Massive parallel sequencing in a family with rectal cancer.
Karin WallanderJessada ThutkawkorapinEllika SahlinAnnika LindblomKristina Lagerstedt-RobinsonPublished in: Hereditary cancer in clinical practice (2021)
By massive parallel sequencing in a family suspected of carrying a highly penetrant rectal cancer predisposing genetic variant, we found six genetic missense variants with a potential connection to the rectal cancer in this family. One of them could be a high-risk genetic variant, or one or more of them could be low risk variants. The p.(Glu438Lys) variant in the CENPB gene was found to be of particular interest. The CENPB protein binds DNA and helps form centromeres during mitosis. It is involved in the WNT signaling pathway, which is critical for colorectal cancer development and its role in inherited rectal cancer needs to be further examined.
Keyphrases
- rectal cancer
- copy number
- locally advanced
- genome wide
- signaling pathway
- stem cells
- dna methylation
- cell proliferation
- circulating tumor
- pulmonary embolism
- gene expression
- cell free
- epithelial mesenchymal transition
- single molecule
- small molecule
- protein protein
- human health
- climate change
- endoplasmic reticulum stress
- circulating tumor cells