Kanwal Abbas Malik, Ishrat Aziz, Amna Abid, Saadat Ali


Schizophrenia is a complex disorder of polygenic inheritance with a lifetime prevalence of 5-10%. An external study showed that the role of BRCA2 is needed for the normal neurogenesis in mice. Another recent meta-analysis showed that genetic polymorphism of BRCA2 could increase susceptibility to schizophrenia. This study conducted the possible relationship between BRCA2 polymorphisms in schizophrenic patients in participating SAARC (South Asian Association of Regional Corporation) countries (Pakistan, India, Sri Lanka, Nepal, Bhutan, Maldives, Bangladesh and Afghanistan). While conducting this review, we collected data from eight SAARC countries. We collected that articles which were published from 1997 to 2020, using PubMed, and NCBI databases to amplify data about the association of BRCA2 polymorphism to schizophrenia patients in SAARC countries. Totally 24 studies were included in this review. We have additionally reviewed fewer studies from other than SAARC countries to support the evidence concerning this issue. Major studies from each SAARC country have identified novel and pathogenic mutations in BRCA2 but have not assessed on BRCA2 polymorphism within schizophrenia patients. Yet, there is no conclusive evidence found regarding the association of BRCA2 polymorphism to schizophrenia.


BRCA2 Gene; Schizophrenia; Pakistan; India; Sri Lanka; Bhutan; Afghanistan; Maldives; Nepal; Bangladesh.

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McGrath J, Saha S, Chant D, Welham J. Schizophrenia: a concise overview of incidence, prevalence, and mortality. Epidemiol Rev 2008;30:67-76.

Mattila J, Havula E, Suominen E, Teesalu M, Surakka I, Hynynen R, et al. Mondo -Mlx mediates organismal sugar sensing through the gli-similar transcription factor sugarbabe. Cell Rep 2015;13(2):350-64.

Lichtenstein P, Bjork C, Hultman CM, Scolnick E, Sklar P, Sullivan PF. Recurrence risks for schizophrenia in a Swedish national cohort. Psychol Med 2006;36:1417-25.

Kendler KS, Diehl SR. The genetics of schizophrenia: a current, genetic-epidemiologic perspective. Schizophr Bull 1993;19:261-85.

Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry 2003;60:1187-92.

Van Os J, Kapur S. Schizophrenia. Lancet 2009;374:635-45.

Hodgson R, Wildgust HJ, Bushe CJ. Cancer and schizophrenia: is there a paradox? J Psychopharmacol 2010; 24(4):51-60.

Grinshpoon A, Barchana M, Ponizovsky A, Lipshitz I, Nahon D, Tal O, et al. Cancer in schizophrenia: is the risk higher or lower? Schizophr Res 2005;73:333-41.

Gulbinat W, Dupont A, Jablensky A, Jensen OM, Marsella A, Nakane Y, et al. Cancer incidence of schizophrenic patients. Results of record linkage studies in three countries. Br J Psychiatry Suppl 1992;75-83.

Lichtermann D, Ekelund J, Pukkala E, Tanskanen A,Lonnqvist J. Incidence of cancer among persons with schizophrenia and their relatives. Arch Gen Psychiatry 2001;58: 573-8.

Tesli M, Athanasiu L, Mattingsdal M, Kähler AK, Gustafsson O, Andreassen BK, et al. Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a Scandinavian case-control sample. Am J Med Genet 2010;153B:1276-82.

Ansari I. Mental Health Pakistan: optimizing brains. Int J Emerg Ment Health 2015; 17:288.

Aziz I, Muzahair J, Jahangir A and Qazi MH. Schizophrenia from epidemiology to molecular epidemiology. Schizophrenia Bulletin 2015;S133.

Hussain S, Imran N, Hotiana UA, Mazhar N, Asif A. Illness perceptions in patients of schizophrenia: A preliminary investigation from Lahore, Pakistan. Pak J Med Sci 2017;33(4):829-34.

Aziz I. Cannabis usage and molecular epidemiology of schizophrenia. Schizophrenia Bulletin 2015; S56.

Seeliger K, Dukowic-Schulze S, Wurz-Wildersinn R, Pacher M and Puchta H. BRCA2 is a mediator of RAD51- and DMC1- facilitated homologous recombination in Arabidopsis thaliana. New Phytologist 2012;193:364-75.

WTCCC. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007; 447(7145):661-78.

Tutt A, Ashworth A. The relationship between the roles of BRCA genes in DNA repair and cancer predisposition. Trends Mol Med 2002;8(12):571-76.

Frappart PO, Le Y, Lamont J, McKinnon P. BRCA2 is required for neurogenesis and suppression of medulloblastoma. The EMBO J 2007;26(11):2732-42.

Rashid MU, Zaidi A, Torres D, Sultan F, Benner A, Naqvi B, et al. Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer 2006;119:2832-39.

Liede A, Malik IA, Aziz Z, Rios P, Kwan E, Narod SA. Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. American J Hum Gen 2002;71(3):595-606.

Vaidyanathan K, Lakhotia S, Ravishankar HM, Tabassum U, Mukherjee G, Somasundaram K. BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation. J Biosci 2009 Sep;34(3):415-22.

Saxena S, Szabo CI, Chopin S, Barjhoux L, Sinilnikova O, Lenoir G, et al. BRCA1 and BRCA2 in Indian breast cancer patients. Hum Mutat 2002 Dec;20(6):473-4.

De Silva W, Karunanayake EH, Tennekoon KH, Allen M, Amarasinghe I, Angunawala P, et al. Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals. BMC Can 2008 Jul;29(8):214.

Parvin S, Islam MS, Al-Mamun MM, Islam MS, Ahmed MU, Kabir ER, et al. Association of BRCA1, BRCA2, RAD51, and HER2 gene polymorphisms with the breast cancer risk in the Bangladeshi population. Breast Can 2017 Mar;24(2):229-37.



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