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Copyright ©The Author(s) 2023.
World J Gastroenterol. Feb 28, 2023; 29(8): 1304-1314
Published online Feb 28, 2023. doi: 10.3748/wjg.v29.i8.1304
Table 4 Studies investigating the malignancy risk associated with phosphatase and tensin homolog mutation
Ref.
N
Location
Outcome
Tan et al[87]3399North America, Europe, and AsiaPatient with PTEN mutations possess a lifetime breast cancer risk of 85%, thyroid cancer risk of 35%, renal cell carcinoma of 35%, endometrial cancer risk of 28%, colorectal cancer risk of 9%, and melanoma risk of 6%
Fackenthal et al[88]2United StatesThere is an increased risk of male breast cancer in patient with PTEN mutations and CS
Harach et al[89]11ArgentinaPatients with CS have increased likelihood of developing benign thyroid lesions, with increased risk of malignant transformation
Ngeow et al[90]2723United StatesCS and CS-like phenotypes possess standardized incidence rate for thyroid cancer of 72%, particularly follicular thyroid cancer
Heald et al[91]127North America and EuropePTEN mutations are associated with early-onset (age < 50) colorectal malignancy; routine colonoscopy should be encouraged