Publications:

---

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: 15A>T; Lys5Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.

Frontiers In Oncology

Merati, Gabriele G; Rossi, Marianna M; Gallì, Anna A; Roncoroni, Elisa E; Zibellini, Silvia S; Rizzo, Ettore E; Pietra, Daniela D; Picone, Cristina C; Rocca, Barbara B; Cabrera, Claudia Patricia Tobar CPT; Gelli, Eleonora E; Santacroce, Eugenio E; Arcaini, Luca L; Zappasodi, Patrizia P

Publication Date: 2021

Variant appearance in text: KRAS: K5N

PubMed Link: 34540694

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

---

Therapeutic options for mucinous ovarian carcinoma.

Gynecologic Oncology

Gorringe, Kylie L KL; Cheasley, Dane D; Wakefield, Matthew J MJ; Ryland, Georgina L GL; Allan, Prue E PE; Alsop, Kathryn K; Amarasinghe, Kaushalya C KC; Ananda, Sumitra S; Bowtell, David D L DDL; Christie, Michael M; Chiew, Yoke-Eng YE; Churchman, Michael M; DeFazio, Anna A; Fereday, Sian S; Gilks, C Blake CB; Gourley, Charlie C; Hadley, Alison M AM; Hendley, Joy J; Hunter, Sally M SM; Kaufmann, Scott H SH; Kennedy, Catherine J CJ; Köbel, Martin M; Le Page, Cecile C; Li, Jason J; Lupat, Richard R; McNally, Orla M OM; McAlpine, Jessica N JN; Pyman, Jan J; Rowley, Simone M SM; Salazar, Carolina C; Saunders, Hugo H; Semple, Timothy T; Stephens, Andrew N AN; Thio, Niko N; Torres, Michelle C MC; Traficante, Nadia N; Zethoven, Magnus M; Antill, Yoland C YC; Campbell, Ian G IG; Scott, Clare L CL

Publication Date: 2020-03

Variant appearance in text: KRAS: Lys5Asn

PubMed Link: 31902686

Variant Present in the following documents:

• Main text
• nihms-1548042.pdf

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: 15A>T

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: 15A>T; Lys5Asn

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 2
• 41467_2019_11180_MOESM8_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: rs104894361

PubMed Link: 31117243

Variant Present in the following documents:

• Main text
• molecules-24-01951.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KRAS: K5N; rs104894361

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Heterogeneity in the colorectal primary tumor and the synchronous resected liver metastases prior to and after treatment with an anti-EGFR monoclonal antibody.

Molecular And Clinical Oncology

Adua, Daniela D; Di Fabio, Francesca F; Ercolani, Giorgio G; Fiorentino, Michelangelo M; Gruppioni, Elisa E; Altimari, Annalisa A; Rojas Limpe, Fabiola Lorena FL; Normanno, Nicola N; Pinna, Antonio Daniele AD; Pinto, Carmine C

Publication Date: 2017-07

Variant appearance in text: KRAS: 15A>T; K5N

PubMed Link: 28685087

Variant Present in the following documents:

• Main text

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: 15A>T; Lys5Asn

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: KRAS: 15A>T

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

---

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: KRAS: K5N

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

View BVdb publication page

---

Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Genome Medicine

Ryland, Georgina L GL; Hunter, Sally M SM; Doyle, Maria A MA; Caramia, Franco F; Li, Jason J; Rowley, Simone M SM; Christie, Michael M; Allan, Prue E PE; Stephens, Andrew N AN; Bowtell, David D L DD; , ; Campbell, Ian G IG; Gorringe, Kylie L KL

Publication Date: 2015

Variant appearance in text: KRAS: 15A>T

PubMed Link: 26257827

Variant Present in the following documents:

• 13073_2015_210_MOESM1_ESM.xlsx, sheet 6

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: Lys5Asn

PubMed Link: 24382853

Variant Present in the following documents:

• Main text
• CroatMedJ_54_0574.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

---