Exome sequencing in one family with gastric- and rectal cancer

BMC Genetics

Research Article

Daniel Nilsson¹  Vinaykumar Kontham¹  Annika Lindblom¹  Tao Liu¹  Jessada Thutkawkorapin¹  Simone Picelli² 

[1] Karolinska Institutet, Department of Molecular Medicine and Surgery, Stockholm, Sweden;Karolinska Institutet, Department of Molecular Medicine and Surgery, Stockholm, Sweden;Eukaryotic Single Cell Genomics facility, Science for Life Laboratory, Stockholm, Sweden;

关键词: Next Generation Sequencing;    Exome sequencing;    Bioinformatics;    Familial;    Colorectal cancer;    Genetics;   

DOI  :  10.1186/s12863-016-0351-z

 received in 2015-11-26, accepted in 2016-02-08,  发布年份 2016

来源: Springer

【 摘 要 】

BackgroundHeritable factors are well known to increase the risk of cancer in families. Known susceptibility genes account for a small proportion of all colorectal cancer cases. The aim of this study was to identify the genetic background in a family suggested to segregate a dominant cancer syndrome with a high risk of rectal- and gastric cancer. We performed whole exome sequencing in three family members, 2 with rectal cancer and 1 with gastric cancer and followed it up in additional family members, other patients and controls.ResultsWe identified 12 novel non-synonymous single nucleotide variants, which were shared among 5 affected members of this family. The mutations were found in 12 different genes; DZIP1L, PCOLCE2, IGSF10, SUCNR1, OR13C8, EPB41L4B, SEC16A, NOTCH1, TAS2R7, SF3A1, GAL3ST1, and TRIOBP. None of the mutations was suggested as a high penetrant mutation. It was not possible to completely rule out any of the mutations as contributing to disease, although seven were more unlikely than the others. Neither did we rule out the effect of all thousands of intronic, intergenic and synonymous variants shared between the three persons used for exome sequencing.ConclusionsWe propose this family, suggested to segregate dominant disease, could be an example of complex inheritance.

【 授权许可】

CC BY   
© Thutkawkorapin et al. 2016