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Area of Science:

  • Genetics
  • Oncology
  • Clinical Diagnostics

Background:

  • PTEN-associated syndromes like Cowden syndrome (CS) are linked to increased cancer risk.
  • Diagnosis of CS has historically relied on phenotypic criteria, which may not fully capture individuals with PTEN pathogenic variants (PVs).
  • Previous risk calculations for PTEN PVs may be inaccurate due to reliance on clinically diagnosed CS cohorts.

Purpose of the Study:

  • To accurately quantify the cancer risks associated with PTEN PVs in a large, unselected population.
  • To assess the relationship between PTEN PVs and various cancer types.
  • To evaluate the impact of age on the detection of PTEN PVs.

Main Methods:

  • Analysis of a cohort of 727,091 individuals clinically tested for hereditary cancer risk using multigene panels.
  • Application of multivariable logistic regression models to adjust for personal/family cancer history, age, sex, and ancestry.
  • Quantification of odds ratios (OR) and confidence intervals (CI) for cancer risks associated with PTEN PVs.

Main Results:

  • PTEN PVs were found in 0.027% of the study population.
  • Significant associations were observed between PTEN PVs and high risks of female breast cancer (OR 7.88), endometrial cancer (OR 13.51), thyroid cancer (OR 4.88), and colon polyposis (OR 31.60).
  • Modest evidence suggested an association with ovarian cancer risk (OR 3.77), and increasing age at diagnosis decreased the likelihood of detecting PTEN PVs.

Conclusions:

  • PTEN PVs are associated with substantially increased risks for multiple cancers.
  • PTEN PV carriers tend to have an earlier age of disease onset compared to non-carriers.
  • Findings support the need for tailored screening protocols, risk management, and enhanced surveillance for PTEN PV carriers to improve clinical outcomes.