Pandora's DNA: Tracing the Breast Cancer Genes Through History, Science, and One Family Tree

by Lizzie Stark

  Thank you to Janell Sims, Julia Henderson, and Sarah Miles, and to the many others who listened to my worries or had a beer with me when it all became too much.

  Selected Bibliography

  Major sources of research are listed here for the interested reader. Full citations can be found in the notes, and a full bibliography of all works cited can be found at www.lizziestark.com.

  American Journal of Cancer. “Joseph Cold Bloodgood: November 1, 1867—October 22, 1935.” 26 (1936): 397—98.

  Antoniou, A., P. D. P. Pharoah, S. Narod, H. A. Risch, J. E. Eyfjord, J. L. Hopper, N. Loman, 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.” American Journal of Human Genetics 72, no. 5 (May 2003): 1117—30.

  Armstrong, K., J. S. Schwartz, T. Randall, S. C. Rubin, and B. Weber. “Hormone Replacement Therapy and Life Expectancy after Prophylactic Oophorectomy in Women with BRCA1/2; Mutations: A Decision Analysis.” Journal of Clinical Oncology 22, no. 6 (March 15, 2004).

  Aronowitz, Robert. Unnatural History: Breast Cancer and American Society. New York: Cambridge University Press, 2007.

  Bartlett, Willard. “An Anatomic Substitute for the Female Breast.” Annals of Surgery (Philadelphia) 66 (1917): 208—11.

  Beattie, M. S., B. Crawford, F. Lin, E. Vittinghoff, and J. Ziegler. “Uptake, Time Course, and Predictors of Risk-Reducing Surgeries in BRCA Carriers.” Genetic Testing and Molecular Biomarkers 13, no. 1 (February 2009): 51—56. doi: 10.1089/gtmb/2008.0067.

  Berg, Wendy A., Z. Zhang, D. Lehrer, R. A. Jong, E. D. Pisano, R. G. Barr, and M. Böhm-Vélez, et al. “Detection of Breast Cancer with Addition of Annual Screening Ultrasound or a Single Screening MRI to Mammography in Women with Elevated Breast Cancer Risk,” Journal of the American Medical Association 307, no. 13 (April 4, 2012).

  Bleyer, Archie, and Gilbert Welch. “Effect of Three Decades of Screening Mammography on Breast Cancer Incidence.” New England Journal of Medicine, (November 22, 2012), 367: 1998–2005.

  Brewster, Abenaa M., and Patricia Parker. “Current Knowledge on Contralateral Prophylactic Mastectomy Among Women with Sporadic Breast Cancer.” Oncologist, 16(7), (July 2011): 935–941.

  Brinker, Nancy G. with Joni Rodgers. Promise Me: How a Sister’s Love Launched the Global Movement to End Breast Cancer. New York: Crown Archetype, 2010.

  Byrne, John A. Informed Consent: A Story of Personal Tragedy and Corporate Betrayal… Inside the Silicone Breast Implant Crisis. McGraw Hill, 1997.

  Calderon-Margalit, R., and O. Paltiel. “Prevention of Breast Cancer in Women Who Carry BRCA1 or BRCA2 Mutations: A Critical Review of the Literature.” International Journal of Cancer 112, no. 3 (November 10, 2004): 357–64.

  Cann, Rebecca L., Mark Stoneking, and Allan C. Wilson. “Mitochondrial DNA and Human Evolution.” Nature, January 1, 1987: 31–36. doi: 10.1038/325031a0.

  Castanias, Gregory A. “Brief for Respondents.” AMP et al., v. Myriad Genetics et al., No. 12–398, March 7, 2013, 32.

  Chen, Sining, and Giovanni Parmigiani. “Meta-Analysis of BRCA1 and BRCA2 Penetrance.” Journal of Clinical Oncology 25 (2007): 1329–33.

  Committee on Health, Education, and Pensions. Report on Genetic Information Nondiscrimination Act of 2007. 110th Congress S. Rep. 110–48, 110th Cong., 1st Sess., (April 10. 2007).

  Daly, Mary B., Robert Pilarski, Jennifer E. Axilbund, Saundra S. Buys, Beth Crawford, Susan Friedman, Judy E. Garber, et al. “Genetic/Familial High-Risk Assessment: Breast and Ovarian.” NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ®, version 1.2014). National Comprehensive Cancer Network. Accessed March 7, 2014. http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf.

  Davies, Kevin, and Michael White. Breakthrough: The Race to Find the Breast Cancer Gene. New York: John Wiley & Sons, Inc., 1995.

  de Cholnoky, Tibor. “Augmentation Mammaplasty: Survey of Complications in 10,941 Patients by 265 Surgeons.” Plastic and Reconstructive Surgery 45, no. 6 (1970): 573–77.

  Domchek, S. M., et al. “Association of Risk-Reducing Surgery in BRCA1 or BRCA2 Mutation Carriers with Cancer Risk and Mortality.” Journal of the American Medical Association 304, no. 9 (2010): 967–75.

  Evans, D. G. R., A. D. Baildam, E. Anderson, A. Brain, A. Shenton, H. F. Vasen, and D. Eccles, et al. “Risk Reducing Mastectomy: Outcomes in 10 European Centres.” Journal of Medical Genetics 46, no. 4 (April 2009): 254–58.

  Finch, A., M. Beiner, J. Lubinski, H. T. Lynch, P. Moller, B. Rosen, J. Murphy, et al. “Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women with a BRCA1 or BRCA2 Mutation.” Journal of the American Medical Association 296, no. 2 (2006): 185–92.

  Fisher, B., J. P. Constantino, D. L. Wickerham, C. K. Redmond, M. Kavanah, W. M. Cronin, V. Vogel, et al. “Tamoxifen for Prevention of Breast Cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study.” Journal of the National Cancer Institute 90, no. 18 (1998): 1371–88.

  Fulda, K. G., and K. Lykens. “Ethical Issues in Predictive Genetic Testing: A Public Health Perspective.” Journal of Medical Ethics 32, no. 3, March 2006: 143–47.

  Garcia, C., J. Wendt, L. Lyon, J. Jones, R. D. Littell, M. A. Armstrong, T. Raine-Bennett, et al. “Risk Management Options Elected by Women after Testing Positive for a BRCA Mutation.” Gynecologic Oncology 132, no. 2 (February 2014): 428–33. Accessed March 6, 2014. doi: 10.1016/j.ygyno.2013.12.014.

  Gawande, Atul. “Two Hundred Years of Surgery.” New England Journal of Medicine 366 (May 3, 2012): 1716–23. doi: 10.1056/NEJMra1202392.

  Genetic Information Nondiscrimination Act of 2008, Pub. L. No. 110–233 (2008). www.gpo.gov/fdsys/pkg/PLAW-110publ233/html/PLAW-110publ233.htm.

  Gessen, Masha. “A Medical Quest: In Which I Gain a Greater Understanding of Breasts and Ovaries.” Slate, June 14, 2004.

  Gessen, Masha. Blood Matters: From Inherited Illness to Designer Babies, How the World and I Found Ourselves in the Future of the Gene. New York: Mariner Books, Houghton Mifflin Harcourt, 2008.

  Gitschier, Jane. “Evidence Is Evidence: An Interview with Mary-Claire King.” PLOS Genetics 9, no. 9, September 26, 2013: e1003828. doi:10.1371/journal.pgen.1003828.

  Gold, E. Richard, and Julia Carbone. “Myriad Genetics: In the Eye of the Policy Storm.” Supplement, Genetics in Medicine 12, no. 4 April 2010: S39–70.

  Gonzales-Angulo, A. M., F. Morales-Vasquez, and G. N. Hortobagyi. “Overview of Resistance to Systemic Therapy in Patients with Breast Cancer.” Advances in Experimental Medicine and Biology, 608 (2007): 1–22.

  Gøtzsche, P. C. “Relation Between Breast Cancer Mortality and Screening Effectiveness: Systematic Review of the Mammography Trials.” Danish Medical Bulletin, 58(3), (March, 2011): A4246.

  Graeser, M. K., C. Engel, K. Rhiem, D. Gadzicki, U. Bick, K. Kast, U. G. Froster, et al. “Contralateral Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.” Journal of Clinical Oncology 27, no. 35 (December 10, 2009): 5887–92. doi: 10.1200/JCO.2008.19.9430.

  Guarneri, V., and P. F. Conte. “The Curability of Breast Cancer and the Treatment of Advanced Disease.” European Journal of Nuclear Medicine and Molecular Imaging, 31 Suppl. (June 2004): S149–61.

  Gurdin, Michael, and Gene A. Carlin. “Complications of Breast Implantations.” Plastic and Reconstructive Surgery 40, no. 6 (1967): 530–33.

  Haiken, Elizabeth. Venus Envy: A History of Cosmetic Surgery. Baltimore: The Johns Hopkins University Press, 1997.

  Hajdu, S. “A Note from History: Landmarks in History of Cancer, Part 1.” Cancer 117 (October 19, 2010): 1097–1102. doi: 10.1002/cncr.25553.

  Hall, J. M., M. K. Lee, B. Newman, J. E. Morrow, L. A. Anderson, B. Huey, and M. C. King. “Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21.” Science 250, December 21, 1990: 1684–89.

  Hartmann, L. C., T. A. Sellers, D. J. Schaid, T. S. Frank, C. L. Soderbe
rg, D. L. Sitta, M. H. Frost, et al. “Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers.” Journal of the National Cancer Institute 93, no. 21 (November 7, 2001): 1633–37.

  Hemlow, Joyce, ed. Fanny Burney: Selected Letters and Journals. Oxford: Clarendon Press, 1986.

  Imber, Gerald. Genius on the Edge: The Bizarre Double Life of Dr. William Stewart Halsted. New York: Kaplan Publishing, 2010.

  Ingham, S. L., M. Sperrin, and D. G. Evans. “Risk-Reducing Surgery Increases Survival in BRCA1/2; Mutation Carriers Unaffected at Time of Family Referral.” Breast Cancer Research and Treatment 142, no. 3 (December 2013): 611–18.

  Jacobsen, Oluf. Heredity in Breast Cancer: A Genetic and Clinical Study of Two Hundred Probands. English trans. Robert Fraser. Copenhagen: Nyt Nordisk Forlag, Arnold Busck, 1946.

  Jacobson, Nora. Cleavage: Technology, Controversy, and the Ironies of the ManMade Breast. New Brunswick, New Jersey: Rutgers University Press, 2000.

  Jaffe, S. “Mary-Claire King.” Scientist 18, no. 5, March 15, 2004. Accessed March 8, 2014. www.the-scientist.com/?articles.view/articleNo/15482/title/Mary-Claire-King.

  Kasper, Anne S. and Susan J. Ferguson. Breast Cancer: Society Shapes an Epidemic. New York: St. Martin’s Press, 2000.

  King, Mary-Claire. “‘The Race’ to Clone BRCA1.” Science, vol. 343 no. 6178, March 24, 2014: 1462–1465.

  King, M., S. Wieand, K. Hale, M. Lee, T. Walsh, K. Owens, J. Tait, 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.” Journal of the American Medical Association 286, no. 18 (November 14, 2001): 2251–56.

  King, M. C., J. H. Marks, J. B. Mandell, and New York Breast Cancer Study Group. “Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2.” Science 302, no. 5645 (October 24, 2003): 643–46.

  Kösters, J. P. and P. C. Gøtzsche. “Regular Self-Examination or Clinical Examination for Early Detection of Breast Cancer.” Cochrane Database of Systematic Reviews 2 (2003): CD003373.

  Lathan, S. Robert. “Dr. Halsted at Hopkins and at High Hampton.” Baylor University Medical Center Proceedings 23, no. 1 (January 2010): 33–37.

  Leopold, Ellen. A Darker Ribbon: Breast Cancer, Women, and Their Doctors in the Twentieth Century. Boston: Beacon Press, 1999.

  Lord, S. J., W. Lei, P. Craft, J. N. Cawson, I. Morris, S. Walleser, A. Griffiths, 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.” European Journal of Cancer 43, no. 13 (September 2007): 1905–17.

  Loukas, M., R. S. Tubbs, N. Mirzayan, M. Shirak, A. Steinberg, and M. M. Shoja. “The History of Mastectomy.” American Surgeon 77.5 (May 2011): 566–71.

  Löwy, Ilana. Preventive Strikes: Women, Precancer, and Prophylactic Surgery. Baltimore: The Johns Hopkins University Press, 2010.

  Metcalfe, K., S. Gershman, P. Ghadirian, H. T. Lynch, C. Snyder, N. Tung, C. Kim-Sing, et al. “Contralateral Mastectomy and Survival after Breast Cancer in Carriers of BRCA1 and BRCA2 Mutations: Retrospective Analysis.” BMJ (February 11, 2014): 348:g226.

  Moslehi, R., R. Singh, L. Lessner, and J. M. Friedman. “Impact of BRCA Mutations on Female Fertility and Offspring Sex Ratio.” American Journal of Human Biology 22, no. 2 (March-April 2010): 201–5.

  Mukherjee, Siddhartha. The Emperor of All Maladies: A Biography of Cancer. New York: Scribner, 2010.

  National Library of Medicine. “The Edwin Smith Surgical Papyrus.” Accessed March 6, 2014. http://archive.nlm.nih.gov/proj/ttp/flash/smith/smith.html.

  Noonan, Kevin E. “Preliminary Injunction in Myriad v. Ambry and Gene-by-Gene: Myriad replies.” Patent Docs, October 9, 2013. Accessed March 6, 2014. www.patentdocs.org/2013/10/preliminary-injunction-in-myriad-v-ambry-and-gene-by-gene-myriad-replies.html.

  Oeters, Walter, and Victor Fornasier. “Complications from Injectable Materials Used for Breast Augmentation.” Canadian Journal of Plastic Surgery 17, no. 3 (Fall 2009): 89–96.

  Oken, Donald. “What to Tell Cancer Patients: A Study of Medical Attitudes.” Journal of the American Medical Association. 175, no. 13 (April 1, 1961): 1120–28.

  Oktay, Kutluk, J. Y. Kim, D. Barad, and S. N. Babayev. “Association of BRCA1 Mutations With Occult Primary Ovarian Insufficiency: A Possible Explanation for the Link Between Infertility and Breast/Ovarian Cancer Risks.” Journal of Clinical Oncology 28, no. 2 (January 10, 2010): 240–44.

  Olson, James S. Bathsheba’s Breast: Women, Cancer & History. Baltimore: The Johns Hopkins University Press, 2002.

  Pal, T., D. Keefe, P. Sun, S. A. Narod, and Hereditary Breast Cancer Clinical Study Group. “Fertility in Women with BRCA Mutations: A Case-Control Study.” Fertility and Sterility 93, no. 6 (April 2010): 1805–8.

  Passaperuma, K., E. Warner, and P. A. Causer. “Long-Term Results of Screening with Magnetic Resonance Imaging in Women with BRCA Mutations.” British Journal of Cancer 107, no. 1 (June 26, 2012): 24—30.

  Patenaude, Andrea Farkas. Genetic Testing for Cancer: Psychological Approaches for Helping Patients and Families. Washington, DC: American Psychological Association, 2005.

  Penn, Jack. “A Perspective and Technique for Breast Reduction,” in Plastic and Reconstructive Surgery of the Breast, edited by Robert M. Goldwyn. Boston: Little Brown, 1976.

  Pennisi, Vincent R., and Angelo Capozzi. “The Incidence of Obscure Carcinoma in Subcutaneous Mastectomy.” Plastic and Reconstructive Surgery 56, no. 1 (1975): 9—11.

  Pijpe, A., N. Andrieu, D. F. Easton, A. Kesminiene, E. Cardis, C. Noguès, M. Gauthier-Villars, et al. “Exposure to Diagnostic Radiation and Risk of Breast Cancer Among Carriers of BRCA1/2; Mutations: Retrospective Cohort Study (GENE-RAD-RISK).” BMJ (September 6, 2012): 345:e5660.

  Rebbeck, T. R., T. Friebel, H. T. Lynch, S. L. Neuhausen, L. van’t Veer, J. E. Garber, G. R. Evans, et al. “Bilateral Prophylactic Mastectomy Reduces Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers: The PROSE Study Group.” Journal of Clinical Oncology 22, no. 6 (March 15, 2004): 1055—62.

  Rocca, W. A., B. R. Grossardt, M. de Andrade, G. D. Malkasian, and L. J. Melton 3rd. “Survival Patterns after Oophorectomy in Premenopausal Women: A Population-Based Cohort Study.” Lancet Oncology 7, no. 10 (October 2006): 821—28.

  Rudnick, Joanna. In the Family. Film. Directed by Joanna Rudnick. Chicago: Kartemquin Films, 2008.

  Sandison, A. T. “The First Recorded Case of Inflammatory Mastitis—Queen Atossa of Persia and the Physician Democêdes.” Medical History 3, no. 4 (October 1959): 317–22.

  Schwartz, M. D., C. Isaacs, K. D. Graves, B. N. Peshkin, C. Gell, C. Finch, S. Kelly, et al. “Long-Term Outcomes of BRCA1/BRCA2 Testing: Risk Reduction and Surveillance.” Cancer 118, no. 2 (January 15, 2012): 510–17. doi: 10.1002/cncr.26294.

  Shuster, Lynne T., Bobbie S. Gostout, Brandon R. Grossardt, and Walter A. Rocca. “Prophylactic Oophorectomy in Premenopausal Women and Long-Term Health—A Review.” Menopause International 14, no. 3 (2008): 111–16.

  Simoni, Robert D., Robert L. Hill, and Martha Vaughn. “The Discovery of Estrone, Estriol, and Estradiol and the Biochemical Study of Reproduction. The Work of Edward Adelbert Doisy.” Journal of Biological Chemistry 277, e17 (July 12, 2002).

  Singh, K., J. Lester, B. Karlan, C. Bresee, T. Geva, and O. Gordon. “Impact of Family History on Choosing Risk-Reducing Surgery among BRCA Mutation Carriers.” American Journal of Obstetrics and Gynecology 208, no. 4 (April 2013): 329.e1–6.

  Skolnick, Mark. “Declaration of Mark Skolnick,” AMP et al. v. Myriad Genetics. United States District Court for the Southern District of New York. December 23, 2009: No. 09 Civ. 4515.

  Sleeman, Jonathan, and Patricia S. Steeg. “Cancer Metastasis as a Therapeutic Target.” European Journal of Cancer 46, no. 7 (May 2012): 1177–80.

  Stark, Lizzie. “Goodbye to My Breasts.” D
aily Beast, April 24, 2010. www.thedailybeast.com/articles/2010/04/24/good-bye-to-my-breasts.html.

  Tavtigian, S. V., J. Simard, J. Rommens, F. Couch, D. Shattuck-Eidens, S. Neuhausen, S. Merajver, et al. “The Complete BRCA2 Gene and Mutations in 13q-Linked Kindreds.” Nature Genetics 12, (March, 1996): 1–6.

  Thomas, D. B., D. L. Gao, R. M. Ray, W. W. Wang, C. J. Allison, F.L. Chen, P. Porter, et al. “Randomized Trial of Breast Self-Examination in Shanghai: Final Results.” Journal of the National Cancer Institute 94, no. 19 (October 2, 2002): 1445–57.

  Thomas, T. G. “On the Removal of Benign Tumors of the Mamma without Mutilation of the Organ.” N.Y. State J. Med. Obstet. Rev. (April 1882): 337–40.

  van der Groep, Petra, Elsken van der Wall, and Paul J. van Diest. “Pathology of Hereditary Breast Cancer.” Cellular Oncology (Dordrecht) 34, no. 2, April 2011: 71–88.

  van Sprundel, T. C., M. K. Schmidt, M. A. Rookus, R. Brohet, C. J. van Asperen, E. J. Rutgers, L. J. Van’t Veer, et al. “Risk Reduction of Contralateral Breast Cancer and Survival after Contralateral Prophylactic Mastectomy in BRCA1 or BRCA2 Mutation Carriers.” British Journal of Cancer 93, no. 3 (2005): 287–92.

  Waldholz, Michael. Curing Cancer: The Story of the Men and Women Unlocking the Secrets of Our Deadliest Illness. New York: Simon & Schuster, 1997.