Using Somatic Mutations to Classify Pathogenic Lynch Syndrome Variants

被引：0
|
作者：
Shirts, B. [1 ]
Konnick, E. [1 ]
Jacobson, A. [1 ]
Garrett, L. [1 ]
Hampel, H. [2 ]
Pearlman, R. [2 ]
King, M. [1 ]
Walsh, T. [1 ]
Pritchard, C. [1 ]
机构：
[1] Univ Washington, Seattle, WA 98195 USA
[2] Ohio State Univ, Columbus, OH 43210 USA
来源：
JOURNAL OF MOLECULAR DIAGNOSTICS | 2016年 / 18卷 / 06期
关键词：
D O I：
暂无
中图分类号：
R36 [病理学];
学科分类号：
100104 ;
摘要：
G43
引用
收藏
页码：946 / 947
页数：2
相关论文
共 50 条
  • [1] Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes
    Shirts, Brian H.
    Konnick, Eric Q.
    Upham, Sarah
    Walsh, Tom
    Ranola, John Michael O.
    Jacobson, Angela L.
    King, Mary-Claire
    Pearlman, Rachel
    Hampel, Heather
    Pritchard, Colin C.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2018, 103 (01) : 19 - 29
  • [2] Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients
    Hampel, Heather
    Pearlman, Rachel
    de la Chapelle, Albert
    Pritchard, Colin C.
    Zhao, Weiqiang
    Jones, Dan
    Yilmaz, Ahmet
    Chen, Wei
    Frankel, Wendy L.
    Suarez, Adrian A.
    Cosgrove, Casey
    Backes, Floor
    Copeland, Larry
    Fowler, Jeffrey
    O'Malley, David
    Salani, Ritu
    McElroy, Joseph P.
    Stanich, Peter P.
    Goodfellow, Paul
    Cohn, David E.
    GYNECOLOGIC ONCOLOGY, 2021, 160 (01) : 161 - 168
  • [3] Lynch Syndrome and Somatic Mismatch Repair Variants in Pancreas Cancer
    O'Connor, Catherine A.
    Harrold, Emily
    Lin, David
    Walch, Henry
    Gazzo, Andrea
    Ranganathan, Megha
    Kane, Sarah
    Keane, Fergus
    Schoenfeld, Joshua
    Moss, Drew
    Thurtle-Schmidt, Deborah M.
    Suehnholz, Sarah P.
    Chakravarty, Debyani
    Balogun, Fiyinfolu
    Varghese, Anna
    Yu, Kenneth
    Kelsen, David
    Latham, Alicia
    Weigelt, Britta
    Park, Wungki
    Stadler, Zsofia
    O'Reilly, Eileen M.
    JAMA ONCOLOGY, 2024, 10 (11) : 1511 - 1518
  • [4] Analyzing pathogenic variants in Lynch syndrome by DNA and RNA sequencing
    Yamamoto, Gou
    Arai, Yoshiko
    Tachikawa, Tetsuhiko
    Akagi, Kiwamu
    CANCER SCIENCE, 2018, 109 : 1135 - 1135
  • [5] Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome
    Engel, Christoph
    Ahadova, Aysel
    Seppala, Toni T.
    Aretz, Stefan
    Bigirwamungu-Bargeman, Marloes
    Blaeker, Hendrik
    Bucksch, Karolin
    Buettner, Reinhard
    Cappel, Wouter T. De Vos Tot Nederveen
    Endris, Volker
    Holinski-Feder, Elke
    Holzapfel, Stefanie
    Hueneburg, Robert
    Jacobs, Maarten A. J. M.
    Koornstra, Jan J.
    Langers, Alexandra M.
    Lepisto, Anna
    Morak, Monika
    Moeslein, Gabriela
    Peltomaeki, Paivi
    Pylvaenaeinen, Kirsi
    Rahner, Nils
    Renkonen-Sinisalo, Laura
    Schulmann, Karsten
    Steinke-Lange, Verena
    Stenzinger, Albrecht
    Strassburg, Christian P.
    van de Meeberg, Paul C.
    van Kouwen, Mariette
    van Leerdam, Monique
    Vangala, Deepak B.
    Vecht, Juda
    Verhulst, Marie-Louise
    Doeberitz, Magnus von Knebel
    Weitz, Juergen
    Zachariae, Silke
    Loeffler, Markus
    Mecklin, Jukka-Pekka
    Kloor, Matthias
    Vasen, Hans F.
    GASTROENTEROLOGY, 2020, 158 (05) : 1326 - 1333
  • [6] A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome
    Drost, Mark
    Tiersma, Yvonne
    Thompson, Bryony A.
    Frederiksen, Jane H.
    Keijzers, Guido
    Glubb, Dylan
    Kathe, Scott
    Osinga, Jan
    Westers, Helga
    Pappas, Lisa
    Boucher, Kenneth M.
    Molenkamp, Siska
    Zonneveld, Jose B.
    van Asperen, Christi J.
    Goldgar, David E.
    Wallace, Susan S.
    Sijmons, Rolf H.
    Spurdle, Amanda B.
    Rasmussen, Lene J.
    Greenblatt, Marc S.
    de Wind, Niels
    Tavtigian, Sean V.
    GENETICS IN MEDICINE, 2019, 21 (07) : 1486 - 1496
  • [7] A pipeline for developing a novel, predictive tool to classify variants of uncertain significance (VUS) in Lynch Syndrome
    Arora, Sanjeevani
    Huwe, Peter J.
    Sikder, Rahmat
    Shah, Manali
    Deshpande, Sanat
    Hall, Michael J.
    Dunbrack, Roland L.
    Golemis, Erica A.
    CANCER RESEARCH, 2016, 76
  • [8] Somatic Mutations in the Mismatch Repair System Are Responsible for a Majority of Unexplained Lynch Syndrome Cases: Time to Revise Lynch Syndrome Screening?
    Xicola, Rosa M.
    Carroll, Timothy P.
    Emmadi, Rajyasree
    Alagiozian-Angelova, Victoria M.
    Alvikas, Jurgis
    Marwaha, Priti
    Regan, Maureen
    Gibson, Joanna
    Mitchell, Kisha A.
    Kupfer, Sonia S.
    Ellis, Nathan A.
    Llor, Xavier
    GASTROENTEROLOGY, 2015, 148 (04) : S570 - S570
  • [9] Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes
    Goverde, Anne
    Eikenboom, Ellis L.
    Viskil, Ellemieke L.
    Bruno, Marco J.
    Doukas, Michael
    Dinjens, Winand N. M.
    Dubbink, Erik Jan
    van den Ouweland, Ans M. W.
    Hofstra, Robert M. W.
    Wagner, Anja
    Spaander, Manon C. W.
    CLINICAL GASTROENTEROLOGY AND HEPATOLOGY, 2020, 18 (05) : 1112 - +
  • [10] Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome
    Drost, Mark
    Lutzen, Anne
    van Hees, Sandrine
    Ferreira, Daniel
    Calleja, Fabienne
    Zonneveld, Jose B. M.
    Nielsen, Finn Cilius
    Rasmussen, Lene Juel
    de Wind, Niels
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2013, 110 (23) : 9403 - 9408
12345