Practical consensus recommendation on when to do BRCA testing

Purvish M. Parikh; J. Wadhwa; S. Minhas; A. Gupta; S. Mittal; S. Ranjan; P. Mehta; R. Singh; S. P. Kataria; S. Salim; M. Ahmed; S. Aggarwal

doi:10.4103/sajc.sajc_112_18

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Original Article

07 (

); 106-106

doi:

10.4103/sajc.sajc_112_18

Practical consensus recommendation on when to do BRCA testing

Purvish M. Parikh^1,, J. Wadhwa², S. Minhas³, A. Gupta⁴, S. Mittal⁵, S. Ranjan⁶, P. Mehta⁷, R. Singh⁸, S. P. Kataria⁹, S. Salim¹⁰, M. Ahmed¹¹, S. Aggarwal³

1 Department of Oncology, Shalby Cancer and Research Institute, Mumbai, Maharashtra

2 Department of Medical Oncology, Medanta Hospital, Gurugram, Haryana

3 Department of Medical Oncology, Sir Ganga Ram Hospital, New Delhi

4 Department of Radiation Oncology, Safdarjung Hospital, New Delhi

5 Department of Medical Oncology, Action Balajee Cancer Center, New Delhi

6 Department of Medicine, INHS Sanjivani, Kochi, Kerala

7 Department of Medical Oncology, Asian Institute of Medical Sciences, Faridabad, Haryana

8 Department of Medical Oncology, Artemis Hospital, Gurugram, Haryana

9 Department of Medical Oncology, Safdarjung Hospital, New Delhi

10 Department of Oncology, Hakim Sanaullah Cancer Center, Baramulla, Jammu and Kashmir

11 Department of Radiation Oncology, Jolly Grant Himalayan Institute, Dehradoon, Uttarakhand

*Corresponding author: Dr. Purvish M. Parikh. purvish1@gmail.com

Published: 2020-12-22

MedIntel Services Pvt Ltd. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/.)

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Abstract

BRCA-mutation associated breast cancer and to future cancer risks and sensitivity to systemic therapies. Now that rapid genetic testing for BRCA1 and BRCA2 mutations is available, BRCA mutation status can be considered when making treatment and prevention decisions for BRCA testing, BRCA mutation carriers with breast cancer. Expert group used data from published literature, practical experience, and opinion of a large group of academic oncologists, to arrive at practical consensus recommendations for use by the community oncologists.

Keywords

References

National Cancer Registry Programme, Indian Council of Medical Research. Leading sites of cancer. In: Consolidated Report of Population Based Cancer Registries 20012004, Incidence and Distribution of Cancer. Bangalore: Coordinating Unit, National Cancer Registry Programme (ICMR); 2006. p. 8-30.
Badwe RA, Gangawal S, Mittra I, Desai PB. Clinico-pathological features and prognosis of breast cancer in different religious communities in India. Indian J Cancer 1990;27:220-8.
Altekruse SF, Kosary CL, Krapcho M, editors. SEER Cancer Statistics Review. National Cancer Institute; 19752007.
National Cancer Registry Program. Ten Year Consolidated Report of the Hospital Based Cancer Registries, 1984–1993, An Assessment of the Burden and Care of Cancer Patients. New Delhi: Indian Council of Medical Research; 2001.
Agarwal G, Pradeep PV, Aggarwal V, Yip CH, Cheung PS. Spectrum of breast cancer in Asian women. World J Surg 2007;31:1031-40.
Chopra R. The Indian scene. J Clin Oncol 2001;19 18 Suppl: 106S-11S.
Aggarwal V, Agarwal G, Lal P, Krishnani N, Mishra A, Verma AK, et al. Feasibility study of safe breast conservation in large and locally advanced cancers with use of radiopaque markers to mark pre-neoadjuvant chemotherapy tumor margins. World J Surg 2008;32:2562-9.
Murthy NS, Agarwal UK, Chaudhry K, Saxena S. A study on time trends in incidence of breast cancer – Indian scenario. Eur J Cancer Care (Engl) 2007;16:185-6.
de Waard F. Breast cancer incidence and nutritional status with particular reference to body weight and height. Cancer Res 1975;35:3351-6.
Gajalakshmi CK, Shanta V. Risk factors for female breast cancer. A hospital-based case-control study in Madras, India. Acta Oncol 1991;30:569-74.
Jussawalla DJ, Yeole BB, Natekar MV. Histological and epidemiological features of breast cancer in different religious groups in greater Bombay. J Surg Oncol 1981;18:269-79.
Jussawalla DJ, Jain DK. Breast cancer and religion in greater Bombay women: An epidemiological study of 2130 women over a 9-year period. Br J Cancer 1977;36 Suppl 5:634-8.
Jussawalla DJ, Yeole BB, Natekar MV, Narayan RA. Epidemiology of breast cancer in India. Indian J Cancer 1975;12:231-42.
Rao DN, Ganesh B. Estimate of cancer incidence in India in 1991. Indian J Cancer 1998;35 Suppl 1:10-8.
Rao DN, Ganesh B, Desai PB. Role of reproductive factors in breast cancer in a low-risk area: A case-control study. Br J Cancer 1994;70:129-32.
Rao DN, Dinshaw KA. Epidemiological Review: In Risk Factors and Survival Rates. Mumbai: Hospital Cancer Registry, Division of Epidemiology and Biostatistics, Tata Memorial Hospital; 1999. p. 1-7.
Anderson DE. Some characteristics of familial breast cancer. Cancer 1971;28 Suppl 6:1500-4.
Saxena S, Rekhi B, Bansal A, Bagga A, Chintamani, Murthy NS, et al. Clinico-morphological patterns of breast cancer including family history in a New Delhi hospital, India – a cross-sectional study. World J Surg Oncol 2005;3:67.
Valarmathi MT, A A, Deo SS, Shukla NK, Das SN. BRCA1 germline mutations in Indian familial breast cancer. Hum Mutat 2003;21:98-9.
Kumar BV, Lakhotia S, Ankathil R, Madhavan J, Jayaprakash PG, Nair MK, et al. Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families. Cancer Biol Ther 2002;1:18-21.
Rajkumar T, Soumittra N, Nancy NK, Swaminathan R, Sridevi V, Shanta V, et al. BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev 2003;4:203-8.
Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, et al. Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res Treat 2004;88:177-86.
Tercyak KP, Peshkin BN, Brogan BM, DeMarco T, Pennanen MF, Willey SC, et al. Quality of life after contralateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2 gene testing. J Clin Oncol 2007;25:285-91.
Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. Hum Mutat 2004;23:205.
Genetic/Familial High-Risk Assessment: Breast and Ovarian. NCCN Guidelines version 1; 2011. Available from: http://www.nccn.org.
Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T, et al. Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev 2005;14:1003-7.
Wevers MR, Ausems MG, Verhoef S, Bleiker EM, Hahn DE, Hogervorst FB, et al. Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial. BMC Cancer 2011;11:6.
Frost MH, Slezak JM, Tran NV, Williams CI, Johnson JL, Woods JE, et al. Satisfaction after contralateral prophylactic mastectomy: The significance of mastectomy type, reconstructive complications, and body appearance. J Clin Oncol 2005;23:7849-56.
Carey LA, Sharpless NE. PARP and cancer – if it's broke, don't fix it. N Engl J Med 2011;364:277-9.
Gartner EM, Burger AM, Lorusso PM. Poly (adp-ribose) polymerase inhibitors: A novel drug class with a promising future. Cancer J 2010;16:83-90.
Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001;68:700-10.
ACOG. The American Congress of Obstetricians and Gynecologists. Washington, DC: American Congress of Obstetricians and Gynecologists. Available from: http://www.acog.org/from_home/proxy/. [Last accessed on 2010 Sep 20].
Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004;4:665-76.
Jatoi I, Anderson WF. Management of women who have a genetic predisposition for breast cancer. Surg Clin North Am 2008;88:845-61, vii-viii.
Parikh PM, Gupta S, Parikh B, Smruti BK, Issrani J, Topiwala S, et al. Management of primary and metastatic triple negative breast cancer: Perceptions of oncologists from India. Indian J Cancer 2011;48:158-64.

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[1] National Cancer Registry Programme, Indian Council of Medical Research. Leading sites of cancer. In: Consolidated Report of Population Based Cancer Registries 20012004, Incidence and Distribution of Cancer. Bangalore: Coordinating Unit, National Cancer Registry Programme (ICMR); 2006. p. 8-30.

[2] Badwe RA, Gangawal S, Mittra I, Desai PB. Clinico-pathological features and prognosis of breast cancer in different religious communities in India. Indian J Cancer 1990;27:220-8.

[3] Altekruse SF, Kosary CL, Krapcho M, editors. SEER Cancer Statistics Review. National Cancer Institute; 19752007.

[4] National Cancer Registry Program. Ten Year Consolidated Report of the Hospital Based Cancer Registries, 1984–1993, An Assessment of the Burden and Care of Cancer Patients. New Delhi: Indian Council of Medical Research; 2001.

[5] Agarwal G, Pradeep PV, Aggarwal V, Yip CH, Cheung PS. Spectrum of breast cancer in Asian women. World J Surg 2007;31:1031-40.

[6] Chopra R. The Indian scene. J Clin Oncol 2001;19 18 Suppl: 106S-11S.

[7] Aggarwal V, Agarwal G, Lal P, Krishnani N, Mishra A, Verma AK, et al. Feasibility study of safe breast conservation in large and locally advanced cancers with use of radiopaque markers to mark pre-neoadjuvant chemotherapy tumor margins. World J Surg 2008;32:2562-9.

[8] Murthy NS, Agarwal UK, Chaudhry K, Saxena S. A study on time trends in incidence of breast cancer – Indian scenario. Eur J Cancer Care (Engl) 2007;16:185-6.

[9] de Waard F. Breast cancer incidence and nutritional status with particular reference to body weight and height. Cancer Res 1975;35:3351-6.

[10] Gajalakshmi CK, Shanta V. Risk factors for female breast cancer. A hospital-based case-control study in Madras, India. Acta Oncol 1991;30:569-74.

[11] Jussawalla DJ, Yeole BB, Natekar MV. Histological and epidemiological features of breast cancer in different religious groups in greater Bombay. J Surg Oncol 1981;18:269-79.

[12] Jussawalla DJ, Jain DK. Breast cancer and religion in greater Bombay women: An epidemiological study of 2130 women over a 9-year period. Br J Cancer 1977;36 Suppl 5:634-8.

[13] Jussawalla DJ, Yeole BB, Natekar MV, Narayan RA. Epidemiology of breast cancer in India. Indian J Cancer 1975;12:231-42.

[14] Rao DN, Ganesh B. Estimate of cancer incidence in India in 1991. Indian J Cancer 1998;35 Suppl 1:10-8.

[15] Rao DN, Ganesh B, Desai PB. Role of reproductive factors in breast cancer in a low-risk area: A case-control study. Br J Cancer 1994;70:129-32.

[16] Rao DN, Dinshaw KA. Epidemiological Review: In Risk Factors and Survival Rates. Mumbai: Hospital Cancer Registry, Division of Epidemiology and Biostatistics, Tata Memorial Hospital; 1999. p. 1-7.

[17] Anderson DE. Some characteristics of familial breast cancer. Cancer 1971;28 Suppl 6:1500-4.

[18] Saxena S, Rekhi B, Bansal A, Bagga A, Chintamani, Murthy NS, et al. Clinico-morphological patterns of breast cancer including family history in a New Delhi hospital, India – a cross-sectional study. World J Surg Oncol 2005;3:67.

[19] Valarmathi MT, A A, Deo SS, Shukla NK, Das SN. BRCA1 germline mutations in Indian familial breast cancer. Hum Mutat 2003;21:98-9.

[20] Kumar BV, Lakhotia S, Ankathil R, Madhavan J, Jayaprakash PG, Nair MK, et al. Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families. Cancer Biol Ther 2002;1:18-21.

[21] Rajkumar T, Soumittra N, Nancy NK, Swaminathan R, Sridevi V, Shanta V, et al. BRCA1, BRCA2 and CHEK2 (1100 del C) germline mutations in hereditary breast and ovarian cancer families in South India. Asian Pac J Cancer Prev 2003;4:203-8.

[22] Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, et al. Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Res Treat 2004;88:177-86.

[23] Tercyak KP, Peshkin BN, Brogan BM, DeMarco T, Pennanen MF, Willey SC, et al. Quality of life after contralateral prophylactic mastectomy in newly diagnosed high-risk breast cancer patients who underwent BRCA1/2 gene testing. J Clin Oncol 2007;25:285-91.

[24] Valarmathi MT, Sawhney M, Deo SS, Shukla NK, Das SN. Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families. Hum Mutat 2004;23:205.

[25] Genetic/Familial High-Risk Assessment: Breast and Ovarian. NCCN Guidelines version 1; 2011. Available from: http://www.nccn.org.

[26] Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T, et al. Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiol Biomarkers Prev 2005;14:1003-7.

[27] Wevers MR, Ausems MG, Verhoef S, Bleiker EM, Hahn DE, Hogervorst FB, et al. Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial. BMC Cancer 2011;11:6.

[28] Frost MH, Slezak JM, Tran NV, Williams CI, Johnson JL, Woods JE, et al. Satisfaction after contralateral prophylactic mastectomy: The significance of mastectomy type, reconstructive complications, and body appearance. J Clin Oncol 2005;23:7849-56.

[29] Carey LA, Sharpless NE. PARP and cancer – if it's broke, don't fix it. N Engl J Med 2011;364:277-9.

[30] Gartner EM, Burger AM, Lorusso PM. Poly (adp-ribose) polymerase inhibitors: A novel drug class with a promising future. Cancer J 2010;16:83-90.

[31] Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Kwan E, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet 2001;68:700-10.

[32] ACOG. The American Congress of Obstetricians and Gynecologists. Washington, DC: American Congress of Obstetricians and Gynecologists. Available from: http://www.acog.org/from_home/proxy/. [Last accessed on 2010 Sep 20].

[33] Narod SA, Foulkes WD. BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 2004;4:665-76.

[34] Jatoi I, Anderson WF. Management of women who have a genetic predisposition for breast cancer. Surg Clin North Am 2008;88:845-61, vii-viii.

[35] Parikh PM, Gupta S, Parikh B, Smruti BK, Issrani J, Topiwala S, et al. Management of primary and metastatic triple negative breast cancer: Perceptions of oncologists from India. Indian J Cancer 2011;48:158-64.

Practical consensus recommendation on when to do BRCA testing

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