Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: CDKN2A: 430C>T; R144C

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

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Pancreatic Tumorigenesis: Precursors, Genetic Risk Factors and Screening.

Current Oncology (Toronto, Ont.)

Badheeb, Mohamed M; Abdelrahim, Adham A; Esmail, Abdullah A; Umoru, Godsfavour G; Abboud, Karen K; Al-Najjar, Ebtesam E; Rasheed, Ghaith G; Alkhulaifawi, Mohammed M; Abudayyeh, Ala A; Abdelrahim, Maen M

Publication Date: 2022-11-15

Variant appearance in text: CDKN2A: R144C

PubMed Link: 36421339

Variant Present in the following documents:

• Main text
• curroncol-29-00686.pdf

View BVdb publication page

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Analysis of 5-Azacytidine Resistance Models Reveals a Set of Targetable Pathways.

Cells

Minařík, Lubomír L; Pimková, Kristýna K; Kokavec, Juraj J; Schaffartziková, Adéla A; Vellieux, Fréderic F; Kulvait, Vojtěch V; Daumová, Lenka L; Dusilková, Nina N; Jonášová, Anna A; Vargová, Karina Savvulidi KS; Králová Viziová, Petra P; Sedláček, Radislav R; Zemanová, Zuzana Z; Stopka, Tomáš T

Publication Date: 2022-01-11

Variant appearance in text: CDKN2A: 430C>T; R144C

PubMed Link: 35053339

Variant Present in the following documents:

• cells-11-00223.pdf

View BVdb publication page

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Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Elife

Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; Roberts, Nicholas Jason NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 430C>T; Arg144Cys

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137.pdf
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

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Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Elife

Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; , ; Roberts, Nicholas J NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 430C>T; Arg144Cys

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137.pdf
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

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The LOVD3 platform: efficient genome-wide sharing of genetic variants.

European Journal Of Human Genetics : Ejhg

Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT

Publication Date: 2021-12

Variant appearance in text: CDKN2A: 430C>T; Arg144Cys

PubMed Link: 34521998

Variant Present in the following documents:

• 41431_2021_959_MOESM4_ESM.pdf

View BVdb publication page

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The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia.

Pharmacogenetics And Genomics

Li, Chunjie C; Zhao, Xinying X; He, Yingyi Y; Li, Ziping Z; Qian, Jiabi J; Zhang, Li L; Ye, Qian Q; Qiu, Fei F; Lian, Peng P; Qian, Maoxiang M; Zhang, Hui H

Publication Date: 2022-02-01

Variant appearance in text: rs116150891

PubMed Link: 34369425

Variant Present in the following documents:

• pgen-32-43-s001.pdf

View BVdb publication page

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The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia.

Pharmacogenetics And Genomics

Li, Chunjie C; Zhao, Xinying X; He, Yingyi Y; Li, Ziping Z; Qian, Jiabi J; Zhang, Li L; Ye, Qian Q; Qiu, Fei F; Lian, Peng P; Qian, Maoxiang M; Zhang, Hui H

Publication Date: 2021-08-06

Variant appearance in text: rs116150891

PubMed Link: 34369425

Variant Present in the following documents:

• pgen-32-43-s001.pdf

View BVdb publication page

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A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.

International Journal Of Molecular Sciences

De Simone, Paola P; Bottillo, Irene I; Valiante, Michele M; Iorio, Alessandra A; De Bernardo, Carmelilia C; Majore, Silvia S; D'Angelantonio, Daniela D; Valentini, Tiziana T; Sperduti, Isabella I; Piemonte, Paolo P; Eibenschutz, Laura L; Ferrari, Angela A; Carbone, Anna A; Buccini, Pierluigi P; Paiardini, Alessandro A; Silipo, Vitaliano V; Frascione, Pasquale P; Grammatico, Paola P

Publication Date: 2020-12-11

Variant appearance in text: CDKN2A: 430C>T

PubMed Link: 33322357

Variant Present in the following documents:

• Main text
• ijms-21-09432.pdf

View BVdb publication page

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Phenotypic profiling with a living biobank of primary rhabdomyosarcoma unravels disease heterogeneity and AKT sensitivity.

Nature Communications

Manzella, Gabriele G; Schreck, Leonie D LD; Breunis, Willemijn B WB; Molenaar, Jan J; Merks, Hans H; Barr, Frederic G FG; Sun, Wenyue W; Römmele, Michaela M; Zhang, Luduo L; Tchinda, Joelle J; Ngo, Quy A QA; Bode, Peter P; Delattre, Olivier O; Surdez, Didier D; Rekhi, Bharat B; Niggli, Felix K FK; Schäfer, Beat W BW; Wachtel, Marco M

Publication Date: 2020-09-15

Variant appearance in text: CDKN2A: R144C

PubMed Link: 32934208

Variant Present in the following documents:

• 41467_2020_Article_18388.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: CDKN2A: 430C>T; R144C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: CDKN2A: R144C

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: CDKN2A: 430C>T; Arg144Cys; rs116150891

PubMed Link: 28944238

Variant Present in the following documents:

• Main text
• MGG3-5-553-s002.xlsx, sheet 2
• MGG3-5-553.pdf

View BVdb publication page

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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: CDKN2A: 430C>T; Arg144Cys

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Tung, Nadine N; Lin, Nancy U NU; Kidd, John J; Allen, Brian A BA; Singh, Nanda N; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Winer, Eric P EP; Garber, Judy E JE

Publication Date: 2016-05-01

Variant appearance in text: CDKN2A: 430C>T; Arg144Cys

PubMed Link: 26976419

Variant Present in the following documents:

• Main text

View BVdb publication page

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Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

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

Puig, Susana S; Potrony, Miriam M; Cuellar, Francisco F; Puig-Butille, Joan Anton JA; Carrera, Cristina C; Aguilera, Paula P; Nagore, Eduardo E; Garcia-Casado, Zaida Z; Requena, Celia C; Kumar, Rajiv R; Landman, Gilles G; Costa Soares de Sá, Bianca B; Gargantini Rezze, Gisele G; Facure, Luciana L; de Avila, Alexandre Leon Ribeiro AL; Achatz, Maria Isabel MI; Carraro, Dirce Maria DM; Duprat Neto, João Pedreira JP; Grazziotin, Thais C TC; Bonamigo, Renan R RR; Rey, Maria Carolina W MC; Balestrini, Claudia C; Morales, Enrique E; Molgo, Montserrat M; Bakos, Renato Marchiori RM; Ashton-Prolla, Patricia P; Giugliani, Roberto R; Larre Borges, Alejandra A; Barquet, Virginia V; Pérez, Javiera J; Martínez, Miguel M; Cabo, Horacio H; Cohen Sabban, Emilia E; Latorre, Clara C; Carlos-Ortega, Blanca B; Salas-Alanis, Julio C JC; Gonzalez, Roger R; Olazaran, Zulema Z; Malvehy, Josep J; Badenas, Celia C

Publication Date: 2016-07

Variant appearance in text: CDKN2A: 430C>T

PubMed Link: 26681309

Variant Present in the following documents:

• Main text
• gim2015160a.pdf

View BVdb publication page

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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: CDKN2A: R144C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: CDKN2A: R144C; rs116150891

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Inherited pancreatic cancer syndromes.

Cancer Journal (Sudbury, Mass.)

Solomon, Sheila S; Das, Siddhartha S; Brand, Randall R; Whitcomb, David C DC

Publication Date: 2012

Variant appearance in text: CDKN2A: R144C

PubMed Link: 23187834

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal Of The National Cancer Institute

Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,

Publication Date: 2010-10-20

Variant appearance in text: p14ARF: 430C>T

PubMed Link: 20876876

Variant Present in the following documents:

• supp_djq363_JNCI-09-1449R-Suppl_tables.pdf

View BVdb publication page

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