Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

Ayesha Farooq,Tausif Ahmad,Zahid Azeem,Abdul Khaliq Naveed

doi:10.1155/2011/632870

Ayesha Farooq, Tausif Ahmad + Show 2 more

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https://doi.org/10.1155/2011/632870

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Abstract

Introduction. Pakistani population has a very rich anthrogeneological background with waves of migration from neighboring regions. Incidence rates of breast and ovarian cancer in Pakistan are on such a rapid rise that it is necessary to check the contributory factors, genetic and nongenetic. An insight into the prevalence data emphasizes the formulation of a BRCA1 and BRCA2 database for the Pakistani population. Method. In this study conducted by authors, data from diagnosed cases of both sporadic and inherited female breast and ovarian cancer cases was gathered after performing molecular genetic analysis by screening for alterations in the coding sequence of the BRCA gene. The region of interest was analyzed by the aid of various molecular biology tools such as automated DNA sequencer. Bioinformatics software was used to interpret the results, and database was prepared. Results. Mutational screening of the exons in all the samples of our study group did not reveal any pathogenic mutation. These results along with the results of the previous Pakistani studies for both BRCA1 and BRCA2 genes were summed up to prepare a Pakistani database. Percentage involvement of these genes was estimated. Nine percent of these cancers show alterations in BRCA1 gene while 3 percent have shown BRCA2 variants. The remaining 88 percent of breast and ovarian cancers can be attributed to the involvement of other genes.

Highlights

Pakistani population has a very rich anthrogeneological background with waves of migration from neighboring regions
This study focused on mutational screening of breast cancer susceptibility gene 1 (BRCA1) gene in diagnosed cases of both hereditary and sporadic breast and ovarian cancer
The chromatograms of BRCA1 gene from affected patients (Figure 1) after mutational screening of the exons in all the samples of our study group revealed no pathogenic sequence variant correlating with breast or ovarian cancer pathogenesis

Summary

Introduction

Pakistani population has a very rich anthrogeneological background with waves of migration from neighboring regions. Mutational screening of the exons in all the samples of our study group did not reveal any pathogenic mutation These results along with the results of the previous Pakistani studies for both BRCA1 and BRCA2 genes were summed up to prepare a Pakistani database. Inherited mutations in the breast cancer susceptibility gene 1 (BRCA1) [MIM 113705] and breast cancer susceptibility gene 2 (BRCA2) [MIM 600185] are associated with a high risk of developing breast and ovarian cancers in females of different age and ethnic groups. The spectrum of mutations in these genes varies between populations, with some showing a high frequency of unique mutations [8] Many such alterations may be recurrent, often being identified in isolated populations as the results of a founder effect [5] and may be the basis of differences in cancer risk between populations [9]. Ashkenazi Jewish, Norwegian, Dutch, and Icelandic people have a higher rate of certain genetic alterations in BRCA1 [10]

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