Related Experiment Video

Updated: Aug 13, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Molecular biology of the MEN2 gene

M Santoro1, R M Melillo, F Carlomagno

  • 1Centro di Endocrinologia ed Oncologia Sperimentale del CNR/Dipartimento di Biologia e Patologia Cellulare e Molecolare, Università di Napoli, Naples, Italy.

Journal of Internal Medicine
|July 29, 1998
PubMed

Insights

The RET gene, when mutated, drives cancer, particularly thyroid cancer. Different RET mutations lead to distinct cancer types by activating specific signaling pathways like Shc-Ras-MAPK.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cancer arises from genetic mutations in oncogenes and tumor suppressors.
  • The RET gene, encoding a tyrosine kinase receptor, is implicated in various cancers.
  • RET mutations are known drivers in thyroid papillary carcinomas and familial endocrine neoplasia syndromes.

Purpose of the Study:

  • To elucidate the role of the RET gene in different neoplastic phenotypes.
  • To investigate the biochemical mechanisms of RET-mediated signal transduction.
  • To understand how RET mutations contribute to cancer development.

Main Methods:

  • Analysis of RET gene rearrangements and point mutations.
  • Investigation of RET signaling pathways.
  • Biochemical assays to study signal transduction.

Main Results:

  • RET gene rearrangements activate oncogenic potential in thyroid papillary carcinomas.
  • Specific point mutations in RET are linked to familial medullary thyroid carcinoma (FMTC), MEN-2A, and MEN-2B.
  • Evidence suggests RET signal transduction involves coupling to the Shc-Ras-MAPK pathway.

Conclusions:

  • The RET gene is a critical oncogene with diverse mutation-driven cancer implications.
  • Understanding RET signaling is crucial for targeted cancer therapies.
  • The Shc-Ras-MAPK pathway is a key mediator of RET's transforming and mitogenic signals.

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Related Concept Videos

Master Transcription Regulators02:23

Master Transcription Regulators

Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
The Y Chromosome Determines Maleness02:19

The Y Chromosome Determines Maleness

The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
Abnormal Proliferation02:23

Abnormal Proliferation

Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the daughter...
mTOR Signaling and Cancer Progression03:03

mTOR Signaling and Cancer Progression

The mammalian target of rapamycin or mTOR protein was discovered in 1994 due to its direct interaction with rapamycin. The protein gets its name from a yeast homolog called TOR. The mTOR protein complex in mammalian cells plays a major role in balancing anabolic processes such as the synthesis of proteins, lipids, and nucleotides and catabolic processes, such as autophagy in response to environmental cues, such as availability of nutrients and growth factors.
The mTOR pathway or the...