SCIENTIFIC BACKGROUND

RET

Category:

Scientific Background

Thyroid cancer is the most common malignancy of the endocrine system and starts from the cells in the thyroid gland. According to WHO, in 2020, thyroid cancer was the 9th most common type of cancer in both men and women worldwide. There are three types of thyroid cancer, differentiated, medullary, and anaplastic. Hereditary conditions such as Multiple endocrine neoplasia type 2 and family history have also been associated with an increased risk of developing different types of thyroid cancer.

 

PreSENTIA hereditary Thyroid cancer panel tests for numerous germline mutations that could cause thyroid cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

 

Who is this test for?

You should get tested if you meet at least one of the criteria below:

•  You have a personal history of thyroid cancer

•  You have a first degree relative with thyroid cancer

•  You have a personal or family history of a hereditary cancer syndrome related to thyroid cancer

•  You have a family member that has been diagnosed with a germline mutation associated with cancer susceptibility

 

How many genes are tested in this panel?

1 gene

 

How many hereditary cancer syndromes are associated with this panel?

1 Hereditary cancer syndrome is associated with this panel. This is:

Multiple endocrine neoplasia type 2 (RET)

 

Recommendations by professional bodies

“Germline testing for RET proto-oncogene mutations with genetic counseling by a physician or genetic counselor is recommended for all patients with newly diagnosed medullary thyroid cancer (MTC), including patients with clinically suspected sporadic MTC” (NCCN, 2022)

 

“If a germline RET mutation is found, then mutation testing should also be done for family members” (NCCN, 2022)

 

References and more information: 

The above information was taken by professional bodies such as American Cancer Society

•  Elisei R, Alevizaki M, Conte-Devolx B, et al.2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer. Eur Thyroid J 2013;1:216–231.

•  Haddad RI, Bischoff L, Ball D, Bernet V, Blomain E, Busaidy NL, Campbell M, Dickson P, Duh QY, Ehya H, Goldner WS, Guo T, Haymart M, Holt S, Hunt JP, Iagaru A, Kandeel F, Lamonica DM, Mandel S, Markovina S, McIver B, Raeburn CD, •  Rezaee R, Ridge JA, Roth MY, Scheri RP, Shah JP, Sipos JA, Sippel R, Sturgeon C, Wang TN, Wirth LJ, Wong RJ, Yeh M, Cassara CJ, Darlow S. Thyroid Carcinoma, Version 2.2022, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2022 Aug;20(8):925-951. doi: 10.6004/jnccn.2022.0040. PMID: 35948029.

GENES

RET
How to order

LATEST ARTICLES

Cancer is a group of genetic diseases that can develop almost anywhere in the body. Many people in the world are affected by cancer every year. Follo...

Read more

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first...

Read more

Cancer is a complex genetic disease that affects millions of people in the world. It is one of the leading causes of death worldwide, with about ten ...

Read more

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the...

Read more

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized the...

Read more

In honor of the international day of women and girls in science, we interviewed one of our very own, Dr. Evelina Papaioannou. Dr. Evelina Pa...

Read more

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are ...

Read more

Here you can read the winning essays from the first, annual DNA essay competition on the subject of "How unfolding the DNA code can help with precisi...

Read more

Introduction Our voices are as unique as our fingerprints! Although there are people whose voices might sound alike, there are no two voices exact...

Read more

Not everyone likes winter. For people who do not enjoy the cold weather, or having to put on a thick coat to go outside, a winter can be a source of ...

Read more