TY - JOUR
T1 - Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma
AU - Haque, Md Hakimul
AU - Gopalan, Vinod
AU - Chan, Kwok Wah
AU - Shiddiky, Muhammad J.A.
AU - Smith, Robert Anthony
AU - Lam, Alfred King Yin
N1 - Funding Information:
The authors would like to acknowledge the funding from higher degree research student (GUIPRS and GUPRS scholarship) from the Griffith University. The project was also supported by the project funding of Menzies Heath Institute Queensland and joint funding by Griffith University and the Gold Coast University Hospital Foundation.
PY - 2016/7/4
Y1 - 2016/7/4
N2 - Mutation of FAM134B (Family with Sequence Similarity 134, Member B) leading to loss of function of its encoded Golgi protein and has been reported induce apoptosis in neurological disorders. FAM134B mutation is still unexplored in cancer. Herein, we studied the DNA copy number variation and novel mutation sites of FAM134B in a large cohort of freshly collected oesophageal squamous cell carcinoma (ESCC) tissue samples. In ESCC tissues, 37% (38/102) showed increased FAM134B DNA copies whereas 35% (36/102) showed loss of FAM134B copies relative to matched non-cancer tissues. Novel mutations were detected in exons 4, 5, 7, 9 as well as introns 2, 4-8 of FAM134B via HRM (High-Resolution Melt) and Sanger sequencing analysis. Overall, thirty-seven FAM134B mutations were noted in which most (31/37) mutations were homozygous. FAM134B mutations were detected in all the cases with metastatic ESCC in the lymph node tested and in 14% (8/57) of the primary ESCC. Genetic alteration of FAM134B is a frequent event in the progression of ESCCs. These findings imply that mutation might be the major driving source of FAM134B genetic modulation in ESCCs.
AB - Mutation of FAM134B (Family with Sequence Similarity 134, Member B) leading to loss of function of its encoded Golgi protein and has been reported induce apoptosis in neurological disorders. FAM134B mutation is still unexplored in cancer. Herein, we studied the DNA copy number variation and novel mutation sites of FAM134B in a large cohort of freshly collected oesophageal squamous cell carcinoma (ESCC) tissue samples. In ESCC tissues, 37% (38/102) showed increased FAM134B DNA copies whereas 35% (36/102) showed loss of FAM134B copies relative to matched non-cancer tissues. Novel mutations were detected in exons 4, 5, 7, 9 as well as introns 2, 4-8 of FAM134B via HRM (High-Resolution Melt) and Sanger sequencing analysis. Overall, thirty-seven FAM134B mutations were noted in which most (31/37) mutations were homozygous. FAM134B mutations were detected in all the cases with metastatic ESCC in the lymph node tested and in 14% (8/57) of the primary ESCC. Genetic alteration of FAM134B is a frequent event in the progression of ESCCs. These findings imply that mutation might be the major driving source of FAM134B genetic modulation in ESCCs.
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U2 - 10.1038/srep29173
DO - 10.1038/srep29173
M3 - Article
C2 - 27373372
AN - SCOPUS:84977177251
SN - 2045-2322
VL - 6
JO - Scientific Reports
JF - Scientific Reports
M1 - 29173
ER -
