Publications:

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Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.

Molecular Medicine (Cambridge, Mass.)

Tavano, Francesca F; Gioffreda, Domenica D; Fontana, Andrea A; Palmieri, Orazio O; Gentile, Annamaria A; Latiano, Tiziana T; Latiano, Anna A; Latiano, Tiziana Pia TP; Scaramuzzi, Matteo M; Maiello, Evaristo E; Bazzocchi, Francesca F; Perri, Francesco F

Publication Date: 2023-01-30

Variant appearance in text: POLE: 1738C>A; His580Asn

PubMed Link: 36717774

Variant Present in the following documents:

• 10020_2023_600_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.

Acta Neuropathologica Communications

Daoud, Elena V EV; Zhu, Kelsey K; Mickey, Bruce B; Mohamed, Hussein H; Wen, Mandisa M; Delorenzo, Michael M; Tran, Ivy I; Serrano, Jonathan J; Hatanpaa, Kimmo J KJ; Raisanen, Jack M JM; Snuderl, Matija M; Cai, Chunyu C

Publication Date: 2022-04-19

Variant appearance in text: POLE: 1738C>A; His580Asn; rs371149234

PubMed Link: 35440040

Variant Present in the following documents:

• 40478_2022_1362_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Anti-tumor activity of cetuximab plus avelumab in non-small cell lung cancer patients involves innate immunity activation: findings from the CAVE-Lung trial.

Journal Of Experimental & Clinical Cancer Research : Cr

Della Corte, Carminia Maria CM; Fasano, Morena M; Ciaramella, Vincenza V; Cimmino, Flora F; Cardnell, Robert R; Gay, Carl M CM; Ramkumar, Kavya K; Diao, Lixia L; Di Liello, Raimondo R; Viscardi, Giuseppe G; Famiglietti, Vincenzo V; Ciardiello, Davide D; Martini, Giulia G; Napolitano, Stefania S; Tuccillo, Concetta C; Troiani, Teresa T; Martinelli, Erika E; Wang, Jing J; Byers, Lauren L; Morgillo, Floriana F; Ciardiello, Fortunato F

Publication Date: 2022-03-26

Variant appearance in text: POLE: H580N; rs371149234

PubMed Link: 35346313

Variant Present in the following documents:

• 13046_2022_2332_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Recurrent oligodendroglioma with changed 1p/19q status.

Neuropathology : Official Journal Of The Japanese Society Of Neuropathology

Barresi, Valeria V; Mafficini, Andrea A; Calicchia, Martina M; Piredda, Maria Liliana ML; Musumeci, Angelo A; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2022-04

Variant appearance in text: POLE: H580N

PubMed Link: 35144313

Variant Present in the following documents:

• NEUP-42-160-s001.xlsx, sheet 1

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: POLE: 1738C>A; His580Asn; rs371149234

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Frontiers In Genetics

Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T

Publication Date: 2020

Variant appearance in text: POLE: 1738C>A; H580N

PubMed Link: 33193653

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer.

Journal Of Medical Genetics

Song, Honglin H; Dicks, Ed M EM; Tyrer, Jonathan J; Intermaggio, Maria M; Chenevix-Trench, Georgia G; Bowtell, David D DD; Traficante, Nadia N; Group, Aocs A; Brenton, James J; Goranova, Teodora T; Hosking, Karen K; Piskorz, Anna A; van Oudenhove, Elke E; Doherty, Jen J; Harris, Holly R HR; Rossing, Mary Anne MA; Duerst, Matthias M; Dork, Thilo T; Bogdanova, Natalia V NV; Modugno, Francesmary F; Moysich, Kirsten K; Odunsi, Kunle K; Ness, Roberta R; Karlan, Beth Y BY; Lester, Jenny J; Jensen, Allan A; Krüger Kjaer, Susanne S; Høgdall, Estrid E; Campbell, Ian G IG; Lázaro, Conxi C; Pujara, Miguel Angel MA; Cunningham, Julie J; Vierkant, Robert R; Winham, Stacey J SJ; Hildebrandt, Michelle M; Huff, Chad C; Li, Donghui D; Wu, Xifeng X; Yu, Yao Y; Permuth, Jennifer B JB; Levine, Douglas A DA; Schildkraut, Joellen M JM; Riggan, Marjorie J MJ; Berchuck, Andrew A; Webb, Penelope M PM; Group, Opal Study OS; Cybulski, Cezary C; Gronwald, Jacek J; Jakubowska, Anna A; Lubinski, Jan J; Alsop, Jennifer J; Harrington, Patricia P; Chan, Isaac I; Menon, Usha U; Pearce, Celeste L CL; Wu, Anna H AH; de Fazio, Anna A; Kennedy, Catherine J CJ; Goode, Ellen E; Ramus, Susan S; Gayther, Simon S; Pharoah, Paul P

Publication Date: 2021-05

Variant appearance in text: POLE: H580N

PubMed Link: 32546565

Variant Present in the following documents:

• jmedgenet-2019-106739supp001.xlsx, sheet 7

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs371149234

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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