Familial cancer syndrome is a genetic condition that increases the risk of various cancers in related family members. Hereditary cancer disorders are caused by mutations in certain genes passed down from parents to offspring, and certain cancer patterns can be found in families with hereditary cancer syndrome.

This could be due to other causes like the fact that family members share certain activities or exposures that raise cancer risk, such as smoking. Rarely, factors that run in families, such as obesity, may also increase cancer risk.

The common cancers and associated syndromes:

Hereditary Breast and Ovarian Cancer (HBOC) syndrome: tumors are commonly found in women younger than the average age and are caused by a hereditary mutation in either the BRCA1 or BRCA2 gene.

Lynch syndrome: also known as hereditary non-polyposis colorectal cancer, is the most common genetic syndrome that raises a person's risk of colon cancer in those under the age of 50.

Li-Fraumeni syndrome: a rare genetic disease that causes a variety of malignancies in individuals in their twenties and thirties, including sarcoma, leukemia, brain tumors, adrenal cortex cancer, and breast cancer.

Genetic counseling and testing: People with a strong family history of cancer may be interested in learning more about their genetic composition. Since hereditary mutations impact all cells in a person's body, genetic testing on blood or saliva samples is frequently used to detect them.

Germline mutation

Any observable alteration within germ cells is referred to as a germline/germinal mutation. When a mutant sperm or oocyte combine to form a zygote, the only mutations that can be passed on to progeny are those in these cells.

Individuals with mutations in tumor suppressor genes or proto-oncogenes are more likely to develop tumors. About 5-10% of all cancers are inherited through defective inherited genetic alterations.

Because the protein produced inhibits tumors, those who inherit germline mutations in TP53 are prone to specific cancer types. Breast and ovarian cancer as well as hereditary non-polyposis colorectal cancer, are two further examples.

Indias stance on family cancer syndrome

According to the WHO and the American Cancer Society, cancer kills one out of every six people on the planet, more than HIV/AIDS, TB, and malaria combined.

Are these genetic tests available in India?

Yes, these genetic tests are now accessible in India and require only a simple blood test (Multi-gene panel testing).

Who must undergo these tests?

Strong family history of Cancers like Breast cancer, Ovarian cancer, Colon cancer etc. happening in multiple family members and or many generations needs to get tested.

When cancer happens at an early age say <30 years, needs to be tested again.

There are other situations where one needs to get tested for which they can consult their Oncologist or physician.

What preventive strategies are available?

Those who test positive for these syndromes have a few cancer prevention options like preventive surgeries, tablets, and also aggressive cancer screening programs to detect cancers at early stages and treat them effectively.

This data can help clinicians make better clinical management decisions. Furthermore, mutations in particular genes boost therapeutic response, contributing to precision/personalized medicine, in which patients are treated depending on their mutations.

Given the numerous benefits of detecting genetic differences in hereditary malignancies, the medical community has been working to make genetic testing more affordable and accessible to the general people, allowing for faster disease diagnosis, management, and treatment.

-The author Dr. Vivek Belathur is MD, DM, ECMO, Senior Consultant Medical Oncology at Fortis Hospitals, Bannerghatta Road. The views expressed are personal.

(Edited by : Priyanka Deshpande)

First Published:Apr 07, 2022, 08:42 PM IST

Read the original:
World Health Day | Family Cancer Syndrome: What genes tell us about the risk of developing cancer - CNBCTV18

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