Rapid identification of somatic mutations in colorectal and breast cancer tissues using mismatch repair detection (MRD)

Human Mutation
Steven BentivegnaAlbert B Seymour

Abstract

Mismatch repair detection (MRD) was used to screen 93 matched tumor-normal sample pairs and 22 cell lines for somatic mutations in 30 cancer relevant genes. Using a starting amount of only 150 ng of genomic DNA, we screened 102 kb of sequence for somatic mutations in colon and breast cancer. A total of 152 somatic mutations were discovered, encompassing previously reported mutations, such as BRAF V600E and KRAS G12S, G12V, and G13D, as well as novel mutations, including some in genes in which somatic mutations have not previously been reported, such as MAP2K1 and MAP2K2. The distribution of mutations ranged widely within and across tumor types. The functional significance of many of these mutations is not understood, with patterns of selection only evident in KRAS and BRAF in colon cancer. These results present a novel approach to high-throughput mutation screening using small amounts of starting material and reveal a mutation spectrum across 30 genes in a large cohort of breast and colorectal cancers.

References

May 1, 1996·BioTechniques·C M RobbinsP M Gillevet
Apr 27, 2000·Trends in Genetics : TIG·S SunyaevP Bork
Aug 7, 2001·Human Molecular Genetics·M FahamN B Freimer
Sep 5, 2001·British Journal of Cancer·H J AndreyevN Urosevic
Feb 19, 2002·EMBO Reports·Giuseppe GianniniAlberto Gulino
Aug 29, 2002·Nature·Harith RajagopalanVictor E Velculescu
Mar 24, 2004·Cell·Paul T C WanUNKNOWN Cancer Genome Project
Apr 9, 2004·The New England Journal of Medicine·Ching-Hon PuiJames R Downing
Aug 21, 2004·Carcinogenesis·Laura OttiniDomenico Palli
Nov 16, 2004·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Takeshi NagasakaNagahide Matsubara
Jul 7, 2005·Journal of the National Cancer Institute·William L InceHartmut Koeppen
Sep 17, 2005·Cancer Research·David J AratenLucio Luzzatto
Oct 6, 2005·Proceedings of the National Academy of Sciences of the United States of America·Malek FahamRonald W Davis
Jan 7, 2006·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Jong Woo LeeSug Hyung Lee
Jan 28, 2006·Science·Pablo Rodriguez-VicianaKatherine A Rauen
Sep 9, 2006·Science·Tobias SjöblomVictor E Velculescu

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Citations

Dec 27, 2011·Nature Genetics·Sergey I NikolaevStylianos E Antonarakis
Jul 5, 2008·Proceedings of the National Academy of Sciences of the United States of America·Sujatha KrishnakumarRonald Davis
Apr 4, 2009·Proceedings of the National Academy of Sciences of the United States of America·Jianbiao ZhengMalek Faham
Jul 4, 2012·Briefings in Functional Genomics·Jennifer L Bromberg-WhiteNicholas S Duesbery
Feb 14, 2012·Carcinogenesis·Young Lim ChoiHiroyuki Mano
Mar 19, 2013·BMC Medical Genetics·Hongzhuan YinQi Su
Jun 18, 2015·International Journal of Oncology·Takuro MizukamiKazuto Nishio
Mar 23, 2011·IEEE/ACM Transactions on Computational Biology and Bioinformatics·Yang XiangKun Huang
Jul 10, 2010·Journal of Biomedicine & Biotechnology·Sylwia JancíkMarián Hajdúch
Dec 3, 2014·Biochimica Et Biophysica Acta·Stine Aske DanielsenRagnhild A Lothe
Apr 6, 2016·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Noura J ChoudhuryPeter H O'Donnell
Jan 22, 2021·Molecular Biology of the Cell·Robert A MarmionStanislav Y Shvartsman
May 4, 2021·Biochemistry and Molecular Biology Education : a Bimonthly Publication of the International Union of Biochemistry and Molecular Biology·Princess D RodriguezSeth Frietze

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