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
- 1 Downloads
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.
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.
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.
KeywordsHBOC BRCA1 BRCA2
Compliance with Ethical Standards
Conflict of interest
All the authors have read and approved the manuscript, and there is no conflict of interest.
- 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.CrossRefGoogle 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.
- 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
- 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.Google Scholar
- 10.Berek JS, Hacker NF. Berek & Hacker’s gynecologic oncology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2009. p. 443–508.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
- 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.CrossRefPubMedPubMedCentralGoogle 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.CrossRefPubMedGoogle 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.CrossRefPubMedGoogle Scholar