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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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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.
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Clinical Implications for Germline PTEN Spectrum Disorders.

Joanne Ngeow1, Kaitlin Sesock2, Charis Eng3

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PTEN hamartoma tumor syndrome (PHTS) increases cancer risks and neurodevelopmental disorders. Gene-directed surveillance and management can benefit affected individuals and spare unaffected family members unnecessary tests.

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Area of Science:

  • Genetics and Oncology
  • Clinical Genetics
  • Cancer Predisposition Syndromes

Background:

  • PTEN hamartoma tumor syndrome (PHTS) is a genetic disorder associated with various benign and malignant conditions.
  • Individuals with PHTS face elevated lifetime risks for multiple cancers, including breast, endometrial, thyroid, renal, and colon.
  • Neurodevelopmental disorders, such as autism spectrum disorder, are also linked to PHTS.

Purpose of the Study:

  • To outline the diverse clinical manifestations of PHTS.
  • To emphasize the importance of gene-directed surveillance and management strategies for PHTS.
  • To highlight the potential for identifying non-cancerous manifestations with ongoing research.

Main Methods:

  • Review of clinical features and genetic associations in PHTS patients.
  • Analysis of cancer risks and associated comorbidities.
  • Longitudinal follow-up of affected and unaffected individuals within families.

Main Results:

  • PHTS presents with a wide spectrum of benign and malignant phenotypes.
  • Increased risks for breast, endometrial, thyroid, renal, and colon cancers are confirmed.
  • Neurodevelopmental disorders, including autism spectrum disorder, are significant non-cancerous manifestations.

Conclusions:

  • Gene-directed surveillance and management are crucial for PHTS patients.
  • Targeted approaches can prevent unnecessary investigations in unaffected family members.
  • Further longitudinal studies are expected to reveal additional metabolic, immunologic, and neurologic features of PHTS.