|
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
|
