research

FRIGE scientists initiate study on hereditary cancer

India's first systematic epidemiological study on the genetic contribution behind common cancers begins.

Lynch syndrome is a genetic condition that leads to up to 80% lifetime risk of developing cancer. People with Lynch syndrome often get cancer before age 50 and requires lifelong cancer screenings to detect and treat cancer early.

Lynch syndrome is an autosomal dominant condition in which an individual is genetically predisposed to cancer in a variety of anatomical regions- particularly GI tract and genitourinary organs.

It is caused when the mismatch repair (MMR) pathway, one of major inherent defense mechanism against DNA errors introduced into our genome, stops working.

Identifying Lynch syndrome patients early on can be beneficial since there are several cancer screening and prevention strategies which can be used to reduce risk of developing cancer by half.

At this moment, we know very little about pan-cancer prevalence of Lynch syndrome and age-specific risk of cancers in the Indian population. It is astounding that Lynch syndrome can affect risk of cancers of oesophagous, stomach, liver, pancreas, small intestine and endometrium- which collectively is found in approximately 1 in every 8 patients seen in cancer clinics across India. Furthermore, it is remarkable considering that according to the WHO, nearly 1 in 300 people are estimated be Lynch syndrome carriers.

Considering the significant burden of this disease and opportunities to prevent cancers in these patients, the team at FRIGE lead by Dr. Harsh Sheth attracted funding to systematically study the prevalence of Lynch syndrome in cancers of oesophagous, stomach, liver, pancreas, small intestine and endometrium.

Study details covered in the Times of India on 18th March 2024.

Together with doctors from all corners of India, especially- Dr Jayesh Sheth, Dr. Pankaj Shah, Dr. Mithun Shah, Dr. Abhinav Jain, Dr. Bhawna Sirohi, Prof. Suresh Advani, Dr. Asima Mukhopadhyay, Dr. Anu RI and Dr. Frenny Sheth- the study will recruit 300 patients with cancer and study the DNA of the cancer and blood to identify patients and their relatives with Lynch syndrome.

The study through its unique design will also collect data on patient’s lifestyle, diet and exercise, and will subsequently follow the patients for three years to see which factors contribute to the risk of cancer.

This would provide a tremendous opportunity to clinicians and genetic counsellors to offer personalised cancer surveillance and cancer risk reducing interventions to Lynch syndrome carriers of Indian origin.

Study details covered in the Gujarat Samachar on 21st March 2024.

The investigators through this study will provide the most comprehensive insight into the epidemiology and risk factors that contribute to cancer development in Lynch syndrome patients from India.

The study is funded by the Gujarat State Biotechnology Mission, Government of Gujarat.

If you would like to participate in the study or want to know more, you can contact us here.

Publications

Lavingya V, Sardana S, Khanderia MH, Bisht N, Patel A, Koyyala VPB, Sheth H, Ramaswamy A, Singh A, DeSouza A, Jain SB, Mahajan M, Gohel S, Parikh A, Brown G, Sirohi B (2024). Localized rectal cancer: Indian consensus and guidelines. Indian Journal of Medical and Pediatric Oncology. DOI: https://doi.org/10.1055/s-0043-1777865
Dominguez-Valentin, M., Haupt, S., Seppälä, T.T., Sampson, J.R., Sunde, L., Bernstein, I., Jenkins, M.A., Engel, C., Aretz, S., Nielsen, M., Capella, G., Balaguer, F., Evans, D.G., Burn, J., Holinski-Feder, E., Bertario, L., Bonanni, B., Lindblom, A., Levi, Z., Macrae, F., Winship, I., Plazzer, J.-P., Sijmons, R., Laghi, L., Della Valle, A., Heinimann, K., Dębniak, T., Fruscio, R., Lopez-Koestner, F., Alvarez-Valenzuela, K., Katz, L.H., Laish, I., Vainer, E., Vaccaro, C., Carraro, D.M., Monahan, K., Half, E., Stakelum, A., Winter, D., Kennelly, R., Gluck, N., Sheth, H., Abu-Freha, N., Greenblatt, M., Rossi, B.M., Bohorquez, M., Cavestro, G.M., Lino-Silva, L.S., Horisberger, K., Tibiletti, M.G., Nascimento, I. do, Thomas, H., Rossi, N.T., Apolinário da Silva, L., Zaránd, A., Ruiz-Bañobre, J., Heuveline, V., Mecklin, J.-P., Pylvänäinen, K., Renkonen-Sinisalo, L., Lepistö, A., Peltomäki, P., Therkildsen, C., Madsen, M.G., Burgdorf, S.K., Hopper, J.L., Win, A.K., Haile, R.W., Lindor, N., Gallinger, S., Le Marchand, L., Newcomb, P.A., Figueiredo, J., Buchanan, D.D., Thibodeau, S.N., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schröck, E., Steinke-Lange, V., Schmiegel, W., Vangala, D., Perne, C., Hüneburg, R., Redler, S., Büttner, R., Weitz, J., Pineda, M., Duenas, N., Vidal, J.B., Moreira, L., Sánchez, A., Hovig, E., Nakken, S., Green, K., Lalloo, F., Hill, J., Crosbie, E., Mints, M., Goldberg, Y., Tjandra, D., ten Broeke, S.W., Kariv, R., Rosner, G., Advani, S.H., Thomas, L., Shah, P., Shah, M., Neffa, F., Esperon, P., Pavicic, W., Torrezan, G.T., Bassaneze, T., Martin, C.A., Moslein, G., Moller, P., n.d. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. eClinicalMedicine. https://doi.org/10.1016/j.eclinm.2023.101909
Mathers J, Elliott F, Macrae F, Mecklin JP, Möslein G, McRonald F, Bertario L, Evans DG, Gerdes AM, Ho J, Lindblom A, Morrison P, Rashbass J, Ramesar R, Seppälä T, Thomas H, Sheth H, Pylvänäinen K,, Reed L, Borthwick G, Bishop DT, Burn J (2022). Cancer prevention with resistant starch in Lynch syndrome patients in the CAPP2 randomised placebo controlled trial: planned 10 year follow-up. Cancer Prevention Research. DOI: https://doi.org/10.1158/1940-6207.CAPR-22-0044
Burn J, Sheth H, Elliot F, Reed L, Macrae F, Mecklin JP, Moeslein G, McRonald F, Bertario L, Evans G, Gerdes AM, Ho JWC, Lindblom A, Morrison PJ, Rashbass J, Ramesar R, Seppala T, Thomas HJW, Pylvanainen K, Borthwick GM, Mathers JC, Bishop DT, on behalf of the CAPP2 investigators (2020). Double blind randomised placebo controlled trial of cancer prevention with aspirin in hereditary colorectal cancer (Lynch Syndrome): Planned 10 year follow-up and registry based 20 year data in the CAPP2 study. The Lancet. DOI: 10.1016/S0140-6737(20)30366-4

Footnotes

https://www.cdc.gov/genomics/disease/colorectal_cancer/lynch.htm

FRIGE scientists initiate study on hereditary cancer

S﻿tudy details covered in the Times of India on 18th March 2024.

S﻿tudy details covered in the Gujarat Samachar on 21st March 2024.

Study details covered in the Times of India on 18th March 2024.

Study details covered in the Gujarat Samachar on 21st March 2024.