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Table 1 Overview of the most common Hamartomatous Polyposis Syndromes
| 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 |
