Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: POLE: 1041G>T; W347C; rs1048183984

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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Current Prognostic and Predictive Biomarkers for Endometrial Cancer in Clinical Practice: Recommendations/Proposal from the Italian Study Group.

Frontiers In Oncology

Zannoni, Gian Franco GF; Bragantini, Emma E; Castiglione, Francesca F; Fassan, Matteo M; Troncone, Giancarlo G; Inzani, Frediano F; Pesci, Anna A; Santoro, Angela A; Fraggetta, Filippo F

Publication Date: 2022

Variant appearance in text: POLE: W347C

PubMed Link: 35463299

Variant Present in the following documents:

• Main text
• fonc-12-805613.pdf

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Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: POLE: Trp347Cys

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

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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: 1041G>T; Trp347Cys

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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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: W347C

PubMed Link: 32546565

Variant Present in the following documents:

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

View BVdb publication page

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Melanoma Risk and Melanocyte Biology.

Acta Dermato-Venereologica

Bertrand, Julie U JU; Steingrimsson, Eirikur E; Jouenne, Fanélie F; Bressac-de Paillerets, Brigitte B; Larue, Lionel L

Publication Date: 2020-06-03

Variant appearance in text: POLE: Trp347Cys

PubMed Link: 32346747

Variant Present in the following documents:

• Main text
• ActaDV-100-11-5749.pdf

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: POLE: W347C

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Replicative DNA polymerase defects in human cancers: Consequences, mechanisms, and implications for therapy.

Dna Repair

Barbari, Stephanie R SR; Shcherbakova, Polina V PV

Publication Date: 2017-08

Variant appearance in text: POLE: W347C

PubMed Link: 28687338

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Alterations in Fatal Forms of Non-Anaplastic Thyroid Cancer: Identification of MED12 and RBM10 as Novel Thyroid Cancer Genes Associated with Tumor Virulence.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Ibrahimpasic, Tihana T; Xu, Bin B; Landa, Iñigo I; Dogan, Snjezana S; Middha, Sumit S; Seshan, Venkatraman V; Deraje, Shyam S; Carlson, Diane L DL; Migliacci, Jocelyn J; Knauf, Jeffrey A JA; Untch, Brian B; Berger, Michael F MF; Morris, Luc L; Tuttle, R Michael RM; Chan, Timothy T; Fagin, James A JA; Ghossein, Ronald R; Ganly, Ian I

Publication Date: 2017-10-01

Variant appearance in text: POLE: 1041G>T

PubMed Link: 28634282

Variant Present in the following documents:

• Main text

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POLE and POLD1 screening in 155 patients with multiple polyps and early-onset colorectal cancer.

Oncotarget

Esteban-Jurado, Clara C; Giménez-Zaragoza, David D; Muñoz, Jenifer J; Franch-Expósito, Sebastià S; Álvarez-Barona, Miriam M; Ocaña, Teresa T; Cuatrecasas, Miriam M; Carballal, Sabela S; López-Cerón, María M; Marti-Solano, Maria M; Díaz-Gay, Marcos M; van Wezel, Tom T; Castells, Antoni A; Bujanda, Luis L; Balmaña, Judith J; Gonzalo, Victoria V; Llort, Gemma G; Ruiz-Ponte, Clara C; Cubiella, Joaquín J; Balaguer, Francesc F; Aligué, Rosa R; Castellví-Bel, Sergi S

Publication Date: 2017-04-18

Variant appearance in text: POLE: W347C

PubMed Link: 28423643

Variant Present in the following documents:

• Main text
• oncotarget-08-26732.pdf

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Risks at the DNA Replication Fork: Effects upon Carcinogenesis and Tumor Heterogeneity.

Genes

Mertz, Tony M TM; Harcy, Victoria V; Roberts, Steven A SA

Publication Date: 2017-01-22

Variant appearance in text: POLE: W347C

PubMed Link: 28117753

Variant Present in the following documents:

• Main text

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