Constitutional Mutation of : A Variant of Cowden Syndrome?

Genes (Basel)

Medical Oncology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.

Published: September 2024

AI Article Synopsis

  • Among the other affected relatives, one has ovarian cysts and thyroid issues, while the rest have multinodular goiter; a deceased sister had multiple ovarian and thyroid cancers.
  • This suggests the gene in question should be evaluated in families with similar cancer backgrounds, contributing to understanding how it relates to hereditary breast and ovarian cancer syndromes.

Article Abstract

We present a family in which four individuals have been identified with the same likely pathogenic genetic alteration in the gene at the germinal level; specifically, c.1145G>A p.(Arg382Lys) missense type. The index case patient was diagnosed with multinodular goiter and breast cancer at 61 years old. Among the other three carrier relatives: one has been diagnosed with serous cystadenoma of the ovary and a thyroid nodule with no radiological suspicion of malignancy; the other two present multinodular goiter. Additionally, a sister of three of the carriers suffered from an ovarian teratoma, follicular thyroid carcinoma on multinodular goiter, and high-grade serous ovarian carcinoma. No direct mutation study was performed on her as she had died due to ovarian carcinoma. This finding suggests that the gene should be considered in Cowden-like families when no other gene mutations have been found. Furthermore, this report contributes to characterization of the clinical phenotype caused by mutations in , which may be shared with other hereditary breast and ovarian cancer syndromes.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11431818PMC
http://dx.doi.org/10.3390/genes15091209DOI Listing

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