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Management of the Patient with a Genetic Predisposition for Breast Cancer

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Management of Breast Diseases
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Abstract

The identification and management of individuals with a genetic risk for breast cancer have changed dramatically over the past few years. Mutations in genes besides BRCA1 and BRCA2 have been associated with hereditary breast cancer risk. Genetic testing technology has improved allowing for the testing of numerous genes at once. As our understanding of the cancer risks conferred by different mutations has deepened, cancer screening and risk reduction recommendations for affected individuals have changed. Many families with a history of breast cancer have no identifiable causative genetic mutation, however, they are still at increased risk due to a combination of unknown genetic factors, as well as environmental and lifestyle effects. Current methods for risk assessment, genetic counseling and testing, and management of individuals at hereditary risk for breast cancer will be covered, as well as resources for including these activities into clinical practice.

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References

  1. Lynch HT, Lynch JF. Breast cancer genetics in an oncology clinic: 328 consecutive patients. Cancer Genet Cytogenet. 1986;22(4):369–71.

    Article  CAS  PubMed  Google Scholar 

  2. Jain R, et al. The relevance of hereditary cancer risks to precision oncology: what should providers consider when conducting tumor genomic profiling? J Natl Compr Canc Netw. 2016;14(6):795–806.

    CAS  PubMed  Google Scholar 

  3. Easton DF, et al. Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med. 2015;372(23):2243–57.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Mavaddat N et al. Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst. 2015;107(5).

    Google Scholar 

  5. Evans DG, et al. Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention. Cancer Prevent Res. 2012;5(7):943–51.

    Article  Google Scholar 

  6. Ford D, et al. Risks of cancer in BRCA1-mutation carriers. Breast cancer linkage consortium. Lancet. 1994;343(8899):692–5.

    Article  CAS  PubMed  Google Scholar 

  7. Frank TS, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998;16(7):2417–25.

    Article  CAS  PubMed  Google Scholar 

  8. Ford D, Easton DF, Peto J. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence. Am J Hum Genet. 1995;57(6):1457–62.

    CAS  PubMed  PubMed Central  Google Scholar 

  9. National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. V.1.2017. 2016.

    Google Scholar 

  10. Metcalfe KA, et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol. 2010;28(3):387–91.

    Article  CAS  PubMed  Google Scholar 

  11. Petrij-Bosch A, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet. 1997;17(3):341–5.

    Article  CAS  PubMed  Google Scholar 

  12. Johannesdottir G, et al. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res. 1996;56(16):3663–5.

    CAS  PubMed  Google Scholar 

  13. Mavaddat N. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. 2013;105(11):812–22.

    Google Scholar 

  14. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25(11):1329–33.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Antoniou A, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117–30.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  16. Liede A, Karlan BY, Narod SA. Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol. 2004;22(4):735–42.

    Article  CAS  PubMed  Google Scholar 

  17. Schneider BP, et al. Triple-negative breast cancer: risk factors to potential targets. Clin Cancer Res. 2008;14(24):8010–8.

    Article  CAS  PubMed  Google Scholar 

  18. Lakhani SR, et al. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol. 2002;20(9):2310–8.

    Article  CAS  PubMed  Google Scholar 

  19. Bane AL, et al. BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays. Am J Surg Pathol. 2007;31(1):121–8.

    Article  PubMed  Google Scholar 

  20. Lu KH, et al. Occult ovarian tumors in women with BRCA1 or BRCA2 mutations undergoing prophylactic oophorectomy. J Clin Oncol. 2000;18(14):2728–32.

    Article  CAS  PubMed  Google Scholar 

  21. Sherman ME, et al. Histopathologic features of ovaries at increased risk for carcinoma. A case-control analysis. Int J Gynecol Pathol. 1999;18(2):151–7.

    Article  CAS  PubMed  Google Scholar 

  22. Levine DA, et al. Fallopian tube and primary peritoneal carcinomas associated with BRCA mutations. J Clin Oncol. 2003;21(22):4222–7.

    Article  CAS  PubMed  Google Scholar 

  23. Harmsen MG, et al. Early salpingectomy (TUbectomy) with delayed oophorectomy to improve quality of life as alternative for risk-reducing salpingo-oophorectomy in BRCA1/2 mutation carriers (TUBA study): a prospective non-randomized multicentre study. BMC Cancer. 2015;15:593.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  24. Anon (1999) Cancer risks in BRCA2 mutation carriers. The breast cancer linkage consortium. J Natl Cancer Inst. 1999;91(15):1310–6.

    Google Scholar 

  25. Domchek SM, Weber BL. Clinical management of BRCA1 and BRCA2 mutation carriers. Oncogene. 2006;25(43):5825–31.

    Article  CAS  PubMed  Google Scholar 

  26. Agalliu I, et al. Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. Clin Cancer Res. 2009;15(3):1112–20.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  27. Narod SA, et al. Rapid progression of prostate cancer in men with a BRCA2 mutation. Br J Cancer. 2008;99(2):371–4.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Castro E, et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol. 2013;31(14):1748–57.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Howlett NG, et al. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002;297(5581):606–9.

    Article  CAS  PubMed  Google Scholar 

  30. Schreibman IR, et al. The hamartomatous polyposis syndromes: a clinical and molecular review. Am J Gastroenterol. 2005;100(2):476–90.

    Article  PubMed  Google Scholar 

  31. Pilarski R, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.

    Article  CAS  PubMed  Google Scholar 

  32. Tan MH, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18(2):400–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumor syndrome. J Med Genet. 2004;41(5):323–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  34. Olivier M, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003;63(20):6643–50.

    CAS  PubMed  Google Scholar 

  35. Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat. 2003;21(3):313–20.

    Article  CAS  PubMed  Google Scholar 

  36. Lustbader ED, et al. Segregation analysis of cancer in families of childhood soft tissue sarcoma patients. Am J Hum Genet. 1992;51(2):344–56.

    CAS  PubMed  PubMed Central  Google Scholar 

  37. Birch JM, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene. 2001;20(34):4621–8.

    Article  CAS  PubMed  Google Scholar 

  38. Hisada M, et al. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998;90(8):606–11.

    Article  CAS  PubMed  Google Scholar 

  39. Villani A, et al. Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol. 2011;12(6):559–67.

    Article  CAS  PubMed  Google Scholar 

  40. Giardiello FM, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987;316(24):1511–4.

    Article  CAS  PubMed  Google Scholar 

  41. Hearle N, et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res. 2006;12(10):3209–15.

    Article  CAS  PubMed  Google Scholar 

  42. Mehenni H, et al. Cancer risks in LKB1 germline mutation carriers. Gut. 2006;55(7):984–90.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  43. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006;4(4):408–15.

    Article  PubMed  Google Scholar 

  44. Hansford S et al. Hereditary diffuse gastric cancer syndrome: CDH1 mutations and beyond. JAMA Oncol. 2015;1(1):23–32.

    Google Scholar 

  45. van der Post RS, et al. Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers. J Med Genet. 2015;52(6):361–74.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  46. Petridis C, et al. Germline CDH1 mutations in lobular carcinoma in situ. Br J Cancer. 2014;110(4):1053–7.

    Article  CAS  PubMed  Google Scholar 

  47. Xia B, et al. Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2. Mol Cell. 2006;22(6):719–29.

    Article  CAS  PubMed  Google Scholar 

  48. Antoniou AC, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014;371(6):497–506.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  49. Schneider R, et al. German national case collection for familial pancreatic cancer (FaPaCa): 10 years experience. Fam Cancer. 2011;10(2):323–30.

    Article  PubMed  Google Scholar 

  50. Tischkowitz M, et al. PALB2/FANCN: recombining cancer and Fanconi Anemia. Cancer Res. 2010;70(19):7353–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  51. Geoffroy-Perez B, et al. Cancer risk in heterozygotes for ataxia-telangiectasia. Int J Cancer. 2001;93(2):288–93.

    Article  CAS  PubMed  Google Scholar 

  52. Marabelli M, Cheng SC, Parmigiani G. Penetrance of ATM gene mutations in breast cancer: a meta-analysis of different measures of risk. Genet Epidemiol. 2016;40(5):425–31.

    Article  PubMed  Google Scholar 

  53. Tavtigian S, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009;85(4):427–46.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Roberts NJ, et al. ATM mutations in hereditary pancreatic cancer. Cancer Discov. 2012;2(1):41–6.

    Article  CAS  PubMed  Google Scholar 

  55. Schmidt MK et al. Age- and tumor subtype-specific breast cancer risk estimates for CHEK2*1100delC Carriers. J Clin Oncol. 2016; Epub ahead of print: June 6, 2016.

    Google Scholar 

  56. Weischer M, et al. CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analysis of 26,000 patient cases and 27,000 controls. J Clin Oncol. 2008;26(4):542–8.

    Article  PubMed  Google Scholar 

  57. Cybulski C, et al. CHEK2 is a multiorgan cancer susceptibility gene. Am J Hum Genet. 2008;75(6):1131–5.

    Article  Google Scholar 

  58. Damiola F, et al. Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibilty: results from a breast cancer family registry case-control mutation screening study. Breast Cancer Res. 2014;16(3):R58.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  59. Ito A, et al. Expression of full-length NBS1 protein restores normal radiation responses in cells from Nijmegen breakage syndrome patients. Biochem Biophys Res Commun. 1999;265(3):716–21.

    Article  CAS  PubMed  Google Scholar 

  60. Bennett IC, Gattas M, Teh BT. The management of familial breast cancer. Breast. 2000;9(5):247–63.

    Article  CAS  PubMed  Google Scholar 

  61. Hoskins KF, et al. Assessment and counseling for women with a family history of breast cancer. A guide for clinicians. JAMA. 1995;273(7):577–85.

    CAS  PubMed  Google Scholar 

  62. Bennett RL, et al. Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors. J Genet Couns. 2008;17(5):424–33.

    Article  PubMed  Google Scholar 

  63. Schneider KA, et al. Accuracy of cancer family histories: comparison of two breast cancer syndromes. Genet Test. 2004;8(3):222–8.

    Article  PubMed  Google Scholar 

  64. Kerber RA, Slattery ML. Comparison of self-reported and database-linked family history of cancer data in a casecontrol study. Am J Epidemiol. 1997;146(3):244–8.

    Article  CAS  PubMed  Google Scholar 

  65. Ziogas A, Anton-Culver H. Validation of family history data in cancer family registries. Am J Prev Med. 2003;24(2):190–8.

    Article  PubMed  Google Scholar 

  66. Acheson LS, et al. Family history-taking in community family practice: implications for genetic screening. Genet Med. 2000;2(3):180–5.

    Article  CAS  PubMed  Google Scholar 

  67. Weitzel JN, et al. Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA. 2007;297(23):2587–95.

    Article  CAS  PubMed  Google Scholar 

  68. Calle EE, et al. Overweight, obesity, and mortality from cancer in a prospectively studied cohort of U.S. adults. N Engl J Med. 2003;348(17):1625–38.

    Article  PubMed  Google Scholar 

  69. Boffetta P, Hashibe M. Alcohol and cancer. Lancet Oncol. 2006;7(2):149–56.

    Article  CAS  PubMed  Google Scholar 

  70. Boffetta P, et al. The burden of cancer attributable to alcohol drinking. Int J Cancer. 2006;119(4):884–7.

    Article  CAS  PubMed  Google Scholar 

  71. Boyd NF, et al. Mammographic density and the risk and detection of breast cancer. N Engl J Med. 2007;356(3):227–36.

    Article  CAS  PubMed  Google Scholar 

  72. Zheng T, et al. Radiation exposure from diagnostic and therapeutic treatments and risk of breast cancer. Eur J Cancer Prev. 2002;11(3):229–35.

    Article  CAS  PubMed  Google Scholar 

  73. El-Gamal H, Bennett RG. Increased breast cancer risk after radiotherapy for acne among women with skin cancer. J Am Acad Dermatol. 2006;55(6):981–9.

    Article  PubMed  Google Scholar 

  74. Hopwood P, et al. Do women understand the odds? Risk perceptions and recall of risk information in women with a family history of breast cancer. Community Genet. 2003;6(4):214–23.

    PubMed  Google Scholar 

  75. Woloshin S, Schwartz LM, Welch HG. Risk charts: putting cancer in context. J Natl Cancer Inst. 2002;94(11):799–804.

    Article  PubMed  Google Scholar 

  76. Prasad K, et al. Tips for teachers of evidence-based medicine: understanding odds ratios and their relationship to risk ratios. J Gen Intern Med. 2008;23(5):635–40.

    Article  PubMed  PubMed Central  Google Scholar 

  77. Slattery ML, Kerber RA. A comprehensive evaluation of family history and breast cancer risk; the Utah Population Database. JAMA. 1993;270:1563.

    Article  CAS  PubMed  Google Scholar 

  78. Gail MH, Benichou J. Validation studies on a model for breast cancer risk. J Natl Cancer Inst. 1994;86(8):573–5.

    Article  CAS  PubMed  Google Scholar 

  79. Rockhill B, et al. Validation of the Gail et al model of breast cancer risk prediction and implications for chemoprevention. J Natl Cancer Inst. 2001;93(5):358–66.

    Article  CAS  PubMed  Google Scholar 

  80. Claus EB, et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77(11):2318–24.

    Article  CAS  PubMed  Google Scholar 

  81. Berry DA, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol. 2002;20(11):2701–12.

    Article  CAS  PubMed  Google Scholar 

  82. Gilpin CA, Carson N, Hunter AG. A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clin Genet. 2000;58(4):299–308.

    Article  CAS  PubMed  Google Scholar 

  83. Parmigiani G, Berry D, Aguilar O. Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet. 1998;62(1):145–58.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  84. Antoniou AC, et al. BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families. Breast Cancer Res. 2006;8(1):R3.

    Article  PubMed  CAS  Google Scholar 

  85. Lee AJ et al. Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model. Genet in Med. 2016; Epub April 14, 2016.

    Google Scholar 

  86. Trepanier A, et al. Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. J Genet Couns. 2004;13(2):83–114.

    Article  PubMed  Google Scholar 

  87. Kinney AY. Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. J Natl Cancer Inst. 2014;106(12).

    Google Scholar 

  88. Gabai-Kapara E. Population-based screening for breast and ovarian cancer risk due to BRCA1 and BRCA2. Proc Natl Acad Sci USA. 2014;111(39):14205–10.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  89. Claes E, et al. Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet A. 2003;116(1):11–9.

    Article  Google Scholar 

  90. Press N, et al. Women’s interest in genetic testing for breast cancer susceptibility may be based on unreasonable expectations. Am J Med Genet. 2001;99:99–110.

    Article  CAS  PubMed  Google Scholar 

  91. Hudson KL, et al. Genetic discrimination and health insurance: an urgent need for reform. Science. 1995;270(5235):391–3.

    Article  CAS  PubMed  Google Scholar 

  92. Hudson KL, Holohan MK, Collins FS. Keeping pace with the times–the genetic information nondiscrimination act of 2008. N Engl J Med. 2008;358(25):2661–3.

    Article  CAS  PubMed  Google Scholar 

  93. Bradbury AR, et al. How often do BRCA mutation carriers tell their young children of the family’s risk for cancer? A study of parental disclosure of BRCA mutations to minors and young adults. J Clin Oncol. 2007;25(24):3705–11.

    Article  PubMed  Google Scholar 

  94. Bradbury AR, et al. Should genetic testing for BRCA1/2 be permitted for minors? Opinions of BRCA mutation carriers and their adult offspring. Am J Med Genet C Semin Med Genet. 2008;148C(1):70–7.

    Article  PubMed  Google Scholar 

  95. Bradbury AR et al. When parents disclose BRCA1/2 test results: their communication and perceptions of offspring response. 2012;118(13):3417–25.

    Google Scholar 

  96. den Dunnen JT, et al. HGVS recommendations for description of sequence variants: 2016 Update. Hum Mutat. 2016;37(6):564–9.

    Article  CAS  Google Scholar 

  97. Plon S, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat. 2008;29(11):1282–91.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  98. Warner E, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA. 2004;292(11):1317–25.

    Article  CAS  PubMed  Google Scholar 

  99. Plevritis SK, et al. Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging. JAMA. 2006;295(20):2374–84.

    Article  CAS  PubMed  Google Scholar 

  100. Gail MH, et al. Weighing the risks and benefits of tamoxifen treatment for preventing breast cancer. J Natl Cancer Inst. 1999;91(21):1829–46.

    Article  CAS  PubMed  Google Scholar 

  101. Hendrick RE, et al. Benefit of screening mammography in women aged 40–49: a new meta-analysis of randomized controlled trials. J Natl Cancer Inst Monogr. 1997;22:87–92.

    Article  Google Scholar 

  102. Moss SM, et al. Effect of mammographic screening from age 40 years on breast cancer mortality at 10 years’ follow-up: a randomized controlled trial. Lancet. 2006;368(9552):2053–60.

    Article  PubMed  Google Scholar 

  103. Passaperuma K, et al. Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer. 2012;107:24–30.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  104. Pijpe A, et al. Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK). BMJ. 2012;345:e5660.

    Article  PubMed  PubMed Central  Google Scholar 

  105. Lowry KP, et al. Annual screening strategies in BRCA1 and BRCA2 gene mutation carriers: a comparative effectiveness analysis. Cancer. 2012;118:2021–30.

    Article  PubMed  Google Scholar 

  106. Baxter N. Preventive health care, 2001 update: should women be routinely taught breast self-examination to screen for breast cancer? CMAJ. 2001;164(13):1837–46.

    CAS  PubMed  PubMed Central  Google Scholar 

  107. Saslow D, et al. Clinical Breast Examination: Practical Recommendations for Optimizing Performance and Reporting. CA Cancer J Clin. 2004;54:327–44.

    Article  PubMed  Google Scholar 

  108. Gaskie S, Nashelsky J. Clinical inquires. Are breast self-exams or clinical exams effective for screening breast cancer. J Fam Pract. 2005;54(9):803–4.

    PubMed  Google Scholar 

  109. Fisher B, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst. 1998;90(18):1371–88.

    Article  CAS  PubMed  Google Scholar 

  110. Gronwald J, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer. 2006;118:2281–4.

    Article  CAS  PubMed  Google Scholar 

  111. King MC, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) breast cancer prevention trial. JAMA. 2001;286:2251–6.

    Article  CAS  PubMed  Google Scholar 

  112. Vogel VG, et al. Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: the NSABP Study of Tamoxifen and Raloxifene (STAR) P-2 trial. JAMA. 2006;295(23):2727–41.

    Article  CAS  PubMed  Google Scholar 

  113. Cuzick J, et al. Anastrozole for prevention of breast cancer in high-risk postmenopausal women (IBIS-II): an international, double-blind, randomised placebo-controlled trial. Lancet. 2014;383:1041–8.

    Article  CAS  PubMed  Google Scholar 

  114. Goss PE, et al. Exemestane for breast-cancer prevention in postmenopausal women. N Engl J Med. 2011;364:2381–91.

    Article  CAS  PubMed  Google Scholar 

  115. Kauff ND, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. J Clin Oncol. 2008;26(8):1331–7.

    Article  PubMed  PubMed Central  Google Scholar 

  116. Greene MH et al. A prospective study of risk-reducing salpingo-oophorectomy and longitudinal CA-125 screening among women at increased genetic risk of ovarian cancer: design Prev. 2008;17(3):594–604.

    Google Scholar 

  117. Rebbeck TR, et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol. 2005;23(31):7804–10.

    Article  CAS  PubMed  Google Scholar 

  118. Rebbeck TR, Kauff ND, Domchek SM. Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst. 2009;101:80–7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  119. Gabriel CA, et al. Use of total abdominal hysterectomy and hormone replacement therapy in BRCA1 and BRCA2 mutation carriers undergoing risk-reducing salpingo-oophorectomy. Fam Cancer. 2009;8(1):23–8.

    Article  CAS  PubMed  Google Scholar 

  120. Rebbeck TR, et al. Effect of short-term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol. 2005;23(31):7804–10.

    Article  CAS  PubMed  Google Scholar 

  121. Hartmann LC, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340(2):77–84.

    Article  CAS  PubMed  Google Scholar 

  122. Hartmann LC, Degnim A, Schaid DJ. Prophylactic mastectomy for BRCA1/2 carriers: progress and more questions. J Clin Oncol. 2004;22(6):981–3.

    Article  PubMed  Google Scholar 

  123. Rebbeck TR, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE study group. J Clin Oncol. 2004;22(6):1055–62.

    Article  PubMed  Google Scholar 

  124. Clarke M. Early Breast Cancer Trialists’ Collaborative Group (EBCTCG). Effects of radiotherapy and of differences in the extent of surgery for early breast cancer on local recurrence and 15-year survival: an overview of the randomised trials. Lancet. 2005;366(9503):2087–106.

    Article  CAS  PubMed  Google Scholar 

  125. Valsecchi ME, et al. Role of carboplatin in the treatment of triple negative early-stage breast cancer. Rev Recent Clin Trials. 2015;10(2):101–10.

    Article  CAS  PubMed  Google Scholar 

  126. Livraghi L, Garber JE. PARP inhibitors in the management of breast cancer: current data and future prospects. BMC Med. 2015;13:188.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  127. Patenaude AF, et al. Sharing BRCA1/2 test results with first-degree relatives: factors predicting who women tell. J Clin Oncol. 2006;24(4):700–6.

    Article  PubMed  Google Scholar 

  128. MacDonald DJ, et al. Selection of family members for communication of cancer risk and barriers to this communication before and after genetic cancer risk assessment. Genet Med. 2007;9(5):275–82.

    Article  PubMed  Google Scholar 

  129. McGivern B, et al. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med. 2004;6(6):503–9.

    Article  CAS  PubMed  Google Scholar 

  130. Forrest LE, et al. Increased genetic counseling support improves communication of genetic information in families. Genet Med. 2008;10(3):167–72.

    Article  PubMed  Google Scholar 

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Colonna, S., Gammon, A. (2016). Management of the Patient with a Genetic Predisposition for Breast Cancer. In: Jatoi, I., Rody, A. (eds) Management of Breast Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-46356-8_31

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