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Table 1 Overview of the most common Hamartomatous Polyposis Syndromes

From: Hamartomatous polyposis syndromes: A review

  Genes Hallmark features Cancer by site Approx. mutation detection rate (%)
Juvenile polyposis syndrome SMAD4, BMPR1A Multiple GI-polyps, epistaxis,* telangiectasia* Colon, rectum and stomach 60% [2]
PTEN-hamartoma syndrome: Cowden Syndrome PTEN Lhermitte-Duclos disease, trichilemmoma, skin hamartoma, macrocephaly, Breast, thyroid, uterus, colon Up to 80% [6]
PTEN-hamartoma syndrome: Bannayan-Riley-Ruvalcaba PTEN Macrocephaly, lipomatosis, pigmented macules of the glans penis As above 60% [7]
Peutz-Jeghers syndrome STK11 (LKB1) Mucocutanous melanosis and polyposis of the GI-tract Colon, stomach, breast, pancreas (cervix, ovarian) 80%-94% [8]
Hereditary mixed polyposis syndrome (BMPR1A, GREM1) Atypical polyposis with juvenile polyps, adenomas, hyperplastic and inflammatory Colon and rectum Unknown
  1. *In SMAD4 mutation carriers.