Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors

Human Mutation
Reyna FavisFrancis Barany

Abstract

Both the mutational status and the specific mutation of TP53 (p53) have been shown to impact both tumor prognosis and response to therapies. Molecular profiling of solid tumors is confounded by infiltrating wild-type cells, since normal DNA can interfere with detection of mutant sequences. Our objective was to identify TP53 mutations in 138 stage I-IV colorectal adenocarcinomas and liver metastases without first enriching for tumor cells by microdissection. To achieve this, we developed a harmonized protocol involving multiplex polymerase chain reaction/ligase detection reaction (PCR/LDR) with Universal DNA microarray analysis and endonuclease V/ligase mutation scanning. Sequences were verified using dideoxy sequencing. The harmonized protocol detected all 66 mutations. Dideoxy sequencing detected 41 out of 66 mutations (62%) using automated reading, and 59 out of 66 mutations (89%) with manual reading. Data analysis comparing colon cancer entries in the TP53 database (http://p53.curie.fr) with the results reported in this study showed that distribution of mutations and the mutational events were comparable.

References

Dec 1, 1986·Molecular and Cellular Biology·N HarrisV Rotter
Sep 1, 1994·Human Heredity·G BeckmanL Beckman
Jan 1, 1994·Human Mutation·R Fodde, M Losekoot
Jun 23, 1999·Proceedings of the National Academy of Sciences of the United States of America·S A AhrendtD Sidransky
Aug 3, 1999·The Journal of Clinical Investigation·F BunzB Vogelstein
Sep 24, 1999·Journal of Molecular Biology·N P GerryF Barany
Nov 26, 1999·Nucleic Acids Research·M ZirviF Barany
Jun 7, 2000·Proceedings of the National Academy of Sciences of the United States of America·Y ZhangJ O Liu
Oct 25, 2000·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·R SoongB Iacopetta
Dec 1, 2000·Nature·B VogelsteinA J Levine
Jun 8, 2001·Journal of the National Cancer Institute·S M DongJ Jen
Jul 14, 2001·Nucleic Acids Research·P Kozlowski, W J Krzyzosiak
Sep 21, 2001·Journal of Protein Chemistry·J M ChenP W Brandt-Rauf
Feb 23, 2002·Science·Joanne L YuRobert S Kerbel
Mar 5, 2002·Nature Medicine·Vladimir J N BykovGalina Selivanova
Mar 20, 2002·Nature Reviews. Cancer·A N Bullock, A R Fersht
Mar 21, 2002·Nature Reviews. Cancer·T Soussi, C Béroud
Apr 5, 2002·Human Mutation·Arupa Ganguly
Apr 19, 2002·Biochimica Et Biophysica Acta·Karen H Vousden
Jul 26, 2002·Nucleic Acids Research·Brian W KirkFrancis Barany
Aug 3, 2002·Nature Reviews. Cancer·Karen H Vousden, Xin Lu
Nov 19, 2002·Clinical Breast Cancer·Jean-Marc NabholtzAlessandro Riva
Mar 6, 2003·Human Mutation·Christophe Béroud, Thierry Soussi
Mar 6, 2003·Human Mutation·Barry Iacopetta
Mar 6, 2003·Human Mutation·Anne-Lise Børresen-Dale
Jun 27, 2003·Proceedings of the National Academy of Sciences of the United States of America·Shunsuke KatoChikashi Ishioka

❮ Previous
Next ❯

Citations

Oct 30, 2004·Nucleic Acids Research·Hanna PincasFrancis Barany
May 23, 2008·Journal of Clinical Microbiology·S RondiniL M Golightly
Jun 6, 2012·Mutation Research·Rongjuan MiWeiguo Cao
Jun 20, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Byoung Chul ChoJoo Hang Kim
Jun 14, 2005·BioTechniques·Anthony T YeungEmmanuelle Nicolas
Feb 22, 2008·Electrophoresis·Michael J CrossRobert J Henry
Apr 13, 2006·Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire·Daniel J TurnerFrancis Barany

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.