Germline Variants That Affect Tumor Progression.

Trends in Genetics : TIG
Ajay ChatrathAnindya Dutta

Abstract

Germline variants have a rich history of being studied in the context of cancer risk. Emerging studies now suggest that germline variants contribute not only to cancer risk but to tumor progression as well. In this opinion article, we discuss the initial discoveries associating germline variants with patient outcome and the mechanisms by which germline variants affect molecular pathways. Germline variants affect molecular pathways through amino acid changes, alteration of splicing patterns or expression of genes, influencing the selection for somatic mutations, and causing genome-wide mutational enrichment. These molecular alterations can lead to tumor phenotypes that become clinically apparent such as metastasis, alterations to the immune microenvironment, and modulation of therapeutic response. Overall, the growing body of evidence suggests that germline variants play a larger role in tumor progression than has been previously appreciated and that germline variation holds substantial potential for improving personalized medicine and patient outcomes.

References

Dec 31, 2008·International Journal of Cancer. Journal International Du Cancer·Thibaud KoesslerPaul D P Pharoah
Mar 17, 2009·Nature Genetics·Amy V JonesNicholas C P Cross
Mar 17, 2009·Nature Genetics·Damla OlcayduRobert Kralovics
Apr 2, 2009·Nature Genetics·Peter J Campbell
Jun 18, 2010·Current Opinion in Genetics & Development·Walter Bodmer, Ian Tomlinson
Mar 8, 2011·Cell·Douglas Hanahan, Robert A Weinberg
Aug 13, 2011·Nature·Alice H BergerPier Paolo Pandolfi
Oct 18, 2011·Proceedings of the National Academy of Sciences of the United States of America·Ju-Hyun ParkNilanjan Chatterjee
May 30, 2013·Nature Genetics·UNKNOWN GTEx Consortium
Jan 17, 2014·Nature·Nazneen Rahman
Jan 23, 2014·Nature Communications·Krishna L KanchiLi Ding
Oct 16, 2015·Nature·Mary V Relling, William E Evans
Oct 23, 2015·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Michał SwierniakKrystian Jazdzewski
Nov 19, 2015·The New England Journal of Medicine·Jinghui ZhangJames R Downing
Feb 12, 2017·Cancer Discovery·Hannah CarterTrey Ideker
Oct 14, 2017·Nature Reviews. Cancer·Amit SudRichard S Houlston
Nov 6, 2017·Mayo Clinic Proceedings·Richard M Weinshilboum, Liewei Wang
Jan 11, 2018·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Yao YuChad D Huff
Mar 31, 2018·Nature Reviews. Clinical Oncology·Michael F Berger, Elaine R Mardis
Apr 7, 2018·Cell·Kuan-Lin HuangLi Ding
Aug 7, 2018·British Journal of Haematology·Angelica MacaudaDaniele Campa
Oct 30, 2018·Nucleic Acids Research·John G TateSimon A Forbes
Nov 23, 2018·Proceedings of the National Academy of Sciences of the United States of America·Yoong Wearn LimMatthew L Albert
Jan 18, 2019·Molecular Cancer Research : MCR·Ajay ChatrathAnindya Dutta
Jan 27, 2019·Melanoma Research·Vivien MarasiganMarjan Garmyn
May 10, 2019·Nature·Mahmoud GhandiWilliam R Sellers
May 28, 2019·Trends in Genetics : TIG·Johnny R RamroopAmanda Ewart Toland
May 31, 2019·Journal of Neurological Surgery. Part B, Skull Base·Panagiotis MastorakosJohn A Jane
Aug 15, 2019·Advances in Therapy·Sanjeevani AroraYanis Boumber
Sep 13, 2019·Nature Communications·Julian MusaThomas G P Grünewald
Nov 13, 2019·Advances in Experimental Medicine and Biology·María Luisa Romero Lagunes, Francisco Emilio Vera Badillo
Nov 18, 2019·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Matthew G SummersJeremy P Cheadle
Dec 10, 2019·Journal of Oncology·Tarun Karthik Kumar MamidiChindo Hicks
Feb 7, 2020·Nature·UNKNOWN ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium
Feb 19, 2020·Genome Medicine·Ajay ChatrathAnindya Dutta

❮ 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.