Catenin family genes are not commonly mutated in hereditary diffuse gastric cancer.
BACKGROUND
Approximately one third of the hereditary diffuse gastric cancer (HDGC) families carry germline mutations in the E-cadherin gene (CDH1). Risk prediction in members of families with this rare but deadly cancer could be improved by the identification of additional HDGC genes in non-CDH1 families.


METHODS
Affected individuals from 22 CDH1 mutation-negative families were screened for germline mutations in four catenin genes: CTNNA1, CTNNB1, JUP, and CTNND1. Catenins interact closely with E-cadherin molecules in cells, and are therefore logical candidate genes for mutation screening in HDGC families.


RESULTS
No nonsynonymous variants were seen in CTNNA1, CTNNB1, or CTNND1; only JUP contained nonsynonymous variants, of which only two rare variants were predicted to be deleterious.


CONCLUSIONS
Catenin genes are not commonly mutated in non-CDH1 HDGC families.


CONCLUSIONS
Germline mutations in CTNNA1, CTNNB1, JUP, or CTNND1 are unlikely to play a major role in HDGC.
Canada's Michael Smith Genome Sciences Centre, British Columbia Cancer Agency, Vancouver, Canada.
Johanna M
JM
Schuetz
Stephen
S
Leach
Pardeep
P
Kaurah
Jennifer
J
Jeyes
Yaron
Y
Butterfield
David
D
Huntsman
Angela R
AR
Brooks-Wilson
D051177:Catenins / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D013274:Stomach Neoplasms / Q000235:genetics* / Q000473:pathology; D051178:alpha Catenin / Q000235:genetics; D051176:beta Catenin / Q000235:genetics; D051185:gamma Catenin; D000095002:Delta Catenin
C495273:CTNNA1 protein, human; C495270:CTNNB1 protein, human; D051177:Catenins; D051180:Desmoplakins; C495292:JUP protein, human; D051178:alpha Catenin; D051176:beta Catenin; D051185:gamma Catenin; D000095002:Delta Catenin