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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Endometrial Neoplasms and POLD1[original query]
Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.
Gastroenterology 2014 Dec 147 (6): 1308-1316.e1.
Haraldsdottir Sigurdis, Hampel Heather, Tomsic Jerneja, Frankel Wendy L, Pearlman Rachel, de la Chapelle Albert, Pritchard Colin
Integrated analysis of the immunological and genetic status in and across cancer types: impact of mutational signatures beyond tumor mutational burden.
Oncoimmunology 2018 12 7 (12): e1526613.
Budczies Jan, Seidel Anja, Christopoulos Petros, Endris Volker, Kloor Matthias, Gy?rffy Balázs, Seliger Barbara, Schirmacher Peter, Stenzinger Albrecht, Denkert Carst
Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Molecular genetics & genomic medicine 2019 Mar e603.
Elsayed Fadwa A, Tops Carli M J, Nielsen Maartje, Ruano Dina, Vasen Hans F A, Morreau Hans, J Hes Frederik, van Wezel T
The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.
Familial cancer 2021 5 21 (2): 197-209.
Palles Claire, Martin Lynn, Domingo Enric, Chegwidden Laura, McGuire Josh, Cuthill Vicky, Heitzer Ellen, , Kerr Rachel, Kerr David, Kearsey Stephen, Clark Susan K, Tomlinson Ian, Latchford Andr
Germline multigene panel testing of patients with endometrial cancer.
Oncology letters 2023 5 25 (6): 216.
Jan Kral, Sandra Jelinkova, Petra Zemankova, Michal Vocka, Marianna Borecka, Leona Cerna, Marta Cerna, Lukas Dostalek, Petra Duskova, Lenka Foretova, Ondrej Havranek, Klara Horackova, Milena Hovhannisyan, Stepan Chvojka, Marta Kalousova, Marcela Kosarova, Monika Koudova, Vera Krutilkova, Eva Machackova, Petr Nehasil, Jan Novotny, Barbora Otahalova, Alena Puchmajerova, Marketa Safarikova, Jiri Slama, Viktor Stranecky, Ivan Subrt, Spiros Tavandzis, Michal Zikan, Tomas Zima, Jana Soukupova, Petra Kleiblova, Zdenek Kleibl, Marketa Janato
Discovery of recessive effect of human polymerase ? proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
European journal of human genetics : EJHG 2024 4 .
Maria A Andrianova, Vladimir B Seplyarskiy, Mariona Terradas, Ana Beatriz Sánchez-Heras, Pilar Mur, José Luis Soto, Gemma Aiza, Emma Borràs, Fyodor A Kondrashov, Alexey S Kondrashov, Georgii A Bazykin, Laura Val
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