Prevalent Homozygous Deletions of Type I Interferon and Defensin Genes in Human Cancers Associate with Immunotherapy Resistance

Prevailing homozygous deletion of interferon and defensin genes in human cancers

Division of Biomedical Statistics and Informatics, Department of Health Sciences, Mayo Clinic, Rochester, Minnesota, United States of America Department of Immunology, College of Medicine, Mayo Clinic, Rochester, Minnesota, United States of America Department of Urology, Mayo Clinic, Rochester, Minnesota, United States of America Department of Biochemistry and Molecular Biology, Mayo Clinic, Ro...

Homozygous deletions of methylthioadenosine phosphorylase in human biliary tract cancers.

The p16(INK4A)/CDKN2A gene on chromosome 9p21 is a site of frequent allelic loss in human cancers, and in a subset of cases, homozygous deletions at this locus encompass the telomeric methylthioadenosine phosphorylase (MTAP) gene. The MTAP gene product is the principal enzyme involved in purine synthesis via the salvage pathway, such that MTAP-negative cancers are solely dependent on de novo pu...

Homozygous and hemizygous deletions of 9p centromeric to the interferon genes in lung cancer.

Cytogenetic analysis has indicated that deletion of chromosome 9p occurs in a significant number of non-small cell lung and mesothelioma tumors. Using paired oligonucleotide primers, we have undertaken an extensive analysis of 9p markers to determine homozygous and heterozygous loss of marker sequences. Homozygous loss of D9S169 and D9S171, both of which map centromeric to the IFN gene cluster,...

Insertions and Deletions Target Lineage-Defining Genes in Human Cancers

Certain cell types function as factories, secreting large quantities of one or more proteins that are central to the physiology of the respective organ. Examples include surfactant proteins in lung alveoli, albumin in liver parenchyma, and lipase in the stomach lining. Whole-genome sequencing analysis of lung adenocarcinomas revealed noncoding somatic mutational hotspots near VMP1/MIR21 and ind...

I-5: Alteration in ?-Defensin 126 Genes Associated with Unexplained Male Infertility and ART Outcomes