Publications:

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MULTIPLE NEUROENDOCRINE NEOPLASIA IN A PATIENT WITH TYPE I NEUROFIBROMATOSIS (NF1): REPORT OF A NEW MUTATION (NF1, EXONS 2-30 DELETION) AND LITERATURE REVIEW.

Arquivos Brasileiros De Cirurgia Digestiva : Abcd = Brazilian Archives Of Digestive Surgery

Kanno, Danilo Toshio DT; Mattos, Roberta Lais Mendonça de RLM; Campos, Fábio Guilherme FG; Siqueira, Rayama Moreira RM; Carvalho, Rita Barbosa de RB; Real Martinez, Carlos Augusto CA

Publication Date: 2023

Variant appearance in text: POLE: 1370C>T; Thr457Met

PubMed Link: 36629684

Variant Present in the following documents:

• Main text
• 0102-6720-abcd-35-e1702.pdf

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Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.

Frontiers In Genetics

Jiang, Miao M; Jia, Yongliang Y; Han, Jinming J; Shi, Jianxiang J; Su, Chang C; Zhang, Rui R; Xing, Menglu M; Jin, Shuiling S; Zong, Hong H

Publication Date: 2022

Variant appearance in text: POLE: 1370C>T; T457M

PubMed Link: 36479248

Variant Present in the following documents:

• Main text
• fgene-13-963964.pdf

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POLE/POLD1 mutation in non-exonuclease domain matters for predicting efficacy of immune-checkpoint-inhibitor therapy.

Clinical And Translational Medicine

Chen, Yan-Xing YX; Wang, Zi-Xian ZX; Yuan, Shu-Qiang SQ; Jiang, Teng-Jia TJ; Huang, You-Sheng YS; Xu, Rui-Hua RH; Wang, Feng F; Zhao, Qi Q

Publication Date: 2021-09

Variant appearance in text: POLE: T457M

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 6
• CTM2-11-e524-s001.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: 1370C>T; T457M

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer

Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L

Publication Date: 2021-02-23

Variant appearance in text: POLE: 1370C>T; Thr457Met

PubMed Link: 33622313

Variant Present in the following documents:

• 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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POLE and POLD1 pathogenic variants in the proofreading domain in papillary thyroid cancer.

Endocrine Connections

Siraj, Abdul K AK; Bu, Rong R; Arshad, Maham M; Iqbal, Kaleem K; Parvathareddy, Sandeep Kumar SK; Masoodi, Tariq T; Ghazwani, Laila Omar LO; Al-Sobhi, Saif S SS; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS

Publication Date: 2020-10

Variant appearance in text: POLE: 1370C>T; Thr457Met

PubMed Link: 32992294

Variant Present in the following documents:

• Main text
• EC-20-0258.pdf

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POLE Mutation Characteristics in a Chinese Cohort with Endometrial Carcinoma.

Oncotargets And Therapy

Li, Yiran Y; He, Qizhi Q; Li, Shuangdi S; Wen, Xiaoli X; Ye, Lei L; Wang, Kai K; Wan, Xiaoping X

Publication Date: 2020

Variant appearance in text: POLE: T457M

PubMed Link: 32801757

Variant Present in the following documents:

• Main text
• ott-13-7305.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: POLE: T457M

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.

Molecular Genetics & Genomic Medicine

Siraj, Abdul K AK; Bu, Rong R; Iqbal, Kaleem K; Parvathareddy, Sandeep K SK; Masoodi, Tariq T; Siraj, Nabil N; Al-Rasheed, Maha M; Kong, Yan Y; Ahmed, Saeeda O SO; Al-Obaisi, Khadija A S KAS; Victoria, Ingrid G IG; Arshad, Maham M; Al-Dayel, Fouad F; Abduljabbar, Alaa A; Ashari, Luai H LH; Al-Kuraya, Khawla S KS

Publication Date: 2020-08

Variant appearance in text: POLE: 1370C>T; Thr457Met

PubMed Link: 32567205

Variant Present in the following documents:

• Main text
• MGG3-8-e1368.pdf

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Differences in the molecular profile of endometrial cancers from British White and British South Asian women.

Plos One

Polymeros, Konstantinos K; Guttery, David S DS; Hew, Roger R; Bishop, Rachael R; Stannard, Elizabeth E; Macip, Salvador S; Symonds, Paul P; Moss, Esther L EL

Publication Date: 2020

Variant appearance in text: POLE: 1370C>T; T457M

PubMed Link: 32520976

Variant Present in the following documents:

• pone.0233900.s001.xlsx, sheet 1

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: POLE: 1370C>T; T457M

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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Interpretation of somatic POLE mutations in endometrial carcinoma.

The Journal Of Pathology

León-Castillo, Alicia A; Britton, Heidi H; McConechy, Melissa K MK; McAlpine, Jessica N JN; Nout, Remi R; Kommoss, Stefan S; Brucker, Sara Y SY; Carlson, Joseph W JW; Epstein, Elisabeth E; Rau, Tilman T TT; Bosse, Tjalling T; Church, David N DN; Gilks, C Blake CB

Publication Date: 2020-03

Variant appearance in text: POLE: 1370C>T

PubMed Link: 31829442

Variant Present in the following documents:

• Main text
• PATH-250-323.pdf

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Phenotype of POLE-mutated endometrial cancer.

Plos One

Imboden, Sara S; Nastic, Denis D; Ghaderi, Mehran M; Rydberg, Filippa F; Rau, Tilman T TT; Mueller, Michael D MD; Epstein, Elisabeth E; Carlson, Joseph W JW

Publication Date: 2019

Variant appearance in text: POLE: 1370C>T; T457M

PubMed Link: 30917185

Variant Present in the following documents:

• Main text
• pone.0214318.pdf

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A novel POLE mutation associated with cancers of colon, pancreas, ovaries and small intestine.

Familial Cancer

Hansen, Maren F MF; Johansen, Jostein J; Bjørnevoll, Inga I; Sylvander, Anna E AE; Steinsbekk, Kristin S KS; Sætrom, Pål P; Sandvik, Arne K AK; Drabløs, Finn F; Sjursen, Wenche W

Publication Date: 2015-09

Variant appearance in text: POLE: Thr457Met

PubMed Link: 25860647

Variant Present in the following documents:

• Main text
• 10689_2015_Article_9803.pdf

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Mutations in POLE and survival of colorectal cancer patients--link to disease stage and treatment.

Cancer Medicine

Stenzinger, Albrecht A; Pfarr, Nicole N; Endris, Volker V; Penzel, Roland R; Jansen, Lina L; Wolf, Thomas T; Herpel, Esther E; Warth, Arne A; Klauschen, Frederick F; Kloor, Matthias M; Roth, Wilfried W; Bläker, Hendrik H; Chang-Claude, Jenny J; Brenner, Hermann H; Hoffmeister, Michael M; Weichert, Wilko W

Publication Date: 2014-12

Variant appearance in text: POLE: 1370C>T; T457M

PubMed Link: 25124163

Variant Present in the following documents:

• Main text
• cam40003-1527.pdf

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