Contributions: (I) Conception and design: RS Lewis, JE Rusby; (II) Administrative support: None; (III) Provision of study materials or patients: None; (IV) Collection and assembly of data: RS Lewis, A George, JE Rusby; (V) Data analysis and interpretation: A George, JE Rusby; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors. Correspondence to: Jennifer E. Rusby. Department of Breast Surgery, Royal Marsden NHS Foundation Trust and the Institute for Cancer Research, Sutton, UK. Email: [email protected]. Abstract: Nipple-sparing mastectomy is a valuable addition to the options available for women at high risk of developing breast cancer. In this review, we summarize current knowledge about the high-risk genes, BRCA1, BRCA2 and TP53 and the associated guidelines with regard to risk-reducing surgery. We consider other genetic risks and high-risk lesions. We discuss the literature on bilateral mastectomy for breast cancer risk-reduction, and the results of nipple-sparing mastectomy in particular. Finally, we report on patient satisfaction with these procedures and the impact that nipple-sparing mastectomy may have on women at high-risk of breast cancer. Keywords: Breast cancer; nipple-sparing mastectomy; high-risk Submitted Jan 21, 2018. Accepted for publication Mar 28, 2018.
    [Show full text]
  • Breast Cancer Facts & Figures 2019-2020
    Breast Cancer Facts & Figures 2019-2020 Contents Breast Cancer Basic Facts 1 Breast Cancer Risk Factors 12 Figure 1. Distribution of Female Breast Cancer Subtypes, Table 4. Factors That Increase the Relative Risk for Invasive Breast US, 2012-2016 2 Cancer in Women 13 Breast Cancer Occurrence 3 Breast Cancer Screening 20 Table 1. Estimated New DCIS and Invasive Breast Cancer Table 5. Mammography (%), Women 45 and Older, Cases and Deaths among Women by Age, US, 2019 3 US, 2018 21 Table 2. Age-specific Ten-year Probability of Breast Cancer Table 6. Mammography (%) by State, Women 45 Diagnosis or Death for US Women 4 and Older, 2016 22 Figure 2. Age-specific Female Breast Cancer Incidence Rates by Race/Ethnicity, US, 2012-2016 4 Breast Cancer Treatment 23 Figure 3. Female Breast Cancer Incidence (2012-2016) Figure 12. Female Breast Cancer Treatment Patterns (%), and Death (2013-2017) Rates by Race/Ethnicity, US 5 by Stage, US, 2016 24 Figure 4. Distribution of Breast Cancer Subtypes by What Is the American Cancer Society Doing Race/Ethnicity, Ages 20 and Older, US, 2012-2016 5 about Breast Cancer? 26 Figure 5. Female Breast Cancer Stage Distribution by Race/Ethnicity, Ages 20 and Older, US, 2012-2016 6 Sources of Statistics 30 Figure 6. Trends in Incidence Rates of Ductal Carcinoma References 32 In Situ and Invasive Female Breast Cancer by Age, US, 1975-2016 7 Figure 7. Trends in Female Breast Cancer Incidence Rates by Race/Ethnicity, US, 2001-2016 8 Figure 8. Trends in Female Breast Cancer Death Rates by Race/Ethnicity, US, 1975-2017 8 Table 3.
    [Show full text]
  • Information for Women Considering Preventative Mastectomy
    INFORMATION FOR WOMEN CONSIDERING PREVENTIVE MASTECTOMY INFORMATION BECAUSE OF A STRONG FAMILY HISTORY OF BREAST CANCER Developed by the Hereditary Cancer Clinic, Prince of Wales Hospital and the Centre for Genetics Education, NSW Health, Royal North Shore Hospital, Sydney, NSW 1 This booklet was developed and printed with the support of the: Hereditary Cancer Clinic, Prince of Wales Hospital CONTENTS Centre for Genetics Education, NSW Health, Royal North Shore Hospital Cancer Council NSW Previous print: April 2003; 2008 Current print: April 2012 2 CC mastectomy booklet[V8].indd 2 22/10/08 8:40:25 PM Contents 04 Introduction 05 Booklet aims 06 Options for women with a strong family history ? 08 What does preventive mastectomy surgery involve CONTENTS 11 Can breast cancer risk be reduced or eliminated? 15 Breast reconstruction 17 Advantages and disadvantages 18 Cost and other factors 19 Additional information 20 Hospital stay and recovery 21 Possible complications 23 Making the decision 25 The reactions of family and friends 26 After the mastectomy 27 Sexuality 28 Where you can get information and support 29 Contact details 33 More information 34 References 35 Acknowledgements 37 Questions and notes This booklet was originally developed and produced with support from the National Breast Cancer Centre. The 2008 update was funded by a Strategic Research Partnership Grant from Cancer Council NSW. 3 CC mastectomy booklet[V8].indd 3 22/10/08 8:40:25 PM INTRODUCTION This booklet is intended for women with a strong family history of breast cancer who may be considering the option of surgical removal of their breasts as a way of reducing their risk of developing breast cancer.
    [Show full text]
  • Preventive Mastectomy in Patients at Breast Cancer Risk Due to Genetic
    Langenbecks Arch Surg (2003) 388:3–8 DOI 10.1007/s00423-003-0355-9 CURRENT CONCEPTS IN CLINICAL SURGERY Susanne Taucher Preventive mastectomy in patients Michael Gnant Raimund Jakesz at breast cancer risk due to genetic alterations in the BRCA1 and BRCA2 gene Received: 4 November 2002 Abstract Background: The avail- cancer risk in high-risk patients are Accepted: 17 January 2003 ability of genetic testing for inherited often strongly recommended. A pa- Published online: 21 February 2003 mutations in the BRCA1 and BRCA2 tient’s life-time risk to develop © Springer-Verlag 2003 gene provides potentially valuable breast cancer in the presence of information to women at high risk of BRCA1 and BRCA2 mutations is breast and ovarian cancer. Methods 50–90%. Despite the reduction in the and focus: We review the literature risk of developing breast cancer, pro- on the value of prophylactic surgical phylactic mastectomy often leads to S. Taucher (✉) · M. Gnant · R. Jakesz strategies in patients with hereditary significant physical and psychologi- Department of Surgery, Medical School, predisposition to develop breast can- cal sequelae. Vienna University, cer and discuss the surgical options Waehringer Guertel 18–20, 1090 Vienna, available in high-risk cancer pa- Keywords BRCA1 · BRCA2 · Austria e-mail: [email protected] tients, decision analyses, and possi- Prophylactic mastectomy · Breast Tel.: +43-1-404005621 ble complications. Results: Preven- cancer · Oophorectomy Fax: +43-1-404005641 tive surgical interventions to reduce Introduction Women who carry germline BRCA1 and BRCA2 mu- tations have a strongly increased risk of breast and ovari- The BRCA1 and BRCA2 genes encode proteins that par- an cancer.
    [Show full text]
  • Angelina Jolie's Faulty Gene: Newspaper Coverage of a Celebrity's
    ORIGINAL RESEARCH ARTICLE © American College of Medical Genetics and Genomics Angelina Jolie’s faulty gene: newspaper coverage of a celebrity’s preventive bilateral mastectomy in Canada, the United States, and the United Kingdom Kalina Kamenova, PhD1, Amir Reshef, MBA1 and Timothy Caulfield, LLM, FRSC1,2 Purpose: This study investigates the portrayal of Angelina Jolie’s pre- women at high risk of hereditary breast/ovarian cancer, important ventive bilateral mastectomy in the news media. Content analysis of medical information about the rarity of Jolie’s condition was not print news was conducted to identify major frames used in press cov- communicated to the public. erage, the overall tone of discussions, how journalists report broader questions about BRCA1/2 testing and hereditary breast/ovarian can- Conclusion: The results highlight the media’s overwhelmingly posi- cer, and whether they raise concerns about the impact of celebrities tive slant toward Jolie’s mastectomy, while overlooking the relative on patients’ choices and public opinion. rarity of her situation, the challenges of “celebrity medicine,” and how celebrities influence people’s medical decisions. Future research Methods: The Factiva database was used to collect publications on is required to investigate whether the media hype has influenced Jolie’s preventive mastectomy in elite newspapers in Canada, the demand and use of BRCA1/2 testing and preventive mastectomies. United States, and the United Kingdom. The data set consisted of 103 newspaper articles published in the first month of media coverage. Genet Med advance online publication 19 December 2013 Results: The results show that although the press discussed key issues Key Words: BRCA genetic testing; content analysis; hereditary surrounding predictive genetic testing and preventive options for breast and ovarian cancer; newspapers; preventive mastectomy INTRODUCTION the limelight.
    [Show full text]
  • Breast Cancer Mortality Among Women with a BRCA1 Or BRCA2 Mutation in a Magnetic Resonance Imaging Plus Mammography Screening Program
    cancers Article Breast Cancer Mortality among Women with a BRCA1 or BRCA2 Mutation in a Magnetic Resonance Imaging Plus Mammography Screening Program 1, 1 2 1, 1 Ellen Warner * , Siqi Zhu , Donald B. Plewes , Kimberley Hill y, Elizabeth A. Ramsay , 1, 3 1 1 4 Petrina A. Causer z, Jean Seely , Roberta A. Jong , Pamela Lenkov , Christine Elser , Pavel Crystal 5,§, Martin J. Yaffe 1,2 , Vasily Giannakeas 6, Ping Sun 6 and Steven A. Narod 6 1 Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto, ON M4N 3M5, Canada; [email protected] (S.Z.); [email protected] (K.H.); [email protected] (E.A.R.); [email protected] (P.A.C.); [email protected] (R.A.J.); [email protected] (P.L.); martin.yaff[email protected] (M.J.Y.) 2 Department of Medical Biophysics, University of Toronto, Toronto, ON M5G 1L7, Canada; [email protected] 3 Department of Radiology, University of Ottawa, Ottawa, ON K1N 6N5, Canada; [email protected] 4 Marvelle Koffler Breast Centre, Mt. Sinai Hospital, Toronto, ON M5G 1X5, Canada; [email protected] 5 Department of Medical Imaging, University Health Network, Toronto, ON M5T 1W7, Canada; [email protected] 6 Women’s College Research Institute, University of Toronto, Toronto, ON M5G 1N8, Canada; [email protected] (V.G.); [email protected] (P.S.); [email protected] (S.A.N.) * Correspondence: [email protected]; Tel.: +1-416-480-4617 Present address: Grand River Hospital, 835 King Street W, Kitchener, ON N2A 4W1, Canada.
    [Show full text]