Top

Published in:

Open Access 01-12-2017 | Case Presentation

When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges

Authors: Beverley Speight, Marc Tischkowitz

Published in: Journal of Genetic Counseling | Issue 6/2017

Abstract

Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic counseling about BRCA1-associated breast cancer risk in the three years following diagnosis. The report centers on the patient’s enquiry about risk-reducing breast surgery. We focus on the challenges for health professionals and patients in understanding and balancing the risks and benefits of major prophylactic surgery in the context of a potentially life-limiting cancer diagnosis. Breast cancer risk management in BRCA1/BRCA2 carriers with advanced ovarian cancer is an under-explored area of genetic counseling research. This article includes a case report, a review of the relevant literature and considers some implications for practice.

Alsop, K., Fereday, S., Meldrum, C., deFazio, A., Emmanuel, C., George, J., et al. (2012). BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: A report from the Australian ovarian cancer study group. Journal of Clinical Oncology, 30(21), 2654–2663. doi:10.1200/JCO.2011.39.8545.CrossRefPubMedPubMedCentral

du Bois, A., Reuss, A., Pujade-Lauraine, E., Harter, P., Ray-Coquard, I., & Pfisterer, J. (2009). Role of surgical outcome as prognostic factor in advanced epithelial ovarian cancer: a combined exploratory analysis of 3 prospectively randomized phase 3 multicenter trials: by the Arbeitsgemeinschaft Gynaekologische Onkologie Studiengruppe Ovarialkarzinom (AGO-OVAR) and the Groupe d'Investigateurs Nationaux Pour les Etudes des Cancers de l'Ovaire (GINECO). Cancer, 115(6), 1234–1244. doi:10.1002/cncr.24149.CrossRefPubMed

Bolton, K. L., Chenevix-Trench, G., Goh, C., Sadetzki, S., Ramus, S. J., Karlan, B. Y., et al. (2012). Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA, 307(4), 382–390. doi:10.1001/jama.2012.20.CrossRefPubMedPubMedCentral

Bookman, M. A., Brady, M. F., McGuire, W. P., Harper, P. G., Alberts, D. S., Friedlander, M., et al. (2009). Evaluation of new platinum-based treatment regimens in advanced-stage ovarian cancer: A phase III trial of the gynecologic cancer intergroup. Journal of Clinical Oncology, 27(9), 1419–1425. doi:10.1200/JCO.2008.19.1684.CrossRefPubMedPubMedCentral

Candido-dos-Reis, F. J., Song, H., Goode, E. L., Cunningham, J. M., Fridley, B. L., Larson, M. C., et al., Australian Ovarian Cancer Study, G. (2015). Germline mutation in BRCA1 or BRCA2 and ten-year survival for women diagnosed with epithelial ovarian cancer. Clinical Cancer Research, 21(3), 652–657. doi:10.1158/1078-0432.CCR-14-2497.

Domchek, S. M., Jhaveri, K., Patil, S., Stopfer, J. E., Hudis, C., Powers, J., et al. (2013). Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer. Cancer, 119(7), 1344–1348. doi:10.1002/cncr.27842.CrossRefPubMed

Easton, D. F., Pharoah, P. D., Antoniou, A. C., Tischkowitz, M., Tavtigian, S. V., Nathanson, K. L., & Foulkes, W. D. (2015). Gene-panel sequencing and the prediction of breast-cancer risk. The New England Journal of Medicine, 372(23), 2243–2257. doi:10.1056/NEJMsr1501341.CrossRefPubMedPubMedCentral

Evans, D. G., Barwell, J., Eccles, D. M., Collins, A., Izatt, L., Jacobs, C., & Murray, A. (2014). The Angelina Jolie effect: How high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Research, 16(5), 442. doi:10.1186/s13058-014-0442-6.CrossRefPubMedPubMedCentral

Evans, D. G., Wisely, J., Clancy, T., Lalloo, F., Wilson, M., Johnson, R., & Howell, A. (2015). Longer term effects of the Angelina Jolie effect: Increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women. Breast Cancer Research, 17, 143. doi:10.1186/s13058-015-0650-8.CrossRefPubMedPubMedCentral

Gangi, A., Cass, I., Paik, D., Barmparas, G., Karlan, B., Dang, C., & Amersi, F. F. (2014). Breast cancer following ovarian cancer in BRCA mutation carriers. JAMA Surgery, 149(12), 1306–1313. doi:10.1001/jamasurg.2014.1081.CrossRefPubMed

George, A. (2015). UK BRCA mutation testing in patients with ovarian cancer. British Journal of Cancer, 113(Suppl 1), S17–S21. doi:10.1038/bjc.2015.396.CrossRefPubMedPubMedCentral

Hartmann, L. C., & Lindor, N. M. (2015). The role of risk-reducing surgery in hereditary breast and ovarian cancer. New England Journal of Medicine, 374(5), 454–468. doi:10.1056/NEJMra1503523.CrossRef

Heiniger, L., Price, M. A., Charles, M., Butow, P. N., & kConFab Psychosocial Group on behalf of the kConFab, I. (2015). Facilitators and challenges in psychosocial adaptation to being at increased familial risk of breast cancer. Journal of Genetic Counseling, 24(6), 890–907. doi:10.1007/s10897-015-9824-x.CrossRef

Konecny, G. E., & Kristeleit, R. S. (2016). PARP inhibitors for BRCA1/2-mutated and sporadic ovarian cancer: Current practice and future directions. British Journal of Cancer, 115(10), 1157–1173. doi:10.1038/bjc.2016.311.CrossRefPubMedPubMedCentral

Kriege, M., Brekelmans, C. T., Boetes, C., Besnard, P. E., Zonderland, H. M., Obdeijn, I. M., & Magnetic Resonance Imaging Screening Study, G. (2004). Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. The New England Journal of Medicine, 351(5), 427–437. doi:10.1056/NEJMoa031759.CrossRefPubMed

Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., & Embrace. (2013). Cancer risks for BRCA1 and BRCA2 mutation carriers: Results from prospective analysis of EMBRACE. Journal of the National Cancer Institute, 105(11), 812–822. doi:10.1093/jnci/djt095.CrossRefPubMed

McGee, J., Giannakeas, V., Karlan, B., Lubinski, J., Gronwald, J., Rosen, B., McLaughlin, J., Risch, H., Sun, P., Foulkes, W. D., Neuhausen, S. L., Kotsopoulos, J., Narod, S. J., & the Hereditary Ovarian Cancer Clinical Study Group. (2017). Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted? Gynaecologic Oncology, 145, 346–351. doi:10.1016/j.ygyno.2017.02.032.CrossRef

McLaughlin, J. R., Rosen, B., Moody, J., Pal, T., Fan, I., Shaw, P. A., Risch, H. A., Sellers, T. A., Sun, P., & Narod, S. A. (2012). Long-term ovarian cancer survival associated with mutation in BRCA1 or BRCA2. Journal of the National Cancer Institute, 105(2), 141–148. doi:10.1093/jnci/djs494.CrossRefPubMed

Narod, S. (2016). Can advanced-stage ovarian cancer be cured? Nature Reviews. Clinical Oncology, 13(4), 255–261. doi:10.1038/nrclinonc2015.224.CrossRefPubMed

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) (2016) Genetic/Familial High-Risk Assessment: Breast and Ovarian Version 2.2017 — December 7, 2016.

NICE. (2013). Clinical guideline CG164. Familial breast cancer: Classification, care and managing breast cancer and related risks in people with a family history of breast cancer. 1–60, available from http://www.nice.org.uk/guidance/cg164.

Ozga, M., Aghajanian, C., Myers-Virtue, S., McDonnell, G., Jhanwar, S., Hichenberg, S., & Sulimanoff, I. (2015). A systematic review of ovarian cancer and fear of recurrence. Palliative & Supportive Care, 13(6), 1771–1780. doi:10.1017/S1478951515000127.CrossRef

Plaskocinska, I., Shipman, H., Drummond, J., Thompson, E., Buchanan, V., Newcombe, B., et al. (2016). New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: Results of the genetic testing in epithelial ovarian cancer (GTEOC) study. Journal of Medical Genetics, 53(10), 655–661. doi:10.1136/jmedgenet-2016-103902.CrossRefPubMedPubMedCentral

Reb, A. M. (2007). Transforming the death sentence: Elements of hope in women with advanced ovarian cancer. Oncology Nursing Forum, 34(6), E70–E81. doi:10.1188/07.ONF.E70-E81.CrossRefPubMed

Vencken, P. M., Kriege, M., Hooning, M., Menke-Pluymers, M. B., Heemskerk-Gerritsen, B. A., van Doorn, L. C., et al. (2013). The risk of primary and contralateral breast cancer after ovarian cancer in BRCA1/BRCA2 mutation carriers: Implications for counseling. Cancer, 119(5), 955–962. doi:10.1002/cncr.27839.CrossRefPubMed

Yang, D., Khan, S., Sun, Y., Hess, K., Shmulevich, I., Sood, A. K., & Zhang, W. (2011). Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer. JAMA, 306(14), 1557–1565. doi:10.1001/jama.2011.1456.CrossRefPubMedPubMedCentral

Title: When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges
Authors: Beverley Speight
Marc Tischkowitz
Publication date: 01-12-2017
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 6/2017
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-017-0136-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 6/2017

An Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC)

“If It Helps, It’s Worth a Try”: an Investigation of Perceptions and Attitudes about Genetic Counseling among Southern Manitoba Hutterites

Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017)

“It was a lot Tougher than I Thought It would be”. A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier

Cancer Genetic Counseling and Testing in an Era of Rapid Change

Universal BRCA1/BRCA2 Testing for Ovarian Cancer Patients is Welcomed, but with Care: How Women and Staff Contextualize Experiences of Expanded Access