Skip to main content

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.