PMC Links for Nucleotide (Select 382544572) - PMC

Select item 69987461.

Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing

Sun Hee Rosenthal, Weimin Sun, Ke Zhang, Yan Liu, Quoclinh Nguyen, Anna Gerasimova, Camille Nery, Linda Cheng, Carolyn Castonguay, Elaine Hiller, James Li, Christopher Elzinga, David Wolfson, Alla Smolgovsky, Rebecca Chen, Arlene Buller-Burckle, Joseph Catanese, Andrew Grupe, Felicitas Lacbawan, Renius Owen

Biomed Res Int. 2020; 2020: 3289023. Published online 2020 Jan 22. doi: 10.1155/2020/3289023

PMCID:: PMC6998746

Abstract Article PDF–443K

Select item 66876342.

A new mutL homolog 1 c.1896+5G>A germline mutation detected in a Lynch syndrome‐associated lung and gastric double primary cancer patient

Xuyuan Chen, Xiang Li, Hongsen Liang, Lichun Wei, Qiang Cui, Ming Yao, Xu Wu

Mol Genet Genomic Med. 2019 Aug; 7(8): e787. Published online 2019 Jun 17. doi: 10.1002/mgg3.787

PMCID:: PMC6687634

Abstract Article PDF–766K

Select item 61891883.

Optimization of the diagnosis of inherited colorectal cancer using NGS and capture of exonic and intronic sequences of panel genes

Stéphanie Baert-Desurmont, Sophie Coutant, Françoise Charbonnier, Pierre Macquere, François Lecoquierre, Mathias Schwartz, Maud Blanluet, Myriam Vezain, Raphaël Lanos, Olivier Quenez, Jacqueline Bou, Emilie Bouvignies, Steeve Fourneaux, Sandrine Manase, Stéphanie Vasseur, Jacques Mauillon, Marion Gerard, Régine Marlin, Gaëlle Bougeard, Julie Tinat, Thierry Frebourg, Isabelle Tournier

Eur J Hum Genet. 2018 Nov; 26(11): 1597–1602. Published online 2018 Jul 2. doi: 10.1038/s41431-018-0207-2

PMCID:: PMC6189188

Abstract Article PDF–1.6M

Select item 60579244.

RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing

Anne ML Jansen, Heleen M van der Klift, Marieke AE Roos, Jaap DH van Eendenburg, Carli MJ Tops, Juul T Wijnen, Frederik J Hes, Hans Morreau, Tom van Wezel

Eur J Hum Genet. 2018 Aug; 26(8): 1143–1150. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0153-z

PMCID:: PMC6057924

Abstract Article PDF–805K

Select item 58314185.

Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Patients With Pancreatic Ductal Adenocarcinoma

Jordan M. Cloyd, Matthew H. G. Katz, Huamin Wang, Amanda Cuddy, Y. Nancy You

JAMA Surg. 2017 Nov; 152(11): 1086–1088. Published online 2017 Aug 9. doi: 10.1001/jamasurg.2017.2631

PMCID:: PMC5831418

Abstract Article

Select item 53690126.

PMS2 gene mutation results in DNA mismatch repair system failure in a case of adult granulosa cell tumor

Wen-Chung Wang, Ya-Ting Lee, Yen-Chein Lai

J Ovarian Res. 2017; 10: 22. Published online 2017 Mar 27. doi: 10.1186/s13048-017-0317-4

PMCID:: PMC5369012

Abstract Article PDF–541K

Select item 46316367.

Risk of colorectal cancer for people with a mutation in both a MUTYH and a DNA mismatch repair gene

Aung Ko Win, Jeanette C. Reece, Daniel D. Buchanan, Mark Clendenning, Joanne P. Young, Sean P. Cleary, Hyeja Kim, Michelle Cotterchio, James G. Dowty, Robert J. MacInnis, Katherine M. Tucker, Ingrid M. Winship, Finlay A. Macrae, Terrilea Burnett, Loïc Le Marchand, Graham Casey, Robert W. Haile, Polly A. Newcomb, Stephen N. Thibodeau, Noralane M. Lindor, John L. Hopper, Steven Gallinger, Mark A. Jenkins

Fam Cancer. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Fam Cancer. 2015 Dec; 14(4): 575–583. doi: 10.1007/s10689-015-9824-x

PMCID:: PMC4631636

Abstract Article PDF–256K

Select item 44199078.

Clinical Decision Support for Whole Genome Sequence Information Leveraging a Service-Oriented Architecture: a Prototype

Brandon M. Welch, Salvador Rodriguez-Loya, Karen Eilbeck, Kensaku Kawamoto

AMIA Annu Symp Proc. 2014; 2014: 1188–1197. Published online 2014 Nov 14.

PMCID:: PMC4419907

Abstract Article PDF–460K

Select item 42947099.

Application of a five-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database

Bryony A. Thompson, Amanda B. Spurdle, John-Paul Plazzer, Marc S. Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T. den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P. Farrell, Susan M. Farrington, Ian M. Frayling, Thierry Frebourg, David E. Goldgar, Christopher D. Heinen, Elke Holinski-Feder, Maija Kohonen-Corish, Kristina Lagerstedt Robinson, Suet Yi Leung, Alexandra Martins, Pal Moller, Monika Morak, Minna Nystrom, Paivi Peltomaki, Marta Pineda, Ming Qi, Rajkumar Ramesar, Lene Juel Rasmussen, Brigitte Royer-Pokora, Rodney J. Scott, Rolf Sijmons, Sean V. Tavtigian, Carli M. Tops, Thomas Weber, Juul Wijnen, Michael O. Woods, Finlay Macrae, Maurizio Genuardi

Nat Genet. Author manuscript; available in PMC 2015 Jan 14.

Published in final edited form as: Nat Genet. 2014 Feb; 46(2): 107–115. Published online 2013 Dec 22. doi: 10.1038/ng.2854

PMCID:: PMC4294709

Abstract Article PDF–1.6M

Select item 390779710.

Efficacy and Feasibility of the Epithelial Cell Adhesion Molecule (EpCAM) Immunomagnetic Cell Sorter for Studies of DNA Methylation in Colorectal Cancer

Alessandra Failli, Annalisa Legitimo, Francesca Migheli, Fabio Coppedè, John C. Mathers, Roberto Spisni, Paolo Miccoli, Lucia Migliore, Rita Consolini

Int J Mol Sci. 2014 Jan; 15(1): 44–57. Published online 2013 Dec 20. doi: 10.3390/ijms15010044

PMCID:: PMC3907797

Abstract Article PDF–505K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 10

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity