TY  - CHAP
M1  - Book, Section
TI  - Peutz-Jeghers Syndrome
A1  - Aaltonen, Lauri A.
A2  - Valle, David L.
A2  - Antonarakis, Stylianos
A2  - Ballabio, Andrea
A2  - Beaudet, Arthur L.
A2  - Mitchell, Grant A.
PY  - 2019
T2  - The Online Metabolic and Molecular Bases of Inherited Disease
AB  - The  typical  features  of  Peutz-Jeghers  syndrome  (PJS)  are  mucocutaneous  melanin  pigmentation  and  gastrointestinal  polyposis.Peutz-Jeghers  polyps  are  hamartomas  characterized  by  a  stromal  tree-like  pattern  of  smooth  muscle  tissue.PJS  patients  are  predisposed  to  cancer.  An  excess  of  gastrointestinal  as  well  as  extraintestinal  cancers  has  been  reported  in  PJS  families.  The  cancer  predisposition  is  less  focused  than  in  many  other  cancer-susceptibility  syndromes.The  major  predisposing  gene  is  LKB1.  LKB1  mutations  are  found  in  most  but  not  all  PJS  patients.  At  present  it  is  unclear  whether  more  predisposing  loci  exist.LKB1  is  a  serine/threonine  kinase,  and  it  has  been  proposed  to  function  as  an  upstream  regulator  of  AMP-activated  protein  kinase.  The  germ-line  mutations  associated  with  tumorigenesis  are  usually  of  an  inactivating  nature,  suggesting  a  role  as  a  tumor  suppressor.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - ommbid.mhmedical.com/content.aspx?aid=1181414612
ER  -