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Genetically Based Breast Cancer: Risk Assessment, Counseling, and Testing

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Breast Disease

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Abstract

Great progress has been made in our understanding of the factors associated with breast cancer, the most common cancer in women both in the United States and in the world. There is ample evidence that several epidemiologic risk factors, including age, ethnicity, mammographic density, reproductive factors, a history of benign breast disease, exposures to radiation, alcohol consumption, and exogenous hormones, are related to the risk of developing breast cancer. Recently, the genetic basis of breast cancer has been explored, and specific germline mutations have been identified as likely responsible for 5–10% of all breast cancers. Mutations in the BRCA1 and BRCA2 gene account for the largest share of hereditary breast cancer. Other hereditary syndromes associated with an increased risk for breast cancer include Li-Fraumeni syndrome (TP53), Cowden syndrome (PTEN), Peutz-Jeghers syndrome (STK11), and diffuse gastric cancer syndrome (CDH1). Genetic counseling and testing for these syndromes are clinically available. The counseling process provides information on the genetic, biological, and environmental factors associated with an individual’s risk for cancer, facilitates the testing and interpretation of genetic test results, provides appropriate options and recommendations for prevention and screening, and offers psychological support to individuals and families in coping with their genetic risk. Risk management strategies include aggressive screening protocols, chemoprevention, surgical prophylaxis, and lifestyle changes.

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Abbreviations

ACS:

American Cancer Society

AJ:

Ashkenazi Jews

ASCO:

American Society of Clinical Oncology

ER+:

Estrogen receptor positive

FDA:

Food and Drug Administration

FLB:

First live birth

HBOC:

Hereditary breast-ovarian cancer

HDGC:

Hereditary diffuse gastric cancer

HRT:

Hormone replacement therapy

LCIS:

Lobular carcinoma in situ

LFS:

Li-Fraumeni syndrome

NCCN:

National Comprehensive Cancer Network

NSGC:

National Society of Genetic Counselors

OC:

Oral contraceptives

PGD:

Preimplantation genetic diagnosis

PJS:

Peutz-Jeghers syndrome

RRM:

Risk-reducing mastectomy

RRSO:

Risk-reducing salpingo-oophorectomy

SCTATs:

Sex cord tumors with annular tubules

SEER:

Surveillance, Epidemiology, and End Results

US:

United States

USPSTF:

United States Preventive Services Task Force

VUS:

Variants of uncertain significance

References

  1. Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D. Global cancer statistics. CA Cancer J Clin. 2011;61:69–90.

    Article  PubMed  Google Scholar 

  2. Siegel R, Naishadham D, Jemal A. Cancer Statistics, 2013. CA Cancer J Clin. 2013;63:11–30.

    Article  PubMed  Google Scholar 

  3. Jemal A, Dimard EP, Dorell C, Noone A, Markowitz LE, Kohler B, et al. Annual report to the nation on the status of cancer, 1975–2009, featuring the burden and trends in human papillomavirus (HPV)-associated cancers and HPV vaccination coverage levels. JNCI. 2013;105(3):175–201.

    Article  PubMed Central  PubMed  Google Scholar 

  4. DeSantis C, Siegel R, Bandi P, Jemal A. Breast cancer statistics, 2011. CA Cancer J Clin. 2011;61:409–18.

    Article  PubMed  Google Scholar 

  5. Howlader N, Noone AM, Krapcho M, Neyman N, Aminou R, Altekruse SF, et al. SEER cancer statistics review, 1975–2009 (Vintage 2009 Populations). Bethesda: National Cancer Institute; 2012. http://seer.cancer.gov/csr/1975_2009_pops09/, based on November 2011 SEER data submission, posted to the SEER web site.

    Google Scholar 

  6. Anderson WF, Pfeiffer RM, Dores GM, Sherman ME. Comparison of age distribution patterns for different histopathologic types of breast carcinoma. Cancer Epidemiol Biomarkers Prev. 2006;15(10):1899–905.

    Article  PubMed  Google Scholar 

  7. De La Rochefordiere A, Asselain B, Campana F, Scholl S, Fenton J, Vilcoq J, et al. Age as prognostic factor in premenopausal breast carcinoma. Lancet. 1993;341(8852):1039–43.

    Article  PubMed  Google Scholar 

  8. Winchester D, Osteen R, Menck H. The national cancer data base report on breast carcinoma characteristics and outcome in relation to age. Cancer. 1996;78:1838–43.

    Article  CAS  PubMed  Google Scholar 

  9. Struewing JP, Hartge P, Wacholder S, Baker SM, Berlin M, McAdams M, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336:1401–8.

    Article  CAS  PubMed  Google Scholar 

  10. Ferlay J, Shin HR, Bray F, Forman D, Mathers C, Parkin DM. GLOBOCAN 2008 v2.0, cancer incidence and mortality worldwide: IARC cancer base no. 10 [Internet]. Lyon: International Agency for Research on Cancer; 2010. Available from: http://globocan.iarc.fr.

    Google Scholar 

  11. Berg J. Clinical implications of risk factors for breast cancer. Cancer. 1984;53:589–91. 2013;(2):155–63.

    Article  CAS  PubMed  Google Scholar 

  12. Dupont W, Page D. Breast cancer risk associated with proliferative disease, age at first birth, and a family history of breast cancer. Am J Epidemiol. 1987;125:769–79.

    CAS  PubMed  Google Scholar 

  13. Dupont W, Page D, Parl D, Vneneak-Jones C, Plummer W, Rados M, et al. Long-term risk of breast cancer in women with fibroadenomas. NEJM. 1994;331:10–5.

    Article  CAS  PubMed  Google Scholar 

  14. Jensen RA, Page DL, Dupont WD, Rogers LW. Invasive breast cancer risk in women with sclerosing adenosis. Cancer. 1989;64(10):1977–83.

    Article  CAS  PubMed  Google Scholar 

  15. Marshall L, Hunter D, Connolly J, Schnitt S, Byrne C, London S, et al. Risk of breast cancer associated with atypical hyperplasia of lobular and ductal types. Cancer Epidemiol Biomarkers Prev. 1997;6:297–301.

    CAS  PubMed  Google Scholar 

  16. Osborne M, Hoda S. Current management of lobular carcinoma in situ of the breast. Oncology. 1994;8(2):45–9.

    CAS  PubMed  Google Scholar 

  17. Hutter R. Lobular carcinoma in situ. CA Cancer J Clin. 1982;32(4):231–2.

    Article  Google Scholar 

  18. Bodian C, Perzin K, Lattes R. Lobular neoplasia, long term risk of breast cancer and relation to other factors. Cancer. 1996;78:1024–34.

    Article  CAS  PubMed  Google Scholar 

  19. Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ, et al. Mammographic breast density as an intermediate phenotype for breast cancer. Lancet Oncol. 2005;6:798–808.

    Article  PubMed  Google Scholar 

  20. McCormack VA, dos Santos Silva I. Breast density and parenchymal patterns as markers of breast cancer risk: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2006;15(6):1159–69.

    Article  PubMed  Google Scholar 

  21. Boyd NF, Melnichouk O, Martin LJ, Hislop G, Chiarelli AM, Yaffe MJ, et al. Mammographic density, response to hormones, and breast cancer risk. J Clin Oncol. 2011;29:2985–92.

    Article  CAS  PubMed  Google Scholar 

  22. Kerlikowske K, Cook AJ, Buist DSM, Cummings SR, Vachon C, Vacek P, et al. Breast cancer risk by breast density, menopause, and postmenopausal hormone therapy use. J Clin Oncol. 2010;28:3830–7.

    Article  PubMed Central  PubMed  Google Scholar 

  23. Dearth RK, Delgado DA, Hiney JK, Pathiraja T, Oesterreich S, Medina D, et al. Parity-induced decrease in systemic growth hormone alters mammary gland signaling: a potential role in pregnancy protection from breast cancer. Cancer Prev Res. 2010;3(3):312–21.

    Article  CAS  Google Scholar 

  24. Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and breastfeeding: collaborative reanalysis of individual data from 47 epidemiological studies in 30 countries, including 50,302 women with breast cancer and 96,973 women without the disease. Lancet. 2002;360(9328):187–95.

    Article  Google Scholar 

  25. Russo J, Balogh GA, Russo IH. Full-term pregnancy induces a specific genomic signature in the human breast. Cancer Epidemiol Biomarkers Prev. 2008;17(1):51–66.

    Article  CAS  PubMed  Google Scholar 

  26. Titus-Ernstoff L, Longnecker MP, Newcomb PA, Dain B, Greenberg ER, Mittendorf R, et al. Menstrual factors in relation to breast cancer risk. Cancer Epidemiol Biomarkers Prev. 1998;7:783–9.

    CAS  PubMed  Google Scholar 

  27. Eisen A, Lubinski J, Klijn J, Moller P, Lynch HT, Offit K, et al. Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol. 2005;23:7491–6.

    Article  PubMed  Google Scholar 

  28. Chlebowski RT, Anderson GL, Gass M, Lane DS, Aragaki AK, Kuller LH, et al. Estrogen plus progestin and breast cancer incidence and mortality in postmenopausal women. JAMA. 2010;304(15):1684–92.

    Article  CAS  PubMed  Google Scholar 

  29. Russo IH, Russo J. Hormonal approach to breast cancer prevention. J Cell Biochem Suppl. 2000;34:1–6.

    Article  CAS  PubMed  Google Scholar 

  30. Russo IH, Russo J. Pregnancy-induced changes in breast cancer risk. J Mammary Gland Biol Neoplasia. 2011;16(3):221–33.

    Article  PubMed  Google Scholar 

  31. Linet MS, Slovis TL, Miller DL, Kleinerman R, Lee C, Rajaraman P, et al. Cancer risks associated with external radiation from diagnostic imaging procedures. CA Cancer J Clin. 2012;62:75–100.

    Article  Google Scholar 

  32. Adams MJ, Dozier A, Shore RE, Lipshultz SE, Schwartz RG, Constine LS, et al. Breast cancer risk 55+ years after irradiation for an enlarged thymus and its implications for early childhood medical irradiation today. Epidemiol Biomark Prev. 2010;19(1):48–58.

    Article  CAS  Google Scholar 

  33. Elkin EB, Klem ML, Gonzales AM, Ishill NM, Hodgson D, Ng AK, et al. Characteristics and outcomes of breast cancer in women with and without a history of radiation for Hodgkin’s lymphoma: a multi-institutional, matched cohort study. J Clin Oncol. 2011;29:2466–73.

    Article  PubMed Central  PubMed  Google Scholar 

  34. Travis LB, Hill D, Dpres GM, Gospodarowicz M, van Leeuwen FE, Holowaty E, et al. Cumulative absolute breast cancer risk for young women treated for Hodgkin lymphoma. J Natl Cancer Inst. 2005;97:1428–37.

    Article  PubMed  Google Scholar 

  35. Bernstein L, Patel AV, Ursin G, Sullivan-Halley J, Press MF, Deapen D, et al. Lifetime recreational exercise activity and breast cancer risk among black women and white women. J Natl Cancer Inst. 2005;97:1671–9.

    Article  PubMed  Google Scholar 

  36. Dallal CM, Sullivan-Halley J, Ross RK, Wang Y, Deapen D, Horn-Ross PL, et al. Long-term recreational physical activity and risk of invasive and in situ breast cancer. The California Teachers Study. Arch Intern Med. 2007;167:408–15.

    Article  PubMed  Google Scholar 

  37. Chlebowski RT, Pettinger M, Stefanick ML, Howard BV, Mossavar-Rahmani Y, McTiernan A. Insulin, physical activity, and caloric intake in postmenopausal women: breast cancer implications. J Clin Oncol. 2004;22:4507–13.

    Article  PubMed  Google Scholar 

  38. McTiernan A, Tworoger SS, Ulrich CM, Yasui Y, Irwin ML, Rajan KB, et al. Effect of exercise on serum estrogens in postmenopausal women: a 12-month randomized clinical trial. Cancer Res. 2004;64:2923–8.

    Article  CAS  PubMed  Google Scholar 

  39. Zhu K, Caulfield J, Hunter S, Roland CL, Payne-Wilds K, Texter L. Body mass index and breast cancer risk in African American women. Ann Epidemiol. 2005;15:123–8.

    Article  PubMed  Google Scholar 

  40. Ziegler RG, Hoover RN, Nomura AMY, West DW, Wu AH, Pike MC, et al. Relative weight, weight change, height, and breast cancer risk in Asian-American women. J Natl Cancer Inst. 1966;88:650–60.

    Article  Google Scholar 

  41. Hursting SD, DiGiovanni J, Dannenberg AJ, Azrad M, LeRoith D, Demark-Wahnefried W, et al. Obesity, energy balance, and cancer: new opportunities for prevention. Cancer Prev Res. 2012;5(11):1260–72.

    Article  CAS  Google Scholar 

  42. Terry MB, Zhang FF, Kabat G, Britton JA, Teitelbaum SL, Neugut AI, et al. Lifetime alcohol intake and breast cancer risk. Ann Epidemiol. 2006;16:230–40.

    Article  PubMed  Google Scholar 

  43. Zhang SM, Lee IM, Manson JE, Cook NR, Willett WC, Buring JE. Alcohol consumption and breast cancer risk in the Women’s Health Study. Am J Epidemiol. 2007;165:667–76.

    Article  PubMed  Google Scholar 

  44. Collaborative Group on Hormonal Factors in Breast Cancer. Alcohol, tobacco and breast cancer-collaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the disease. Br J Cancer. 2002;87:1234–45.

    Article  PubMed Central  Google Scholar 

  45. Deandrea S, Talamini R, Foschi R, Montella M, Dal Maso L, Falcini F, et al. Alcohol and breast cancer risk defined by estrogen and progesterone receptor status in a case-control study. Cancer Epidemiol Biomarkers Prev. 2008;17(8):2025–8.

    Article  CAS  PubMed  Google Scholar 

  46. Horn-Ross PL, Canchola AJ, Bernstein L, Clarke CA, Lacey JV, Neuhausen SL, et al. Alcohol consumption and breast cancer risk among postmenopausal women following the cessation of hormone therapy use: the California Teachers Study. Cancer Epidemiol Biomarkers Prev. 2012;21(11):2006–13.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  47. Li CI, Chlebowski RT, Freiberg M, Johnson KC, Kuller L, Lane D, et al. Alcohol consumption and risk of postmenopausal breast cancer by subtype: the Women’s Health Initiative Observational Study. JNCI. 2010;102(18):1422–31.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  48. Brooks PJ, Zakhari S. Moderate alcohol consumption and breast cancer in women: from epidemiology to mechanisms and interventions. Alcohol Clin Exp Res. 2013;1:23–30.

    Article  Google Scholar 

  49. Venkitaraman AR. Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell. 2002;108(2):171–82.

    Article  CAS  PubMed  Google Scholar 

  50. King MC, Marks JH, Mandell JB, New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science. 2003;302(5645):643–66.

    Article  CAS  PubMed  Google Scholar 

  51. Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, 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 Central  PubMed  Google Scholar 

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

    Article  PubMed Central  PubMed  Google Scholar 

  53. Graeser MK, Engel C, Rhiem K, Gadzicki D, Bick U, Kast K, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers. J Clin Oncol. 2009;27:5887–92.

    Article  PubMed  Google Scholar 

  54. Lakhani SR, Van de Vijver MJ, Jacquemier J, Anderson TU, Osin PP, McGuffog L, 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 

  55. Lee E, McKean-Cowdin R, Ma H, Spicer DV, Van Den Berg D, Bernstein L, et al. Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. J Clin Oncol. 2011;29(33):4373–80.

    Article  PubMed Central  PubMed  Google Scholar 

  56. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Ecceles D, Nevanlina H, et al. Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Cancer Epidemiol Biomarkers Prev. 2012;21(1):134–47.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  57. Gonzales-Angulo AM, Timms KM, Liu S, Chen H, Litton JK, Potter J, et al. Incidence and outcome of BRCA mutations in unselected patients with triple receptor-negative breast cancer. Clin Cancer Res. 2011;17(5):1082–9.

    Article  CAS  Google Scholar 

  58. Chrompret A, Abel A, Stoppa-Lyonnet D, Brugieres L, Pages S, Feunteun J, Bonaiti-Pellie C. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001;38:43–7.

    Article  Google Scholar 

  59. Hisada MM, Garger JE, Fung CY, Fraumeni Jr JF, Li FP. Multiple primary cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998;90(8):606–11.

    Article  CAS  PubMed  Google Scholar 

  60. Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, et al. Beyond Li Fraumeni syndrome: clinical characteristics of families with p53 mutations. J Clin Oncol. 2009;27(8):1250–6.

    Article  CAS  PubMed  Google Scholar 

  61. Pilarski R. Cowden syndrome: a critical review of the clinical literature. J Genet Couns. 2009;18(1):13–27.

    Article  PubMed  Google Scholar 

  62. Jeghers H, McKusick VA, Katz KH. Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance. N Engl J Med. 1949;241(25):993–1005.

    Article  CAS  PubMed  Google Scholar 

  63. National Cancer Institute. PDQ® genetics of breast and ovarian cancer. Bethesda: National Cancer Institute. 24 May 2013. Available at: http://cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional

  64. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJ, 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 

  65. Lim W, Hearle N, Shah B, Murday V, Hodgson SV, Lucassen A, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003;89:308–13.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  66. Young RH. Sex cord-stromal tumors of the ovary and testis: their similarities and differences with consideration of selected problems. Mod Pathol. 2005;18 Suppl 2:S81–98.

    Article  PubMed  Google Scholar 

  67. Aretz S, Stienen D, Uhlhaas S, et al. High proportion of large genomic STKI11 deletions in Peutz-Jehers syndrome. Hum Mutat. 2005;26(6):513–9.

    Article  CAS  PubMed  Google Scholar 

  68. Pharoah PD, Guilford P, Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families. Gastroenterology. 2001;121:1348–53.

    Article  CAS  PubMed  Google Scholar 

  69. Fitzgerald RC, Hardwick R, Huntsman D, Carneiro F, Guilford P, International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47:436–44.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  70. McColl KE. Cancer of the gastric cardia. Best Pract Res Clin Gastroenterol. 2006;20:687–96.

    Article  CAS  PubMed  Google Scholar 

  71. National Society of Genetic Counselors’ Definition Task Force, Resta R, Biesecker BB, Bennett RL, Blum S, Hahn SE, et al. A new definition of genetic counseling: National Society of Genetic Counselors’ Task Force report. J Genet Couns. 2006;15(2):77–83.

    Article  PubMed  Google Scholar 

  72. Riley BD, Culver JO, Skrzynia C, Senter LA, Peters JA, Costalas JW, et al. Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns. 2012;21(2):151–61.

    Article  PubMed  Google Scholar 

  73. Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns. 2013;2:155–63.

    Article  Google Scholar 

  74. Bennett RL, French KS, Resta RG, Doyle DL. 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 

  75. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology, genetic/familial high risk assessment: breast and ovarian (version 1.2013). 2013. Available from: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf

  76. Weitzel JN, Lagos VI, Cullinane CA, Gambol PJ, Culver JO, Blazer KR, 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 

  77. Mai PL, Garceau AO, Graubard BI, Dunn M, McNeel TS, Gonsalves L, et al. Confirmation of family cancer history reported in a population-based survey. J Natl Cancer Inst. 2011;103(10):788–97.

    Article  PubMed Central  PubMed  Google Scholar 

  78. Sijmons RH, Boonstra AE, Reefhuis J, Hordijk-Hos JM, de Walle HE, Oosterwijk JC, et al. Accuracy of family history of cancer: clinical genetic implications. Eur J Hum Genet. 2000;8(3):181–6.

    Article  CAS  PubMed  Google Scholar 

  79. Schneider KA. Counseling about cancer: strategies for genetic counseling. 3rd ed. Hoboken: Wiley-Blackwell; 2012.

    Google Scholar 

  80. Lipkus IM. Numeric, verbal, and visual formats of conveying health risks: suggested best practices and future recommendations. Med Dec Making. 2007;27(5):696–713.

    Article  Google Scholar 

  81. Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989;81(24):1879–86.

    Article  CAS  PubMed  Google Scholar 

  82. Costantino JP, Gail MH, Pee D, Anderson S, Redmond S, Benichou J, et al. Validation studies for models projecting the risk of invasive and total breast cancer incidence. J Natl Cancer Inst. 1999;91(18):1541–8.

    Article  CAS  PubMed  Google Scholar 

  83. Hoskins KF, Stopfer JE, Calzone KA, Merajver SD, Rebbeck TR, Garber JE, et al. Assessment and counseling for women with a family history of breast cancer. A guide for clinicians. JAMA. 1995;273(7):577–85.

    Article  CAS  PubMed  Google Scholar 

  84. National Cancer Institute. Breast cancer risk assessment tool. http://www.cancer.gov/bcrisktool/

  85. Antoniou AC, Cunningham AP, Peto J, Evans DG, Lalloo F, Narod SA, et al. The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions. Br J Cancer. 2008;98(9):1457–66.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  86. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997;336(20):1409–15.

    Article  CAS  PubMed  Google Scholar 

  87. Frank TS. Hereditary risk of breast and ovarian carcinoma: the role of the oncologist. Oncologist. 1998;3(6):403–12.

    PubMed  Google Scholar 

  88. Lindor NM, Johnson KJ, Harvey H, Shane Pankratz V, Domchek SM, Hunt K, et al. Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study. Fam Cancer. 2010;9(4):495–502.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  89. 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 Central  PubMed  Google Scholar 

  90. Tyrer J, Duffy SW, Cuzick J. A breast cancer prediction model incorporating familial and personal risk factors. Stat Med. 2004;23(7):1111–30.

    Article  PubMed  Google Scholar 

  91. Amir E, Freedman OC, Seruga B, Evans DG. Assessing women at high risk of breast cancer: a review of risk assessment models. J Natl Cancer Inst. 2010;102(10):680–91.

    Article  PubMed  Google Scholar 

  92. Culver J, Lowstuter K, Bowling L. Assessing breast cancer risk and BRCA1/2 carrier probability [review]. Breast Dis. 2006–2007;27:5–20.

    Google Scholar 

  93. American Society of Clinical Oncology. Policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2010;28(5):893–901.

    Article  Google Scholar 

  94. National Comprehensive Cancer Network. NCCN clinical practice guidelines in oncology, breast cancer screening and diagnosis (version 1.2013). 2013. Available from: http://www.nccn.org/professionals/physician_gls/pdf/breast-screening.pdf

  95. United States Preventive Services Task Force (USPSTF). Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement. Ann Intern Med. 2005;143(5):355–61.

    Article  Google Scholar 

  96. Menon U, Harper J, Sharma A, Fraser L, Burnell M, ElMasry K, et al. Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Hum Reprod. 2007;22(6):1573–7.

    Article  CAS  PubMed  Google Scholar 

  97. Quinn G, Vadaparampil S, Wilson C, King L, Choi J, Miree C, et al. Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertil Steril. 2009;91(6):2361–8.

    Article  PubMed  Google Scholar 

  98. Domchek SM, Gaudet MM, Stopfer JE, Fleischaut MH, Powers J, Kauff N, et al. Breast cancer risks in individuals testing negative for a known family mutation in BRCA1 or BRCA2. Breast Cancer Res Treat. 2010;119(2):409–14.

    Article  CAS  PubMed  Google Scholar 

  99. Culver J, Brinkerhoff C, Clague J, Yang K, Singh K, Sand S, et al. Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress. J Clin Genet. 2013. doi:10.1111/cge.12097.

    Google Scholar 

  100. Murray ML, Cerrato F, Bennett RL, Jarvik GP. Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med. 2011;13(12):998–1005.

    Article  CAS  PubMed  Google Scholar 

  101. Brierley KL, Campfield D, Ducaine W, Dohany L, Donenberg T, Shannon K, et al. Errors in delivery of cancer genetics services: implications for practice. Conn Med. 2010;7:413–23.

    Google Scholar 

  102. Centers for Disease Control and Prevention. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR. 2009;58(RR-6):9.

    Google Scholar 

  103. Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C. Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol. 2002;20(2):514–20.

    Article  PubMed  Google Scholar 

  104. Hamann HA, Somers TJ, Smith AW, Inslicht SS, Baum A. Posttraumatic stress associated with cancer history and BRCA1/2 genetic testing. Psychosom Med. 2005;67(5):766–72.

    Article  PubMed  Google Scholar 

  105. van Roosmale MS, Stalmeier PF, Verhoef LC, Hoekstra-Weebers JE, Oosterwijk JC, Hoogerbrugge N, et al. Impact of BRCA1/2 testing and disclosure of a positive test result on women affected and unaffected with breast or ovarian cancer. Am J Med Genet. 2004;124A(4):346–55.

    Article  Google Scholar 

  106. Tambor E, Bernhardt B, Chase G, Faden R, Geller G, Hofman K, et al. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am J Hum Genet. 1994;55:626–37.

    CAS  PubMed Central  PubMed  Google Scholar 

  107. Evers-Kiebooms, van den Berghe H. Impact of genetic counseling: a review of published follow-up studies. Clin Genet. 1979;15:465–74.

    Article  CAS  PubMed  Google Scholar 

  108. Lord SJ, Wei W, Craft P, Cawson JN, Morris I, Walleser S, et al. A systematic review of the effectiveness of magnetic resonance imaging (MRI) as an addition to mammography and ultrasound in screening young women at high risk of breast cancer. Eur J Cancer. 2007;43(13):1905–17.

    Article  CAS  PubMed  Google Scholar 

  109. Saslow D, Boetes C, Burke W, Harms S, Leach MO, Lehman CD, American Cancer Society Breast Cancer Advisory Group, et al. American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. Cancer J Clin. 2007;57(2):75–89.

    Article  Google Scholar 

  110. Fisher B, Costantino JP, Wickerham DL, Redmond CK, Kavanah M, Cronin WM, 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 

  111. Vogel VG, Costantino JP, Wickerham DL, Cronin WM, Cecchini RS, Atkins JN, 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):2727–51.

    Article  CAS  PubMed  Google Scholar 

  112. Iodice S, Barile M, Rotmensz N, Feroce I, Bonanni B, Radice P, et al. Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer. 2010;46(12):2275–84.

    Article  CAS  PubMed  Google Scholar 

  113. Rebbeck TR, Friebel T, Lynch HT, Neuhausen SL, van’t Veer L, Garber JE, et al. Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol. 2004;22:1055–62.

    Article  PubMed  Google Scholar 

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

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  115. Evans DGR, Clayton R, Donnai P, Shenton A, Lalloo F. Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk. Eur J Cancer. 2009;17:1381–5.

    Google Scholar 

  116. Reitsma W, de Bock GH, Oosterwijk JC, Bart J, Hollema H, Mourits MJE. Support of the fallopian tube hypothesis’ in a prospective series of risk-reducing salpingo-oophorectomy specimens. Eur J Cancer. 2013;49:132–41.

    Article  PubMed  Google Scholar 

  117. Medeiros F, Muto MG, Lee Y, Elvin JA, Callahan MJ, Feltmate C, et al. The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol. 2006;30(2):230–6.

    Article  PubMed  Google Scholar 

  118. Greene MH, Mai PL, Schwartz PE. Does bilateral salpingectomy with ovarian retention warrant consideration as a temporary bridge to risk-reducing bilateral oophorectomy in BRCA1/2 mutation carriers? Am J Obstet Gynecol. 2011;204(1):19, e1–6.

    Article  PubMed Central  PubMed  Google Scholar 

  119. Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967–75.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  120. Ursin G, Henderson BE, Halle RW, Pike MC, Zhou N, Diep A, et al. Does oral contraceptive use increase the risk of breast cancer in women with BRCA1/BRCA2 mutations more than in other women? Cancer Res. 1997;57(17):1678–81.

    Google Scholar 

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Authors and Affiliations

  1. Department of Clinical Genetics, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA

    Mary B. Daly MD, PhD & Andrea Forman MS, CGC

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  1. Mary B. Daly MD, PhD
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  2. Andrea Forman MS, CGC
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Correspondence to Mary B. Daly MD, PhD .

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  1. Advocate Center for Breast Health, Advocate Cancer Institute, Oak Lawn, Illinois, USA

    Adam I. Riker

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Daly, M.B., Forman, A. (2015). Genetically Based Breast Cancer: Risk Assessment, Counseling, and Testing. In: Riker, A. (eds) Breast Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-1145-5_9

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