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Germline mutations in PMS2 and MLH1 in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry Cohort

OBJECTIVES: Immunohistochemistry for DNA mismatch repair proteins is used to screen for Lynch syndrome in individuals with colorectal carcinoma (CRC). Although solitary loss of PMS2 expression is indicative of carrying a germline mutation in PMS2, previous studies reported MLH1 mutation in some case...

সম্পূর্ণ বিবরণ

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
প্রকাশিত:BMJ Open
প্রধান লেখক: Rosty, Christophe, Clendenning, Mark, Walsh, Michael D, Eriksen, Stine V, Southey, Melissa C, Winship, Ingrid M, Macrae, Finlay A, Boussioutas, Alex, Poplawski, Nicola K, Parry, Susan, Arnold, Julie, Young, Joanne P, Casey, Graham, Haile, Robert W, Gallinger, Steven, Le Marchand, Loïc, Newcomb, Polly A, Potter, John D, DeRycke, Melissa, Lindor, Noralane M, Thibodeau, Stephen N, Baron, John A, Win, Aung Ko, Hopper, John L, Jenkins, Mark A, Buchanan, Daniel D
বিন্যাস: Artigo
ভাষা:Inglês
প্রকাশিত: BMJ Publishing Group 2016
বিষয়গুলি:
অনলাইন ব্যবহার করুন:https://ncbi.nlm.nih.gov/pmc/articles/PMC4762074/
https://ncbi.nlm.nih.gov/pubmed/26895986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2015-010293
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