PMC Links for Nucleotide (Select 382544768) - 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 65030202.

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype

Giulia Cini, Michele Quaia, Vincenzo Canzonieri, Mara Fornasarig, Roberta Maestro, Alberto Morabito, Angela Valentina D'Elia, Emanuele Damiano Urso, Isabella Mammi, Alessandra Viel

Mol Genet Genomic Med. 2019 May; 7(5): e587. Published online 2019 Mar 27. doi: 10.1002/mgg3.587

PMCID:: PMC6503020

Abstract Article PDF–637K

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 42004268.

Biallelic MUTYH mutations can mimic Lynch syndrome

Monika Morak, Barbara Heidenreich, Gisela Keller, Heather Hampel, Andreas Laner, Albert de la Chapelle, Elke Holinski-Feder

Eur J Hum Genet. 2014 Nov; 22(11): 1334–1337. Published online 2014 Feb 12. doi: 10.1038/ejhg.2014.15

PMCID:: PMC4200426

Abstract Article PDF–381K

Select item 35482579.

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

Iolanda Borelli, Marco A Barberis, Francesca Spina, Guido C Casalis Cavalchini, Caterina Vivanet, Luisa Balestrino, Monica Micheletti, Anna Allavena, Paola Sala, Carlo Carcassi, Barbara Pasini

Eur J Hum Genet. 2013 Feb; 21(2): 154–161. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.150

PMCID:: PMC3548257

Abstract Article PDF–1.1M

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