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Related Concept Videos

Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations01:39

Mutations

Overview
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Cancers Originate from Somatic Mutations in a Single Cell02:21

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
Tumor Progression02:07

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...

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Comparative Lesions Analysis Through a Targeted Sequencing Approach
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[Novel mutation in a patient with Carney complex].

Csaba Halászlaki1, István Takács, Attila Patócs

  • 1Semmelweis Egyetem, Általános Orvostudományi Kar, I. Belgyógyászati Klinika, Budapest. drhalaszlaki@gmail.com

Orvosi Hetilap
|May 5, 2011
PubMed
Summary

Carney complex, a rare genetic disorder, is linked to protein kinase A mutations. Genetic testing is crucial for diagnosing this condition and monitoring patients for new symptoms.

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Area of Science:

  • Genetics
  • Endocrinology
  • Oncology

Background:

  • Carney complex is a rare autosomal dominant disorder.
  • It is primarily caused by inactivating mutations in the regulatory subunit of protein kinase A.
  • Associated conditions include atrial myxomas, skin lesions, breast tumors, and endocrine overactivity, notably primary pigmented nodular adrenocortical disease.

Observation:

  • A 53-year-old female patient with a history of atrial myxomas, thyroid tumor, breast cancer, and Cushing's syndrome due to adrenal adenoma was studied.
  • Genetic analysis identified an inactivating mutation (ivs2-1G>A splice mutation in intron 2) in the regulatory subunit of protein kinase A.
  • Her heterozygous twins were screened, revealing the same mutation in one twin.

Findings:

  • The study identified a specific mutation in the regulatory subunit of protein kinase A in a patient with Carney complex.
  • Genetic confirmation of the mutation was achieved.
  • One of the patient's heterozygous twins also carried the identical mutation.

Implications:

  • Genetic confirmation of Carney complex is vital for patient management.
  • Early diagnosis facilitates close monitoring for potential new manifestations of the disease.
  • While no specific treatment exists, genetic screening aids in proactive patient care and understanding disease progression.