Publications:

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Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.

Breast Cancer Research : Bcr

Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI

Publication Date: 2023-05-25

Variant appearance in text: POLE: 556G>A; A186T

PubMed Link: 37231433

Variant Present in the following documents:

• 13058_2023_1627_MOESM4_ESM.xlsx, sheet 4

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: POLE: Ala186Thr; rs375213599

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

View BVdb publication page

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Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: POLE: 556G>A; A186T

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s002.xlsx, sheet 1
• ADVS-9-2103360-s002.xlsx, sheet 2

View BVdb publication page

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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: A186T

PubMed Link: 34586735

Variant Present in the following documents:

• CTM2-11-e524-s001.xlsx, sheet 2

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: 556G>A; Ala186Thr; rs375213599

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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Distinctive mechanisms underlie the loss of SMARCB1 protein expression in renal medullary carcinoma: morphologic and molecular analysis of 20 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Jia, Liwei L; Carlo, Maria I MI; Khan, Hina H; Nanjangud, Gouri J GJ; Rana, Satshil S; Cimera, Robert R; Zhang, Yanming Y; Hakimi, A Ari AA; Verma, Amit K AK; Al-Ahmadie, Hikmat A HA; Fine, Samson W SW; Gopalan, Anuradha A; Sirintrapun, S Joseph SJ; Tickoo, Satish K SK; Reuter, Victor E VE; Gartrell, Benjamin A BA; Chen, Ying-Bei YB

Publication Date: 2019-09

Variant appearance in text: POLE: A186T

PubMed Link: 30980040

Variant Present in the following documents:

• NIHMS1523944-supplement-1.xlsx, sheet 1

View BVdb publication page

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Genomic Characterization of Renal Medullary Carcinoma and Treatment Outcomes.

Clinical Genitourinary Cancer

Carlo, Maria I MI; Chaim, Joshua J; Patil, Sujata S; Kemel, Yelena Y; Schram, Alison M AM; Woo, Kaitlin K; Coskey, Devyn D; Nanjangud, Gouri J GJ; Voss, Martin H MH; Feldman, Darren R DR; Hsieh, James J JJ; Hakimi, A Ari AA; Chen, Ying-Bei YB; Motzer, Robert J RJ; Lee, Chung-Han CH

Publication Date: 2017-12

Variant appearance in text: POLE: A186T

PubMed Link: 28558987

Variant Present in the following documents:

• Main text

View BVdb publication page

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