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Assessment of High Risk of Hereditary Breast and Ovarian Cancer (HBOC) and Acceptance for Genetic Testing Among Cases of Ovarian and Breast Cancer in Indian Set-up

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Indian Journal of Gynecologic Oncology Aims and scope Submit manuscript

Abstract

Objectives

To identify cases needing genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome among cases of breast and ovarian cancer and assess their acceptability for genetic testing.

Materials and Methods

One hundred patients of breast and/or ovarian cancer were recruited. A series of family meetings were done with patient and close family members. The first meeting was for pedigree chart preparation and identification of cases for genetic testing (HBOC) as per NCCN 2013 criteria. Second family meeting was held for counselling about genetic testing. Third meeting was held for recording acceptance or refusal for genetic testing. For those refusing the test, reasons for refusal were recorded. Outcome measures including prevalence of high-risk cases, acceptance rate for genetic testing and factors affecting the above acceptance rates among high-risk women were statistically analysed.

Results

Out of 100 patients of breast and ovarian cancer recruited in the study, 88 were found to be at high risk of HBOC. The most common criterion for high risk among breast cancer cases was age below 45 years. Family history of breast or ovarian cancer was present in 3.03% cases of ovarian cancer and 11.76 cases of breast cancer. Eleven (16.66%) cases of epithelial ovarian carcinoma and six (27.27%) cases of breast carcinoma accepted genetic testing. Socioeconomic status was found to have statistically significant correlation (p < 0.001 and p = 0.030) with acceptance for genetic testing.

Conclusion

Though it is a small sample study, there is huge burden of women needing genetic testing for HBOC. There is lack of awareness about familial nature of disease and low acceptance for genetic testing in our population. There is a significant effect of socioeconomic status on acceptance for genetic testing.

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References

  1. American College of Obstetricians and Gynecologists; ACOG Committee on Practice Bulletins—Gynecology; ACOG Committee on Genetics; Society of Gynecologic Oncologists. ACOG Practice Bulletin No. 103: hereditary breast and ovarian cancer syndrome. Obstet Gynecol. 2009;113(4):957–66.

    Article  Google Scholar 

  2. Petrucelli N, Daly M, Feldman G. BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer. Gene reviews. Funded by the NIH. Developed at the University of Washington, Seattle. Posted: 3 Sept 1998. Updated 20 Jan 2011. http://www.ncbi.nlm.nih.gov/books/NBK1247/. Accessed 8 July 2013.

  3. National Comprehensive Cancer Network® (NCCN) b. NCCN GUIDELINES™ Clinical Guidelines in Oncology™. Genetic/familial high-risk assessment: breast and ovarian. Version.3. 2013. © National Comprehensive Cancer Network, Inc 2013, All Rights Reserved. http://www.nccn.org/clinical.asp. Accessed 8 July 2013.

  4. Murthy NS, Shalini S, Suman G, Pruthvish S, Mathew A. Changing trends in incidence of ovarian cancer—the Indian scenario. Asian Pac J Cancer Prev. 2009;10(6):1025–30.

    PubMed  Google Scholar 

  5. Anderson WF, Chu KC, Chang S, Sherman ME. Comparison of age-specific incidence rate patterns for different histopathologic types of breast carcinoma. Cancer Epidemiol Biomarkers Prev. 2004;13:1128–35.

    PubMed  Google Scholar 

  6. An assessment of the burden and care of cancer patients. Five year consolidated report on Hospital Based Cancer Registries: 1994–1998. http://ncdirindia.org/NCRP/Rep1/FIve_Yr_HBCR.aspx

  7. Negri E, Franceschi S, Tzonou A, Booth M, La Vecchia C, Parazzini F, Beral V, Boyle P, Trichopoulos D. Pooled analysis of 3 European case–control studies: I. Reproductive factors and risk of epithelial ovarian cancer. Int J Cancer. 1991;49(1):50–7.

    Article  CAS  Google Scholar 

  8. Yen ML, Yen BL, Bai CH, Lin RS. Risk factors for ovarian cancer in Taiwan: a case–control study in a low-incidence population. Gynecol Oncol. 2003;89(2):318–24.

    Article  Google Scholar 

  9. Scully RE, Young RH, Clement PB. Tumors of the ovary, maldeveloped gonads, fallopian tube and broad ligament. Atlas of tumor pathology. Third series, Fascicle 23. Armed Forces Institute of Pathology, Washington, DC; 1998. ISBN: 1 881041 43 3.

  10. Berek JS, Hacker NF. Berek & Hacker’s gynecologic oncology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2009. p. 443–508.

    Google Scholar 

  11. ASCO's patient information website—Cancer.Net (https://www.cancer.net) Cancer.Net Editorial Board. http://ncdirindia.org/NCRP/Rep1/FIve_Yr_HBCR.aspx

  12. Bodicoat DH, Schoemaker MJ, Jones ME, McFadden E, Griffin J, Ashworth A, Swerdlow AJ. Timing of pubertal stages and breast cancer risk: the Breakthrough Generations Study. Breast Cancer Res. 2014;16(1):R18.

    Article  Google Scholar 

  13. Szpurek D, Moszynski R, Szubert S, Sajdak S. Urban and rural differences in characteristics of ovarian cancer patients. Ann Agric Environ Med. 2013;20(2):390–4.

    PubMed  Google Scholar 

  14. Parazzini F, Franceschi S, La Vecchia C, Fasoli M. The epidemiology of ovarian cancer. Gynecol Oncol. 1991;43(1):9–23.

    Article  CAS  Google Scholar 

  15. Antoniou A, Pharoah PD, Narod S, 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  Google Scholar 

  16. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol. 2007;25:1329–33. https://doi.org/10.1200/JCO.2006.09.1066.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Howlader N, Noone AM, Krapcho M, Miller D, Bishop K, Kosary CL, Yu M, Ruhl J, Tatalovich Z, Mariotto A, Lewis DR, Chen HS, Feuer EJ, Cronin KA (eds). SEER cancer statistics review, 1975–2014. Bethesda, MD: National Cancer Institute; 2014.

    Google Scholar 

  18. Gao X, Fisher SG, Emami B. Risk of second primary cancer in the contralateral breast in women treated for early-stage breast cancer: a population-based study. Int J Radiat Oncol Biol Phys. 2003;56(4):1038–45.

    Article  Google Scholar 

  19. Cragun D, Bonner D, Kim J, Akbari MR, Narod SA, Gomez-Fuego A, Garcia JD, Vadaparampil ST, Pal T. Factors associated with genetic counseling and BRCA testing in a population-based sample of young Black women with breast cancer. Breast Cancer Res Treat. 2015;151(1):169–76. https://doi.org/10.1007/s10549-015-3374-7.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Saam J, Moyes K, Landon M, Williams K, Kaldate RR, Arnell C, Wenstrup R. Hereditary cancer-associated mutations in women diagnosed with two primary cancers: an opportunity to identify hereditary cancer syndromes after the first cancer diagnosis. Oncology. 2015;88(4):226–33.

    Article  Google Scholar 

  21. Easton DF, Ford D, Bishop DT, et al. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet. 1995;56(1):265–71.

    CAS  PubMed  PubMed Central  Google Scholar 

  22. Lundy MG, Forman A, Valverde K, Kessler L. An investigation of genetic counselors’ testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing. J Genet Couns. 2014;23(4):618–32. https://doi.org/10.1007/s10897-014-9692-9.

    Article  PubMed  Google Scholar 

  23. Lynch HT, Lemon SJ, Durham C, Tinley ST, Connolly C, Lynch JF, Surdam J, Orinion E, Slominski-Caster S, Watson P, Lerman C, Tonin P, Lenoir G, Serova O, Narod S. A descriptive study of BRCA1 testing and reactions to disclosure of test results. Cancer. 1997;79:2219–28.

    Article  CAS  Google Scholar 

  24. Nakagomi H, Sakamoto I, Hirotsu Y, Amemiya K, Mochizuki H, Inoue M, Nakagomi S, Kubota T, Omata M. Willingness of Japanese patients with breast cancer to have genetic testing of BRCA without burden of expenses. Breast Cancer. 2016;23(4):649–53. https://doi.org/10.1007/s12282-015-0618-7.

    Article  PubMed  Google Scholar 

  25. Thomson CS, Hole DJ, Twelves CJ, Brewster DH, Black RJ, Scottish Cancer Therapy Network. Prognostic factors in women with breast cancer: distribution by socioeconomic status and effect on differences in survival. J Epidemiol Community Health. 2001;55(5):308–15.

    Article  CAS  Google Scholar 

  26. Kinney AY, Simonsen SE, Baty BJ, et al. Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred. Am J Med Genet A. 2006;140(8):813–26.

    Article  Google Scholar 

  27. Yoon SY, Thong MK, Taib NA, Yip CH, Teo SH. Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer. 2011;10(2):199–205. https://doi.org/10.1007/s10689-011-9420-7.

    Article  PubMed  Google Scholar 

  28. Joseph G, Beattie MS, Lee R, et al. Pre-counseling education for low literacy women at risk of hereditary breast and ovarian cancer (HBOC): patient experiences using the cancer risk education intervention tool (CREdIT). J Genet Couns. 2010;19(5):447–62.

    Article  Google Scholar 

  29. Lerman C, Narod S, Schulman K, Hughes C, et al. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996;275(24):1885–92.

    Article  CAS  Google Scholar 

  30. Kieran S, Loescher LJ, Lim KH. The role of financial factors in acceptance of clinical BRCA genetic testing. Genet Test. 2007;11:101–10.

    Article  Google Scholar 

  31. Domchek SM, Friebel TM, Neuhausen SL, et al. Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol. 2006;7(3):223–9.

    Article  CAS  Google Scholar 

  32. Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304(9):967–75. https://doi.org/10.1001/jama.2010.1237.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  33. Kriege M, Brekelmans CT, Boetes C, Besnard PE, et al. Magnetic resonance imaging screening study group. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med. 2004;351(5):427–37.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Obstetrics and Gynaecology, King Georges Medical University, Lucknow, UP, 226003, India

    Nisha Singh, Sukriti Shukla, Shuchi Agrawal & Uma Singh

  2. Department of Surgical Oncology, King Georges Medical University, Lucknow, UP, India

    Vijay Kumar

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Correspondence to Shuchi Agrawal.

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Singh, N., Shukla, S., Agrawal, S. et al. Assessment of High Risk of Hereditary Breast and Ovarian Cancer (HBOC) and Acceptance for Genetic Testing Among Cases of Ovarian and Breast Cancer in Indian Set-up. Indian J Gynecol Oncolog 17, 35 (2019). https://doi.org/10.1007/s40944-019-0280-7

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  • DOI: https://doi.org/10.1007/s40944-019-0280-7

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