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History, Advancements, and Future Strategies

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Hereditary Breast and Ovarian Cancer

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Abstract

Since the recognition of the genetic predisposition to breast and ovarian cancers, researchers have verified their genetic involvement and causative genes. Furthermore, treatment strategies and prevention care options to reduce the overall risk for hereditary cancers have been established based on rapid advancements in gene sequencing. Owing to the great efforts of our predecessors, the quality of life of patients diagnosed with hereditary tumors has been improved. This chapter introduces the history, advancements, and future strategies on hereditary breast and ovarian cancer (HBOC), which has a high prevalence of breast and ovarian cancer. In any field of medicine, first, clinical questions that foresee the truth arise; researchers then seek the truth, and clinicians deploy their knowledge in the medical field.

Management of hereditary breast and ovarian cancer (HBOC) is a typical model for other hereditary tumor syndromes.

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References

  1. Lynch HT, Shaw TG, Lynch JF. Inherited predisposition to cancer: a historical overview. Am J Med Genet C. 2004;129C:5–22. https://doi.org/10.1002/ajmg.c.30026.

    Article  Google Scholar 

  2. Broca PP. Traité des tumeurs, vol. 1. Paris: Asselin; 1866. p. 2

    Google Scholar 

  3. Jacobsen O. Heredity in breast cancer: a genetic and clinical study of two hundred probands. London: HK Lewis; 1946.

    Google Scholar 

  4. Anderson DE. Some characteristics of familial breast cancer. Cancer. 1971;28:1500–4. https://doi.org/10.1002/1097-0142(197112)28:6<1500::aid-cncr2820280623>3.0.co;2-d.

    Article  CAS  PubMed  Google Scholar 

  5. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250:1684–9. https://doi.org/10.1126/science.2270482.

    Article  CAS  PubMed  Google Scholar 

  6. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66–71. https://doi.org/10.1126/science.7545954.

    Article  CAS  PubMed  Google Scholar 

  7. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378:789–92. https://doi.org/10.1038/378789a0.

    Article  CAS  PubMed  Google Scholar 

  8. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994;265:2088–90. https://doi.org/10.1126/science.8091231.

    Article  CAS  PubMed  Google Scholar 

  9. Lynch HT, Lynch J, Conway T, Watson P, Feunteum J, Lenoir G, et al. Hereditary breast cancer and family cancer syndromes. World J Surg. 1994;18:21–31. https://doi.org/10.1007/BF00348188.

    Article  CAS  PubMed  Google Scholar 

  10. Breast Cancer Linkage Consortium T. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91:1310–6. https://doi.org/10.1093/jnci/91.15.1310.

    Article  Google Scholar 

  11. Mavaddat N, Barrowdale D, Andrulis IL, Domchek SM, Eccles D, Nevanlinna 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 Biomark Prev. 2012;21:134–47. https://doi.org/10.1158/1055-9965.EPI-11-0775.

    Article  CAS  Google Scholar 

  12. Rebbeck TR, Mitra N, Wan F, Sinilnikova OM, Healey S, McGuffog L, et al. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. JAMA. 2015;313:1347–61. https://doi.org/10.1001/jama.2014.5985.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Silvestri V, Leslie G, Barnes DR, Agnarsson BA, Aittomäki K, Alducci E, et al. Characterization of the cancer spectrum in men with germline BRCA1 and BRCA2 pathogenic variants: results from the consortium of investigators of modifiers of BRCA1/2 (CIMBA). JAMA Oncol. 2020;6:1218–30. https://doi.org/10.1001/jamaoncol.2020.2134.

    Article  PubMed  Google Scholar 

  14. Kuchenbaecker KB, McGuffog L, Barrowdale D, Lee A, Soucy P, Dennis J, et al. Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst. 2017;109:djw302. https://doi.org/10.1093/jnci/djw302.

    Article  CAS  PubMed Central  Google Scholar 

  15. Venkitaraman AR. How do mutations affecting the breast cancer genes BRCA1 and BRCA2 cause cancer susceptibility? DNA Repair (Amst). 2019;81:102668. https://doi.org/10.1016/j.dnarep.2019.102668.

    Article  CAS  Google Scholar 

  16. Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer. 2020;29:1–4. https://doi.org/10.1007/s12282-020-01148-2.

    Article  Google Scholar 

  17. Rebbeck TR, Levin AM, Eisen A, Snyder C, Watson P, Cannon-Albright L, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999;91:1475–9. https://doi.org/10.1093/jnci/91.17.1475.

    Article  CAS  PubMed  Google Scholar 

  18. Hartmann LC, Schaid DJ, Woods JE, Crotty TP, Myers JL, Arnold PG, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340:77–84. https://doi.org/10.1056/NEJM199901143400201.

    Article  CAS  PubMed  Google Scholar 

  19. Heemskerk-Gerritsen BA, Rookus MA, Aalfs CM, Ausems MG, Collée JM, Jansen L, et al. Improved overall survival after contralateral risk-reducing mastectomy in BRCA1/2 mutation carriers with a history of unilateral breast cancer: a prospective analysis. Int J Cancer. 2015;136:668–77. https://doi.org/10.1002/ijc.29032.

    Article  CAS  PubMed  Google Scholar 

  20. Finch AP, Lubinski J, Møller P, Singer CF, Karlan B, Senter L, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32:1547–53. https://doi.org/10.1200/JCO.2013.53.2820.

    Article  PubMed  PubMed Central  Google Scholar 

  21. Evans DG, Kesavan N, Lim Y, Gadde S, Hurley E, Massat NJ, et al. MRI breast screening in high-risk women: cancer detection and survival analysis. Breast Cancer Res Treat. 2014;145:663–72. https://doi.org/10.1007/s10549-014-2931-9.

    Article  PubMed  Google Scholar 

  22. Levy DE, Garber JE, Shields AE. Guidelines for genetic risk assessment of hereditary breast and ovarian cancer: early disagreements and low utilization. J Gen Intern Med. 2009;24:822–8. https://doi.org/10.1007/s11606-009-1009-6.

    Article  PubMed  PubMed Central  Google Scholar 

  23. Venkitaraman AR. Cancer suppression by the chromosome custodians, BRCA1 and BRCA2. Science. 2014;343:1470–5. https://doi.org/10.1126/science.1252230.

    Article  CAS  PubMed  Google Scholar 

  24. Sasanuma H, Tsuda M, Morimoto S, Saha LK, Rahman MM, Kiyooka Y, et al. BRCA1 ensures genome integrity by eliminating estrogen-induced pathological topoisomerase II-DNA complexes. Proc Natl Acad Sci U S A. 2018;115:E10642–51. https://doi.org/10.1073/pnas.1803177115.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Turner N, Tutt A, Ashworth A. Hallmarks of ‘BRCAness’ in sporadic cancers. Nat Rev Cancer. 2004;4:814–9. https://doi.org/10.1038/nrc1457.

    Article  CAS  PubMed  Google Scholar 

  26. Kurian AW, Ward KC, Hamilton AS, Deapen DM, Abrahamse P, Bondarenko I, et al. Uptake, results, and outcomes of germline multiple-gene sequencing after diagnosis of breast cancer. JAMA Oncol. 2018;4:1066–72. https://doi.org/10.1001/jamaoncol.2018.0644.

    Article  PubMed  PubMed Central  Google Scholar 

  27. Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, et al. Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. Nat Commun. 2018;9:4083. https://doi.org/10.1038/s41467-018-06581-8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  28. Buys SS, Sandbach JF, Gammon A, Patel G, Kidd J, Brown KL, et al. A study of over 35,000 women with breast cancer tested with a 25-gene panel of hereditary cancer genes. Cancer. 2017;123:1721–30. https://doi.org/10.1002/cncr.30498.

    Article  CAS  PubMed  Google Scholar 

  29. Sun J, Meng H, Yao L, Lv M, Bai J, Zhang J, et al. Germline mutations in cancer susceptibility genes in a large series of unselected breast cancer patients. Clin Cancer Res. 2017;23:6113–9. https://doi.org/10.1158/1078-0432.CCR-16-3227.

    Article  CAS  PubMed  Google Scholar 

  30. Pennington KP, Walsh T, Harrell MI, Lee MK, Pennil CC, Rendi MH, et al. Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. Clin Cancer Res. 2014;20:764–75. https://doi.org/10.1158/1078-0432.CCR-13-2287.

    Article  CAS  PubMed  Google Scholar 

  31. Li W, Shao D, Li L, Wu M, Ma S, Tan X, et al. Germline and somatic mutations of multi-gene panel in Chinese patients with epithelial ovarian cancer: a prospective cohort study. J Ovarian Res. 2019;12:80. https://doi.org/10.1186/s13048-019-0560-y.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  32. Nielsen FC, van Overeem HT, Sørensen CS. Hereditary breast and ovarian cancer: new genes in confined pathways. Nat Rev Cancer. 2016;16:599–612. https://doi.org/10.1038/nrc.2016.72.

    Article  CAS  PubMed  Google Scholar 

  33. Farmer H, McCabe N, Lord CJ, Tutt AN, Johnson DA, Richardson TB, et al. Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy. Nature. 2005;434:917–21. https://doi.org/10.1038/nature03445.

    Article  CAS  PubMed  Google Scholar 

  34. Bryant HE, Schultz N, Thomas HD, Parker KM, Flower D, Lopez E, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature. 2005;434:913–7. https://doi.org/10.1038/nature03443.

    Article  CAS  PubMed  Google Scholar 

  35. Fong PC, Boss DS, Yap TA, Tutt A, Wu P, Mergui-Roelvink M, et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med. 2009;361:123–34. https://doi.org/10.1056/NEJMoa0900212.

    Article  CAS  PubMed  Google Scholar 

  36. Franzese E, Centonze S, Diana A, Carlino F, Guerrera LP, Di Napoli M, et al. PARP inhibitors in ovarian cancer. Cancer Treat Rev. 2019;73:1–9. https://doi.org/10.1016/j.ctrv.2018.12.002.

    Article  CAS  PubMed  Google Scholar 

  37. Robson M, Im SA, Senkus E, Xu B, Domchek SM, Masuda N, et al. Olaparib for metastatic breast cancer in patients with a germline BRCA mutation. N Engl J Med. 2017;377:523–33. https://doi.org/10.1056/NEJMoa1706450.

    Article  CAS  PubMed  Google Scholar 

  38. Timms KM, Abkevich V, Hughes E, et al. Association of BRCA1/2defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes. Br Cancer Res. 2014;16:475. https://doi.org/10.1186/s13058-014-0475-x.

    Article  CAS  Google Scholar 

  39. DeLeonardis K, Hogan L, Cannistra SA, Rangachari D, Tung N. When should tumor genomic profiling prompt consideration of germline testing? J Oncol Pract. 2019;15:465–73. https://doi.org/10.1200/JOP.19.00201.

    Article  PubMed  Google Scholar 

  40. NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines) genetic/familial high-risk assessment: breast and ovarian.

    Google Scholar 

  41. van Marcke C, Collard A, Vikkula M, Duhoux FP. Prevalence of pathogenic variants and variants of unknown significance in patients at high risk of breast cancer: a systematic review and meta-analysis of gene-panel data. Crit Rev Oncol Hematol. 2018;132:138–44. https://doi.org/10.1016/j.critrevonc.2018.09.009.

    Article  PubMed  Google Scholar 

  42. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. https://doi.org/10.1038/gim.2015.30.

    Article  PubMed  PubMed Central  Google Scholar 

  43. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, et al. ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat. 2012;33:2–7. https://doi.org/10.1002/humu.21628.

    Article  CAS  PubMed  Google Scholar 

  44. Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, et al. BRCA share: a collection of clinical BRCA gene variants. Hum Mutat. 2016;37:1318–28. https://doi.org/10.1002/humu.23113.

    Article  CAS  PubMed  Google Scholar 

  45. Evans DGR, van Veen EM, Byers HJ, Wallace AJ, Ellingford JM, Beaman G, et al. A dominantly inherited 5′ UTR variant causing methylation-associated silencing of BRCA1 as a cause of breast and ovarian cancer. Am J Hum Genet. 2018;103:213–20. https://doi.org/10.1016/j.ajhg.2018.07.002.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  46. O’Daniel JM, Lee K. Whole-genome and whole-exome sequencing in hereditary cancer: impact on genetic testing and counseling. Cancer J. 2012;18:287–92. https://doi.org/10.1097/PPO.0b013e318262467e.

    Article  CAS  PubMed  Google Scholar 

  47. Fahed AC, Wang M, Homburger JR, Patel AP, Bick AG, Neben CL, et al. Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun. 2020;11:3635. https://doi.org/10.1038/s41467-020-17374-3.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  48. Fisher B, Costantino JP, Wickerham DL, Cecchini RS, Cronin WM, Robidoux A, et al. Tamoxifen for the prevention of breast cancer: current status of the National Surgical Adjuvant Breast and bowel project P-1 study. J Natl Cancer Inst. 2005;97:1652–62. https://doi.org/10.1093/jnci/dji372.

    Article  CAS  PubMed  Google Scholar 

  49. Cuzick J, Forbes JF, Sestak I, Cawthorn S, Hamed H, Holli K, et al. Long-term results of tamoxifen prophylaxis for breast cancer--96-month follow-up of the randomized IBIS-I trial. J Natl Cancer Inst. 2007;99:272–82. https://doi.org/10.1093/jnci/djk049.

    Article  CAS  PubMed  Google Scholar 

  50. King MC, Wieand S, Hale K, Lee M, Walsh T, Owens K, 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. https://doi.org/10.1001/jama.286.18.2251.

    Article  CAS  PubMed  Google Scholar 

  51. Xu L, Zhao Y, Chen Z, Wang Y, Chen L, Wang S. Tamoxifen and risk of contralateral breast cancer among women with inherited mutations in BRCA1 and BRCA2: a meta-analysis. Breast Cancer. 2015;22:327–34. https://doi.org/10.1007/s12282-015-0619-6.

    Article  CAS  PubMed  Google Scholar 

  52. Joshi PA, Jackson HW, Beristain AG, Di Grappa MA, Mote PA, Clarke CL, et al. Progesterone induces adult mammary stem cell expansion. Nature. 2010;465:803–7. https://doi.org/10.1038/nature09091.

    Article  CAS  PubMed  Google Scholar 

  53. Sigl V, Owusu-Boaitey K, Joshi PA, Kavirayani A, Wirnsberger G, Novatchkova M, et al. RANKL/RANK control BRCA1 mutation-driven. Cell Res. 2016;26:761–74. https://doi.org/10.1038/cr.2016.69.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Odén L, Akbari M, Zaman T, Singer CF, Sun P, Narod SA, et al. Plasma osteoprotegerin and breast cancer risk in BRCA1 and BRCA2 mutation carriers. Oncotarget. 2016;7:86687–94. https://doi.org/10.18632/oncotarget.13417.

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Showa University, Advanced Cancer Translational Research Institute, Shinagawa-ku, Tokyo, Japan

    Reiko Yoshida

  2. Division of Cancer Genomics, Cancer Institute, Japanese Foundation for Cancer Research, Koto-ku, Tokyo, Japan

    Reiko Yoshida

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  1. Reiko Yoshida
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Correspondence to Reiko Yoshida .

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Editors and Affiliations

  1. Department of Breast Surgical Oncology, Showa University, School of Medicine, Tokyo, Japan

    Seigo Nakamura

  2. Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan

    Daisuke Aoki

  3. Department of Molecular Genetics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan

    Yoshio Miki

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Yoshida, R. (2021). History, Advancements, and Future Strategies. In: Nakamura, S., Aoki, D., Miki, Y. (eds) Hereditary Breast and Ovarian Cancer . Springer, Singapore. https://doi.org/10.1007/978-981-16-4521-1_1

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