Publications:

---

Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery

Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI

Publication Date: 2023-03-02

Variant appearance in text: KRAS: 101C>T; Pro34Leu; rs104894366

PubMed Link: 36862804

Variant Present in the following documents:

• cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6

View BVdb publication page

---

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: KRAS: P34L; rs104894366

PubMed Link: 36742322

Variant Present in the following documents:

• Table_8.xlsx, sheet 1

View BVdb publication page

---

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.

Bmc Pediatrics

Baldo, Francesco F; Fachin, Alice A; Da Re, Beatrice B; Rubinato, Elisa E; Bobbo, Marco M; Barbi, Egidio E

Publication Date: 2022-12-24

Variant appearance in text: KRAS: Pro34Leu

PubMed Link: 36566191

Variant Present in the following documents:

• Main text
• 12887_2022_Article_3804.pdf

View BVdb publication page

---

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: KRAS: P34L

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine

Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L

Publication Date: 2022-07

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 35747179

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

Development of a versatile HPLC-based method to evaluate the activation status of small GTPases.

The Journal Of Biological Chemistry

Araki, Makoto M; Yoshimoto, Kaho K; Ohta, Meguri M; Katada, Toshiaki T; Kontani, Kenji K

Publication Date: 2021-12

Variant appearance in text: KRAS: P34L

PubMed Link: 34801548

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Development of a versatile HPLC-based method to evaluate the activation status of small GTPases.

The Journal Of Biological Chemistry

Araki, Makoto M; Yoshimoto, Kaho K; Ohta, Meguri M; Katada, Toshiaki T; Kontani, Kenji K

Publication Date: 2021-11-19

Variant appearance in text: KRAS: P34L

PubMed Link: 34801548

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

---

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: KRAS: P34L

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

---

Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance.

Nature Communications

Zong, Xuan X; Zhang, Ying Y; Peng, Xinxin X; Cao, Dongyan D; Yu, Mei M; Wang, Jinhui J; Li, Hongyue H; Guo, Xuejiao X; Liang, Han H; Yang, Jiaxin J

Publication Date: 2021-06-11

Variant appearance in text: KRAS: P34L

PubMed Link: 34117242

Variant Present in the following documents:

• Main text
• 41467_2021_23681_MOESM2_ESM.pdf
• 41467_2021_Article_23681.pdf
• 41467_2021_23681_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology

Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN

Publication Date: 2021

Variant appearance in text: KRAS: P34L

PubMed Link: 34113354

Variant Present in the following documents:

• Table_1.xlsx, sheet 6

View BVdb publication page

---

Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: KRAS: P34L

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 5
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica

Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP

Publication Date: 2021-12-01

Variant appearance in text: KRAS: P34L

PubMed Link: 33147938

Variant Present in the following documents:

• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3

View BVdb publication page

---

Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica

Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP

Publication Date: 2021-12-01

Variant appearance in text: KRAS: P34L

PubMed Link: 33147938

Variant Present in the following documents:

• 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3

View BVdb publication page

---

Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: KRAS: P34L

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

View BVdb publication page

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KRAS: P34L

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.

Acta Neuropathologica Communications

Lorenz, Julia J; Rothhammer-Hampl, Tanja T; Zoubaa, Saida S; Bumes, Elisabeth E; Pukrop, Tobias T; Kölbl, Oliver O; Corbacioglu, Selim S; Schmidt, Nils O NO; Proescholdt, Martin M; Hau, Peter P; Riemenschneider, Markus J MJ

Publication Date: 2020-08-05

Variant appearance in text: KRAS: P34L

PubMed Link: 32758285

Variant Present in the following documents:

• 40478_2020_1000_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: KRAS: P34L

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

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: KRAS: P34L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Dunnett-Kane, V V; Burkitt-Wright, E E; Blackhall, F H FH; Malliri, A A; Evans, D G DG; Lindsay, C R CR

Publication Date: 2020-07

Variant appearance in text: KRAS: P34L

PubMed Link: 32240795

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: KRAS: P34L

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

---

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: KRAS: 101C>T; P34L

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine

Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS

Publication Date: 2019-11-29

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 31783775

Variant Present in the following documents:

• 13073_2019_683_MOESM2_ESM.xlsx, sheet 12

View BVdb publication page

---

Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 2

View BVdb publication page

---

Computational Screening and Analysis of Lung Cancer Related Non-Synonymous Single Nucleotide Polymorphisms on the Human Kirsten Rat Sarcoma Gene.

Molecules (Basel, Switzerland)

Wang, Qiankun Q; Mehmood, Aamir A; Wang, Heng H; Xu, Qin Q; Xiong, Yi Y; Wei, Dong-Qing DQ

Publication Date: 2019-05-21

Variant appearance in text: rs104894366

PubMed Link: 31117243

Variant Present in the following documents:

• molecules-24-01951.pdf

View BVdb publication page

---

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort.

Orphanet Journal Of Rare Diseases

Chen, Hao H; Li, Xin X; Liu, Xiaoliang X; Wang, Jian J; Zhang, Zhen Z; Wu, Jinjin J; Huang, Meirong M; Guo, Ying Y; Li, Fen F; Wang, Xiumin X; Fu, Lijun L

Publication Date: 2019-02-07

Variant appearance in text: KRAS: 101C>T; P34L

PubMed Link: 30732632

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1010.pdf

View BVdb publication page

---

A somatic activating NRAS variant associated with kaposiform lymphangiomatosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Barclay, Sarah F SF; Inman, Kyle W KW; Luks, Valerie L VL; McIntyre, John B JB; Al-Ibraheemi, Alyaa A; Church, Alanna J AJ; Perez-Atayde, Antonio R AR; Mangray, Shamlal S; Jeng, Michael M; Kreimer, Sara R SR; Walker, Lori L; Fishman, Steven J SJ; Alomari, Ahmad I AI; Chaudry, Gulraiz G; Trenor Iii, Cameron C CC; Adams, Denise D; Kozakewich, Harry P W HPW; Kurek, Kyle C KC

Publication Date: 2019-07

Variant appearance in text: KRAS: P34L

PubMed Link: 30542204

Variant Present in the following documents:

• NIHMS1521476-supplement-Supplementary_File.pdf

View BVdb publication page

---

Integrative omics analyses broaden treatment targets in human cancer.

Genome Medicine

Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L

Publication Date: 2018-07-27

Variant appearance in text: KRAS: P34L

PubMed Link: 30053901

Variant Present in the following documents:

• 13073_2018_564_MOESM2_ESM.xlsx, sheet 19
• 13073_2018_564_MOESM2_ESM.xlsx, sheet 13

View BVdb publication page

---

Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: KRAS: P34L

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 2

View BVdb publication page

---

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: KRAS: 101C>T; P34L

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KRAS: 101C>T; Pro34Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: rs104894366

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

---

Mobile Genome Express (MGE): A comprehensive automatic genetic analyses pipeline with a mobile device.

Plos One

Yoon, Jun-Hee JH; Kim, Thomas W TW; Mendez, Pedro P; Jablons, David M DM; Kim, Il-Jin IJ

Publication Date: 2017

Variant appearance in text: KRAS: 101C>T; P34L

PubMed Link: 28403238

Variant Present in the following documents:

• pone.0174696.pdf

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KRAS: P34L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: KRAS: P34L

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

View BVdb publication page

---

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Genome Medicine

Alakus, Hakan H; Babicky, Michele L ML; Ghosh, Pradipta P; Yost, Shawn S; Jepsen, Kristen K; Dai, Yang Y; Arias, Angelo A; Samuels, Michael L ML; Mose, Evangeline S ES; Schwab, Richard B RB; Peterson, Michael R MR; Lowy, Andrew M AM; Frazer, Kelly A KA; Harismendy, Olivier O

Publication Date: 2014

Variant appearance in text: KRAS: P34L

PubMed Link: 24944587

Variant Present in the following documents:

• gm559-S3.xls, sheet 12

View BVdb publication page

---

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology

Kiel, Christina C; Serrano, Luis L

Publication Date: 2014-05-06

Variant appearance in text: KRAS: P34L

PubMed Link: 24803665

Variant Present in the following documents:

• MSB-10-5-727-s13.xls, sheet 1
• MSB-10-5-727-s14.xlsx, sheet 1

View BVdb publication page

---

NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: rs104894366

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

---

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.

Croatian Medical Journal

Nosan, Gregor G; Bertok, Sara S; Vesel, Samo S; Yntema, Helger G HG; Paro-Panjan, Darja D

Publication Date: 2013-12

Variant appearance in text: KRAS: Pro34Leu

PubMed Link: 24382853

Variant Present in the following documents:

• Main text
• CroatMedJ_54_0574.pdf

View BVdb publication page

---

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Human Mutation

Gremer, Lothar L; Merbitz-Zahradnik, Torsten T; Dvorsky, Radovan R; Cirstea, Ion C IC; Kratz, Christian Peter CP; Zenker, Martin M; Wittinghofer, Alfred A; Ahmadian, Mohammad Reza MR

Publication Date: 2011-01

Variant appearance in text: KRAS: P34L

PubMed Link: 20949621

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Biochemical and functional characterization of germ line KRAS mutations.

Molecular And Cellular Biology

Schubbert, Suzanne S; Bollag, Gideon G; Lyubynska, Natalya N; Nguyen, Hoa H; Kratz, Christian P CP; Zenker, Martin M; Niemeyer, Charlotte M CM; Molven, Anders A; Shannon, Kevin K

Publication Date: 2007-11

Variant appearance in text: KRAS: P34L

PubMed Link: 17875937

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An unexpected new role of mutant Ras: perturbation of human embryonic development.

Journal Of Molecular Medicine (Berlin, Germany)

Kratz, Christian P CP; Niemeyer, Charlotte M CM; Zenker, Martin M

Publication Date: 2007-03

Variant appearance in text: KRAS: P34L

PubMed Link: 17211612

Variant Present in the following documents:

• Main text
• 109_2006_Article_135.pdf

View BVdb publication page

---

Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

Journal Of Medical Genetics

Zenker, Martin M; Lehmann, Katarina K; Schulz, Anna Leana AL; Barth, Helmut H; Hansmann, Dagmar D; Koenig, Rainer R; Korinthenberg, Rudolf R; Kreiss-Nachtsheim, Martina M; Meinecke, Peter P; Morlot, Susanne S; Mundlos, Stefan S; Quante, Anne S AS; Raskin, Salmo S; Schnabel, Dirk D; Wehner, Lars-Erik LE; Kratz, Christian P CP; Horn, Denise D; Kutsche, Kerstin K

Publication Date: 2007-02

Variant appearance in text:

PubMed Link: 17056636

Variant Present in the following documents:

• Main text

View BVdb publication page

---