Related Experiment Video
Updated: Mar 18, 2026
Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
Published on: August 24, 2017
Identification of Novel FAM134B (JK1) Mutations in Oesophageal Squamous Cell Carcinoma
Md Hakimul Haque1, Vinod Gopalan1, Kwok-Wah Chan2
1Cancer Molecular Pathology in Menzies Health Institute Queensland, Griffith University, Gold Coast, Australia.
Abstract:
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.
Insights
Mutations in FAM134B (Family with Sequence Similarity 134, Member B) are frequent in oesophageal squamous cell carcinoma (ESCC), impacting its progression. These genetic alterations, including copy number variations and novel mutations, are linked to ESCC development.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Family with Sequence Similarity 134, Member B (FAM134B) protein, involved in apoptosis in neurological disorders, has an unexplored role in cancer.
- Oesophageal squamous cell carcinoma (ESCC) is a significant global health concern with complex genetic underpinnings.
Purpose of the Study:
- To investigate DNA copy number variations and novel mutation sites of FAM134B in a large cohort of ESCC tissue samples.
- To determine the frequency and nature of FAM134B genetic alterations in ESCC progression.
Main Methods:
- Analysis of DNA copy number variation in ESCC tissues compared to matched non-cancerous tissues.
- High-Resolution Melt (HRM) and Sanger sequencing to identify novel mutations in FAM134B exons and introns.
- Correlation of FAM134B mutations with ESCC primary and metastatic samples.
Main Results:
- 37% of ESCC tissues showed increased FAM134B DNA copies, while 35% showed decreased copies.
- Novel homozygous mutations were identified in multiple FAM134B exons and introns.
- FAM134B mutations were present in all tested metastatic ESCC lymph nodes and 14% of primary ESCC.
Conclusions:
- Genetic alteration of FAM134B is a frequent event in ESCC progression.
- Mutation is likely a major driver of FAM134B genetic modulation in ESCC.
- FAM134B warrants further investigation as a potential therapeutic target in ESCC.
