How to recognise the early signs of Thyroid Cancer

Thyroid cancer

is a type of

cancer

that develops in the thyroid gland, a small butterfly-shaped gland located in the neck. While environmental factors such as exposure to radiation and certain chemicals have been associated with thyroid cancer, genetic factors, and family history also play a crucial role in determining an individual's susceptibility to the disease.
Delving deeper into the intricate world of thyroid cancer genetics reveals a complex interplay between specific mutations, family history, and environmental factors.

While the previous discussion touched on the broad aspects, this exploration aims to provide a more detailed understanding of the genetic nuances and their impact on thyroid cancer susceptibility.
Specific mutations and their impact
Medullary Thyroid Carcinoma (MTC):

In over 80% of familial MTC cases, inherited mutations in the rearranged during transfection (RET) proto-oncogene are the culprit, contributing to 5-10% of sporadic cases as well. The activation of RET leads to uncontrolled cell growth, resulting in a higher risk of developing aggressive forms of cancer. For families with a history of familial medullary thyroid cancer (FMTC), genetic testing for RET mutations becomes a crucial tool for early detection and personalized risk assessment.

Papillary Thyroid Carcinoma (PTC):
While PTC is often associated with acquired mutations in genes like BRAF, RAS, and PTEN, family history can still play a role in susceptibility. The genetic landscape of PTC suggests the existence of unidentified variants or shared environmental exposures within families. Ongoing research aims to uncover these factors and their contribution to PTC development.
Genetic susceptibility:
Beyond specific mutations causing cancer, certain DNA variations increase susceptibility to environmental triggers. Polymorphisms in genes related to DNA repair, cell signaling, and thyroid hormone metabolism can enhance the risk of thyroid cancer. Ongoing research endeavours are dedicated to identifying and understanding these variations to enhance risk prediction and preventive strategies.

Family History and Risk Stratification:
Having a first-degree relative with thyroid cancer doubles or triples an individual's risk, with an even higher risk associated with a positive family history of MTC or MEN syndromes. Early detection and close monitoring become paramount for individuals with an elevated risk due to family history. Genetic testing, tailored to family history and specific circumstances, can identify mutations in MTC cases, guiding targeted surveillance and preventive measures.
Beyond Genetics: Environment and Lifestyle
The intricate dance between genetics, environment, and lifestyle in thyroid cancer risk becomes apparent when considering factors like radiation exposure, iodine intake, and lifestyle choices. Environmental factors can interact with genetic susceptibility, influencing the overall risk profile. A comprehensive approach that integrates genetics, environmental factors, and lifestyle choices is essential for a holistic understanding and management of thyroid cancer risk.
Understanding the interplay between genetic factors and family history is crucial in assessing an individual's susceptibility to thyroid cancer. While genetic mutations contribute to the risk, a family history of thyroid cancer can further elevate the likelihood of developing the disease. Genetic counseling and early screening for individuals with a family history of thyroid cancer can aid in early detection and proactive management, thereby improving outcomes for those at an increased risk.
By: Dr. Minish Jain Director Medical Oncology Ruby Hall Clinic, Pune