Genome wide copy number variation and mutation detection in gallbladder carcinoma patients a study from north india

Abstract

Carcinoma of the gallbladder (GBC) is a highly fatal malignancy and newlinerelatively rare as compare to other cancers which ranks sixth most common form of newlinegastrointestinal tract malignancy. Wide geographical variability, lack of symptoms newlinedue to silent progression at initial stage and limited understanding of its etiology are newlinethe main causes of its unfavorable prognosis. GBC affects females 2 6 times more newlinefrequently as compare to males. But North Indian females have one of the highest newlineoccurrences of GBC in the world. Even after 3 decades of its discovery gallbladder newlinecancer still remains the major challenge with respect to its epidemiological newlineforecasting and treatment management. newline Gallbladder cancer is a heterogeneous disease with multiple environmental newlineetiologies and aberrant pathways of carcinogenesis. The distinctive combination of newlinepredisposing factors like geographic distribution, female gender bias, genetic newlinepredisposition, chronic inflammation and congenital developmental abnormalities newlinemake this cancer unique. The mechanism of how these risk factors contribute to the newlinemolecular basis of the disease is crucial in order to understand the underling biology newlineof this unusual cancer. The potential for understanding the general pathogenesis of newlinegallbladder cancer may also lie within its atypical etiology. newlineHowever, precise molecular sub-classifications as well as a full landscape of newlineoncogenic mutations have not been defined yet in gallbladder cancer. The wide newlineethnic, geographical, and cultural distinctions in the incidence of gallbladder newlinecarcinoma are suggestive of major genetic and environmental influences on the newlinepathogenesis of the disease. In comparison with the other tumors of the newlinegastrointestinal tract; the molecular genetic alterations occurring in gallbladder newlinecarcinomas have not been well defined. Actually, most of studies have been carried newlineout in samples from mixed biliary tract cancers with varied percentages of GBC. newlineThe extremely poor treatment outcomes of GBC are directly linked to newlinedelayed diagnosis where there are