POLE c.940T>G ;(p.S314A)

Variant ID: 12-133252760-A-C

NM_006231.2(POLE):c.940T>G;(p.S314A)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


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: 940T>G; S314A; rs770403791
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 940T>G; S314A
PubMed Link: 36479248
Variant Present in the following documents:
  • Main text
  • fgene-13-963964.pdf
View BVdb publication page



A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research
Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H
Publication Date: 2022-01

Variant appearance in text: POLE: S314A
PubMed Link: 34963661
Variant Present in the following documents:
  • supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3
View BVdb publication page



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: S314A
PubMed Link: 34586735
Variant Present in the following documents:
  • CTM2-11-e524-s001.xlsx, sheet 2
  • CTM2-11-e524-s001.xlsx, sheet 6
View BVdb publication page



Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Sápi, Zoltán Z; Lippai, Zoltán Z; Papp, Gergő G; Hegyi, Lajos L; Sápi, Johanna J; Dezső, Katalin K; Szuhai, Károly K
Publication Date: 2021-12

Variant appearance in text: POLE: 940T>G; S314A
PubMed Link: 34381187
Variant Present in the following documents:
  • 41379_2021_883_MOESM1_ESM.pdf
View BVdb publication page



Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Sápi, Zoltán Z; Lippai, Zoltán Z; Papp, Gergő G; Hegyi, Lajos L; Sápi, Johanna J; Dezső, Katalin K; Szuhai, Károly K
Publication Date: 2021-12

Variant appearance in text: POLE: 940T>G; S314A
PubMed Link: 34381187
Variant Present in the following documents:
  • 41379_2021_883_MOESM1_ESM.pdf
View BVdb publication page



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: 940T>G; Ser314Ala; rs770403791
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



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: 940T>G; Ser314Ala
PubMed Link: 32567205
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1368.pdf
View BVdb publication page



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: S314A
PubMed Link: 32546565
Variant Present in the following documents:
  • jmedgenet-2019-106739supp001.xlsx, sheet 7
View BVdb publication page



Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region.

Cancer Cell International
Siraj, Abdul K AK; Parvathareddy, Sandeep Kumar SK; Bu, Rong R; Iqbal, Kaleem K; Siraj, Sarah S; Masoodi, Tariq T; Concepcion, Rica Micaela RM; Ghazwani, Laila Omar LO; AlBadawi, Ismail I; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS
Publication Date: 2019

Variant appearance in text: POLE: 940T>G
PubMed Link: 31866764
Variant Present in the following documents:
  • 12935_2019_Article_1058.pdf
View BVdb publication page



Whole-exome sequencing of ovarian cancer families uncovers putative predisposition genes.

International Journal Of Cancer
Zhu, Qianqian Q; Zhang, Jianmin J; Chen, Yanmin Y; Hu, Qiang Q; Shen, He H; Huang, Ruea-Yea RY; Liu, Qian Q; Kaur, Jasmine J; Long, Mark M; Battaglia, Sebastiano S; Eng, Kevin H KH; Lele, Shashikant B SB; Zsiros, Emese E; Villella, Jeannine J; Lugade, Amit A; Yao, Song S; Liu, Song S; Moysich, Kirsten K; Odunsi, Kunle O KO
Publication Date: 2020-04-15

Variant appearance in text: POLE: S314A; rs770403791
PubMed Link: 31265121
Variant Present in the following documents:
View BVdb publication page