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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

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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.

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Acknowledgments

The authors wish to acknowledge the contribution of our colleagues at Institute of Medical Genetics and Genomics and other lab mates, and colleagues from other institutions for referring cases to us. Our sincere thanks to all the patients and their families for their kind support.

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Authors and Affiliations

  1. Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, 110 060, India

    Pratibha Bhai, Samarth Kulshrestha, Ratna D. Puri, Sunita Bijarnia Mahay, Renu Saxena & Ishwar Chander Verma

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  1. Pratibha Bhai
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  2. Samarth Kulshrestha
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  3. Ratna D. Puri
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  4. Sunita Bijarnia Mahay
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  5. Renu Saxena
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  6. Ishwar Chander Verma
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Corresponding author

Correspondence to Pratibha Bhai.

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Conflict of interest

PB, SK, RDP, SBM, RS, and ICV declare that they have no conflict of interest. 

Ethics statement

The study was performed conforming to the Helsinki declaration of 1975, as revised in 2000 and 2008 concerning human and animal rights, and the authors followed the policy concerning informed consent as shown on Springer.com. No ethical clearance was required in the study as the molecular tests were carried after obtaining informed consent out as per standard of care for diagnostic purpose.

Informed consent

Informed consents were obtained from all families for the genetic tests.

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The authors are solely responsible for the data and the contents of the paper. In no way, the Honorary Editor-in-Chief, Editorial Board Members, the Indian Society of Gastroenterology, or the printer/publishers are responsible for the results/findings and content of this article.

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Bhai, P., Kulshrestha, S., Puri, R.D. et al. 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. Indian J Gastroenterol 39, 599–607 (2020). https://doi.org/10.1007/s12664-020-01096-x

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