Abstract

Colorectal cancer (CRC) is becoming one of the most complicated challenges of human health, particularly in developing countries like Iran. In this paper, we try to characterize CRC cases diagnosed < age 50 at-risk for Lynch syndrome within central Iran. We designed a descriptive retrospective study to screen all registered CRC patients within 2000-2013 in Poursina Hakim Research Center (PHRC), a referral gastroenterology clinic in central Iran, based on being early-onset (age at diagnosis ≤50 years) and Amsterdam II criteria. We calculated frequencies and percentages by SPSS 19 software to describe clinical and family history characteristics of patients with early-onset CRC. Overall 1,659 CRC patients were included in our study of which 413 (24.9%) were ≤50 years at diagnosis. Of 219/413 successful calls 67 persons (30.6%) were reported deceased. Family history was positive for 72/219 probands (32.9%) and 53 families (24.2%) were identified as familial colorectal cancer (FCC), with a history of at-least three affected members with any type of cancer in the family, of which 85% fulfilled the Amsterdam II Criteria as hereditary non-polyposis colorectal cancer (HNPCC) families (45/219 or 20.5%). Finally, 14 families were excluded due to proband tumor tissues being unavailable or unwillingness for incorporation. The most common HNPCC-associated extracolonic- cancer among both males and females of the families was stomach, at respectively 31.8 and 32.7 percent. The most common tumor locations among the 31 probands were rectum (32.3%), sigmoid (29.0%), and ascending colon (12.9%). Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families.

Highlights

  • Colorectal cancer (CRC) is the second cause of cancerrelated mortality among adult people throughout the world (Bush and Haines, 2009; ACS, 2013)

  • I- Epidemiologic features: This study was designed to find most detectable hereditary non-polyposis colorectal cancer (HNPCC) families in Central Iran, since there is a lack of data around the issue in our population

  • It is similar to the gender structure of our population, so 51% of the population throughout the Province was male according to 2011 census

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Summary

Introduction

Colorectal cancer (CRC) is the second cause of cancerrelated mortality among adult people throughout the world (Bush and Haines, 2009; ACS, 2013). It is being converted to one of the most complicated challenges of human health, in developing countries (Bener, 2011) It seems along with westernization of life style in these countries, such as Iran, CRC will be one of the most important leading causes of cancer death among adults in the world (Pourhoseingholi et al, 2009). Inheritable genetic factors contribute in incidence of at least 35% of the new cases (Burt, 2007) and hereditary non-polyposis colorectal cancer (HNPCC) is the most common cause of hereditary CRC (Rybak and Hall, 2011). It is an autosomal dominant condition with about 70- 90% penetrance due to mutation in the mismatch repair genes (Lynch et al, 2009). Conclusions: Given the high prevalence of FCC (~1/4 of early-onset Iranian CRC patients), it is necessary to establish a comprehensive cancer genetic counseling and systematic screening program for early detection and to improve cancer prognosis among high risk families

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