Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26675496
.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Gastrointest+Tumors
2014 ; 1
(2
): 93-8
Nephropedia Template TP
gab.com Text
Twit Text FOAVip
Twit Text #
English Wikipedia
Hereditary Factors in Esophageal Adenocarcinoma
#MMPMID26675496
van Nistelrooij AM
; Dinjens WN
; Wagner A
; Spaander MC
; van Lanschot JJ
; Wijnhoven BP
Gastrointest Tumors
2014[Jun]; 1
(2
): 93-8
PMID26675496
show ga
BACKGROUND: The vast majority of Barrett's esophagus (BE) and esophageal
adenocarcinoma (EAC) cases are sporadic and caused by somatic mutations. However,
over the last decades several families have been identified with clustering of
EAC. Here, we review data from the published literature in order to address the
current knowledge on familial EAC. SUMMARY: Although familial EAC comprises a
relatively small group of patients, it is a clinically relevant category due to
the poor prognosis of this type of cancer. Efforts should be made to identify
specific genetic risk factors for familial EAC to enable identification of
relatives at risk, since endoscopic surveillance can diagnose preneoplastic or
early neoplastic lesions leading to early treatment, with improved outcome. KEY
MESSAGE: Although familial EAC comprises a relatively small group of patients,
this is a clinically relevant category due to the poor prognosis. Efforts should
be made to identify specific genetic risk factors for familial EAC in order to
facilitate the identification of other family members with a predisposition for
this type of cancer. PRACTICAL IMPLICATIONS: Approximately 7% of BE and EAC cases
are considered familial. Age at diagnosis is generally lower for patients with
familial EAC as compared to sporadic cases, while other known risk factors for
EAC, such as male gender and Caucasian ethnicity, do not differ between the two
groups. In several described families with clustering of EAC the pattern of
inheritance seems to be consistent with a rare autosomal dominant genetic trait.
However, some association has been found with (attenuated) familial adenomatous
polyposis, mismatch repair deficiency and recently with the genes MSR1, ASCC1 and
CTHRC1. Nevertheless, no specific genetic predisposition has yet been identified.