Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A
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SHORT REPORT
Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population Pratibha Bhai 1 & Samarth Kulshrestha 1 & Ratna D. Puri 1 & Sunita Bijarnia Mahay 1 & Renu Saxena 1 & Ishwar Chander Verma 1 Received: 24 March 2020 / Accepted: 14 September 2020 # Indian Society of Gastroenterology 2020
Abstract Incidence of colorectal cancer (CRC) is lower in India than in other parts of the world. Approximately 5% to 10% of CRC is inherited. Hereditary non-polyposis colorectal cancer (HNPCC) syndrome and familial adenomatous polyposis (FAP) syndrome are the two known familial cancer syndromes of gastrointestinal tract, which occur due to inherited genetic predisposition. Not much is known about the molecular profile of families with inherited CRC syndromes seen in Indian population. At our institute, we have been providing genetic testing and counseling service to all the families referred to us with suspicion of inherited cancer predisposition syndrome. We analyzed 36 suspected families at our clinic. Personal and family history of cancer was obtained from the proband and appropriate genetic testing was performed in 19 patients (13 with HNPCC, 5 with FAP, and 1 with Cowden syndrome). We present here our experience and spectrum of pathogenic variants observed in this patient cohort and review on published studies describing molecular profile of Indian patients with CRC syndromes. Keywords Cancer surveillance . Colonic polyp . Colorectal cancer . Familial adenomatous polyposis . Hereditary cancer syndrome . Hereditary non-polyposis colorectal cancer . India
Introduction Colorectal cancer (CRC) is less common in India as compared to Western countries. The age standardized incidence of CRC in India is 7.2 individuals per 100,000 males and 5.1 per 100,000 females [1, 2]. Some presenting features also differ from patients in Western countries like higher frequency of CRC diagnosed at younger age with advanced disease and the frequency of signet ring carcinoma [2–4]. Most of CRC is sporadic with about 30% estimated to have a familial component and about 5% to 10% are described to have confirmed mutations in cancer predisposition genes [5]. Major inherited Supplementary Information The online version of this article (https:// doi.org/10.1007/s12664-020-01096-x) contains supplementary material, which is available to authorized users. * Pratibha Bhai [email protected] 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India
CRC syndromes include hereditary non-polyposis colorectal cancer (HNPCC) syndrome or Lynch syndrome and familial adenomatous polyposis (FAP) syndrome. FAP is characterized by early onset of hundreds to thousands of adenomatous polyps throughout the colon and rectum with over 95% risk of developing carcinoma in one or more of the polyps. FAP is caused by germline mutation in the APC gene. HNPCC is a heterogeneous syndrome defi
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