Publications:

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Prevalence of Germline Mutations in Cancer Predisposition Genes in Patients with Pancreatic Cancer or Suspected Related Hereditary Syndromes: Historical Prospective Analysis.

Cancers

Dal Buono, Arianna A; Poliani, Laura L; Greco, Luana L; Bianchi, Paolo P; Barile, Monica M; Giatti, Valentina V; Bonifacio, Cristiana C; Carrara, Silvia S; Malesci, Alberto A; Laghi, Luigi L

Publication Date: 2023-03-20

Variant appearance in text: CDKN2A: 71G>C; Arg24Pro

PubMed Link: 36980738

Variant Present in the following documents:

• cancers-15-01852.pdf

View BVdb publication page

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Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.

Esmo Open

Bruno, W W; Dalmasso, B B; Barile, M M; Andreotti, V V; Elefanti, L L; Colombino, M M; Vanni, I I; Allavena, E E; Barbero, F F; Passoni, E E; Merelli, B B; Pellegrini, S S; Morgese, F F; Danesi, R R; Calò, V V; Bazan, V V; D'Elia, A V AV; Molica, C C; Gensini, F F; Sala, E E; Uliana, V V; Soma, P F PF; Genuardi, M M; Ballestrero, A A; Spagnolo, F F; Tanda, E E; Queirolo, P P; Mandalà, M M; Stanganelli, I I; Palmieri, G G; Menin, C C; , ; Pastorino, L L; Ghiorzo, P P

Publication Date: 2022-08

Variant appearance in text: CDKN2A: Arg24Pro

PubMed Link: 35777164

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Pharmacogenetics of hepatocellular carcinoma and cholangiocarcinoma.

Cancer Drug Resistance (Alhambra, Calif.)

Alonso-Peña, Marta M; Sanchez-Martin, Anabel A; Sanchon-Sanchez, Paula P; Soto-Muñiz, Meraris M; Espinosa-Escudero, Ricardo R; Marin, Jose J G JJG

Publication Date: 2019

Variant appearance in text: CDKN2A: Arg24Pro

PubMed Link: 35582588

Variant Present in the following documents:

• Main text
• cdr-2-680.pdf

View BVdb publication page

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Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Human Molecular Genetics

Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD

Publication Date: 2022-08-25

Variant appearance in text: CDKN2A: 71G>C; Arg24Pro; rs104894097

PubMed Link: 35357426

Variant Present in the following documents:

• supplementary_table_5_ddac074.xlsx, sheet 1

View BVdb publication page

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Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.

Journal Of Otolaryngology - Head & Neck Surgery = Le Journal D'Oto-Rhino-Laryngologie Et De Chirurgie Cervico-Faciale

Jeong, Ah-Reum AR; Forbes, Kimberly K; Orosco, Ryan K RK; Cohen, Ezra E W EEW

Publication Date: 2022-02-05

Variant appearance in text: CDKN2A: 71G>C

PubMed Link: 35123577

Variant Present in the following documents:

• Main text
• 40463_2022_Article_556.pdf

View BVdb publication page

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Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.

Journal Of Otolaryngology - Head & Neck Surgery = Le Journal D'Oto-Rhino-Laryngologie Et De Chirurgie Cervico-Faciale

Jeong, Ah-Reum AR; Forbes, Kimberly K; Orosco, Ryan K RK; Cohen, Ezra E W EEW

Publication Date: 2022-02-05

Variant appearance in text: CDKN2A: 71G>C

PubMed Link: 35123577

Variant Present in the following documents:

• Main text
• 40463_2022_Article_556.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: 71G>C; Arg24Pro

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137-supp3.xlsx, sheet 1
• 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: 71G>C; Arg24Pro

PubMed Link: 35001868

Variant Present in the following documents:

• Main text
• elife-71137-supp3.xlsx, sheet 1
• elife-71137.pdf
• elife-71137-supp1.xlsx, sheet 1

View BVdb publication page

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Study on Early Onset Melanoma and Germ-Line Mutation in CDKN2A among Patients in Imam Khomeini Hospital Complex.

Asian Pacific Journal Of Cancer Prevention : Apjcp

Ferdosi, Samira S; Saffari, Mojtaba M; Alishahi, Razieh R; Ghanadan, Alireza A; Shirkohi, Reza R

Publication Date: 2021-10-01

Variant appearance in text: CDKN2A: R24P

PubMed Link: 34711012

Variant Present in the following documents:

• Main text
• APJCP-22-3347.pdf

View BVdb publication page

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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: CDKN2A: R24P

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Genes

Vergani, Elisabetta E; Frigerio, Simona S; Dugo, Matteo M; Devecchi, Andrea A; Feltrin, Erika E; De Cecco, Loris L; Vallacchi, Viviana V; Cossa, Mara M; Di Guardo, Lorenza L; Manoukian, Siranoush S; Peissel, Bernard B; Ferrari, Andrea A; Gallino, Gianfrancesco G; Maurichi, Andrea A; Rivoltini, Licia L; Sensi, Marialuisa M; Rodolfo, Monica M

Publication Date: 2021-09-18

Variant appearance in text: CDKN2A: R24P

PubMed Link: 34573422

Variant Present in the following documents:

• Main text
• genes-12-01440.pdf

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: 71G>C; Arg24Pro

PubMed Link: 34521998

Variant Present in the following documents:

• 41431_2021_959_MOESM4_ESM.pdf

View BVdb publication page

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Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: rs104894097

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Hereditary Cancer In Clinical Practice

Chan, Sock Hoai SH; Chiang, Jianbang J; Ngeow, Joanne J

Publication Date: 2021-03-25

Variant appearance in text: CDKN2A: 71G>C

PubMed Link: 33766116

Variant Present in the following documents:

• Main text
• 13053_2021_Article_178.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: 71G>C

PubMed Link: 33322357

Variant Present in the following documents:

• Main text
• ijms-21-09432.pdf

View BVdb publication page

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CDKN2A Polymorphism in Melanoma Patients in Colombian Population: A Case-Control Study.

Biomed Research International

Tovar-Parra, Jose D JD; Gutiérrez-Castañeda, Luz D LD; Gil-Quiñones, Sebastián R SR; Nova, Jhon A JA; Pulido, Leonardo L

Publication Date: 2020

Variant appearance in text: CDKN2A: 71G>C; rs104894097

PubMed Link: 33102592

Variant Present in the following documents:

• Main text
• BMRI2020-7458917.pdf

View BVdb publication page

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Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.

Biomolecules

Ming, Zizhen Z; Lim, Su Yin SY; Rizos, Helen H

Publication Date: 2020-10-15

Variant appearance in text: INK4a: Arg24Pro

PubMed Link: 33076392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Biomedicines

Stolarova, Lenka L; Jelinkova, Sandra S; Storchova, Radka R; Machackova, Eva E; Zemankova, Petra P; Vocka, Michal M; Kodet, Ondrej O; Kral, Jan J; Cerna, Marta M; Volkova, Zuzana Z; Janatova, Marketa M; Soukupova, Jana J; Stranecky, Viktor V; Dundr, Pavel P; Foretova, Lenka L; Macurek, Libor L; Kleiblova, Petra P; Kleibl, Zdenek Z

Publication Date: 2020-10-09

Variant appearance in text: CDKN2A: 71G>C

PubMed Link: 33050356

Variant Present in the following documents:

• Main text
• biomedicines-08-00404.pdf

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: CDKN2A: R24P

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.

Journal Of Medical Genetics

Overbeek, Kasper A KA; Rodríguez-Girondo, Mar Dm MD; Wagner, Anja A; van der Stoep, Nienke N; van den Akker, Peter C PC; Oosterwijk, Jan C JC; van Os, Theo A TA; van der Kolk, Lizet E LE; Vasen, Hans F A HFA; Hes, Frederik J FJ; Cahen, Djuna L DL; Bruno, Marco J MJ; Potjer, Thomas P TP

Publication Date: 2021-04

Variant appearance in text: p14ARF: 71G>C

PubMed Link: 32482799

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106562.pdf

View BVdb publication page

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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: CDKN2A: R24P

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.

Jco Precision Oncology

Hu, Chunling C; LaDuca, Holly H; Shimelis, Hermela H; Polley, Eric C EC; Lilyquist, Jenna J; Hart, Steven N SN; Na, Jie J; Thomas, Abigail A; Lee, Kun Y KY; Davis, Brigette Tippin BT; Black, Mary Helen MH; Pesaran, Tina T; Goldgar, David E DE; Dolinsky, Jill S JS; Couch, Fergus J FJ

Publication Date: 2018

Variant appearance in text: CDKN2A: 71G>C; Arg24Pro

PubMed Link: 31497750

Variant Present in the following documents:

• Main text
• PO.17.00291.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: 71G>C; R24P

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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Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer

Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,

Publication Date: 2019-08-05

Variant appearance in text: CDKN2A: R24P

PubMed Link: 31382929

Variant Present in the following documents:

• Main text
• 12885_2019_5984_MOESM1_ESM.pdf
• 12885_2019_Article_5984.pdf

View BVdb publication page

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One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Journal Of Medical Genetics

Fostira, Florentia F; Kostantopoulou, Irene I; Apostolou, Paraskevi P; Papamentzelopoulou, Myrto S MS; Papadimitriou, Christos C; Faliakou, Eleni E; Christodoulou, Christos C; Boukovinas, Ioannis I; Razis, Evangelia E; Tryfonopoulos, Dimitrios D; Barbounis, Vasileios V; Vagena, Andromache A; Vlachos, Ioannis S IS; Kalfakakou, Despoina D; Fountzilas, George G; Yannoukakos, Drakoulis D

Publication Date: 2020-01

Variant appearance in text: CDKN2A: 71G>C; Arg24Pro

PubMed Link: 31300551

Variant Present in the following documents:

• jmedgenet-2019-106189supp004.pdf

View BVdb publication page

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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: CDKN2A: 71G>C; Arg24Pro

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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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: CDKN2A: R24P; rs104894097

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Nature Communications

, ; Del-Toro, N N; Duesbury, M M; Koch, M M; Perfetto, L L; Shrivastava, A A; Ochoa, D D; Wagih, O O; Piñero, J J; Kotlyar, M M; Pastrello, C C; Beltrao, P P; Furlong, L I LI; Jurisica, I I; Hermjakob, H H; Orchard, S S; Porras, P P

Publication Date: 2019-01-02

Variant appearance in text: CMM2: R24P

PubMed Link: 30602777

Variant Present in the following documents:

• 41467_2018_7709_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica

Karagianni, Fani F; Njauw, Ching-Ni CN; Kypreou, Katerina P KP; Stergiopoulou, Aravela A; Plaka, Michaela M; Polydorou, Dorothea D; Chasapi, Vasiliki V; Pappas, Leontios L; Stratigos, Ioannis A IA; Champsas, Gregory G; Panagiotou, Peter P; Gogas, Helen H; Evangelou, Evangelos E; Tsao, Hensin H; Stratigos, Alexander J AJ; Stefanaki, Irene I

Publication Date: 2018-10-10

Variant appearance in text: CDKN2A: R24P

PubMed Link: 29774366

Variant Present in the following documents:

• Main text
• nihms-1016697.pdf

View BVdb publication page

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Germline Variants in the POT1-Gene in High-Risk Melanoma Patients in Austria.

G3 (Bethesda, Md.)

Müller, Christoph C; Krunic, Milica M; Wendt, Judith J; von Haeseler, Arndt A; Okamoto, Ichiro I

Publication Date: 2018-05-04

Variant appearance in text: CDKN2A: R24P

PubMed Link: 29523635

Variant Present in the following documents:

• 1475.pdf

View BVdb publication page

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Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms.

Journal Of The National Cancer Institute

Lowery, Maeve A MA; Wong, Winston W; Jordan, Emmet J EJ; Lee, Jonathan W JW; Kemel, Yelena Y; Vijai, Joseph J; Mandelker, Diana D; Zehir, Ahmet A; Capanu, Marinela M; Salo-Mullen, Erin E; Arnold, Angela G AG; Yu, Kenneth H KH; Varghese, Anna M AM; Kelsen, David P DP; Brenner, Robin R; Kaufmann, Erica E; Ravichandran, Vignesh V; Mukherjee, Semanti S; Berger, Michael F MF; Hyman, David M DM; Klimstra, David S DS; Abou-Alfa, Ghassan K GK; Tjan, Catherine C; Covington, Christina C; Maynard, Hannah H; Allen, Peter J PJ; Askan, Gokce G; Leach, Steven D SD; Iacobuzio-Donahue, Christine A CA; Robson, Mark E ME; Offit, Kenneth K; Stadler, Zsofia K ZK; O'Reilly, Eileen M EM

Publication Date: 2018-10-01

Variant appearance in text: CDKN2A: 71G>C; Arg24Pro

PubMed Link: 29506128

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: CDKN2A: 71G>C; R24P

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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A novel molecular diagnostics platform for somatic and germline precision oncology.

Molecular Genetics & Genomic Medicine

Cabanillas, Rubén R; Diñeiro, Marta M; Castillo, David D; Pruneda, Patricia C PC; Penas, Cristina C; Cifuentes, Guadalupe A GA; de Vicente, Álvaro Á; Durán, Noelia S NS; Álvarez, Rebeca R; Ordóñez, Gonzalo R GR; Cadiñanos, Juan J

Publication Date: 2017-07

Variant appearance in text: CDKN2A: 71G>C; R24P

PubMed Link: 28717660

Variant Present in the following documents:

• Main text
• MGG3-5-336.pdf

View BVdb publication page

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Capecitabine and Celecoxib as a Promising Therapy for Thymic Neoplasms.

American Journal Of Clinical Oncology

Wood, Kevin K; Byron, Elizabeth E; Janisch, Linda L; Salgia, Ravi R; Sharma, Manish R MR

Publication Date: 2018-10

Variant appearance in text: CDKN2A: R24P

PubMed Link: 28654574

Variant Present in the following documents:

• Main text

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: 71G>C; Arg24Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics

Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T

Publication Date: 2016-05-05

Variant appearance in text: rs104894097

PubMed Link: 27927232

Variant Present in the following documents:

• 13326_2016_57_MOESM1_ESM.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: CMM2: R24P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R24P

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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Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Nature Genetics

Schulze, Kornelius K; Imbeaud, Sandrine S; Letouzé, Eric E; Alexandrov, Ludmil B LB; Calderaro, Julien J; Rebouissou, Sandra S; Couchy, Gabrielle G; Meiller, Clément C; Shinde, Jayendra J; Soysouvanh, Frederic F; Calatayud, Anna-Line AL; Pinyol, Roser R; Pelletier, Laura L; Balabaud, Charles C; Laurent, Alexis A; Blanc, Jean-Frederic JF; Mazzaferro, Vincenzo V; Calvo, Fabien F; Villanueva, Augusto A; Nault, Jean-Charles JC; Bioulac-Sage, Paulette P; Stratton, Michael R MR; Llovet, Josep M JM; Zucman-Rossi, Jessica J

Publication Date: 2015-05

Variant appearance in text: CDKN2A: R24P

PubMed Link: 25822088

Variant Present in the following documents:

• NIHMS62359-supplement-Table3.xlsx, sheet 1

View BVdb publication page

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Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Hereditary Cancer In Clinical Practice

Harland, Mark M; Cust, Anne E AE; Badenas, Celia C; Chang, Yu-Mei YM; Holland, Elizabeth A EA; Aguilera, Paula P; Aitken, Joanne F JF; Armstrong, Bruce K BK; Barrett, Jennifer H JH; Carrera, Cristina C; Chan, May M; Gascoyne, Joanne J; Giles, Graham G GG; Agha-Hamilton, Chantelle C; Hopper, John L JL; Jenkins, Mark A MA; Kanetsky, Peter A PA; Kefford, Richard F RF; Kolm, Isabel I; Lowery, Johanna J; Malvehy, Josep J; Ogbah, Zighereda Z; Puig-Butille, Joan-Anton JA; Orihuela-Segalés, Jordi J; Randerson-Moor, Juliette A JA; Schmid, Helen H; Taylor, Claire F CF; Whitaker, Linda L; Bishop, D Timothy DT; Mann, Graham J GJ; Newton-Bishop, Julia A JA; Puig, Susana S

Publication Date: 2014

Variant appearance in text: CDKN2A: R24P

PubMed Link: 25780468

Variant Present in the following documents:

• Main text
• 13053_2014_Article_472.pdf
• 13053_2014_472_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

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

Zhen, David B DB; Rabe, Kari G KG; Gallinger, Steven S; Syngal, Sapna S; Schwartz, Ann G AG; Goggins, Michael G MG; Hruban, Ralph H RH; Cote, Michele L ML; McWilliams, Robert R RR; Roberts, Nicholas J NJ; Cannon-Albright, Lisa A LA; Li, Donghui D; Moyes, Kelsey K; Wenstrup, Richard J RJ; Hartman, Anne-Renee AR; Seminara, Daniela D; Klein, Alison P AP; Petersen, Gloria M GM

Publication Date: 2015-07

Variant appearance in text: CDKN2A: R24P

PubMed Link: 25356972

Variant Present in the following documents:

• Main text
• nihms632415.pdf

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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: 71G>C; R24P

PubMed Link: 23187834

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Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

The British Journal Of Dermatology

Nikolaou, V V; Kang, X X; Stratigos, A A; Gogas, H H; Latorre, M C MC; Gabree, M M; Plaka, M M; Njauw, C N CN; Kypreou, K K; Mirmigi, I I; Stefanaki, I I; Tsao, H H

Publication Date: 2011-12

Variant appearance in text: CDKN2A: 71G>C

PubMed Link: 21801156

Variant Present in the following documents:

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: CDKN2A: R24P

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling.

European Journal Of Human Genetics : Ejhg

McWilliams, Robert R RR; Wieben, Eric D ED; Rabe, Kari G KG; Pedersen, Katrina S KS; Wu, Yanhong Y; Sicotte, Hugues H; Petersen, Gloria M GM

Publication Date: 2011-04

Variant appearance in text: CDKN2A: R24P

PubMed Link: 21150883

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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: 71G>C

PubMed Link: 20876876

Variant Present in the following documents:

• supp_djq363_JNCI-09-1449R-Suppl_tables.pdf

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The p16(INK4A) tumor suppressor regulates cellular oxidative stress.

Oncogene

Jenkins, N C NC; Liu, T T; Cassidy, P P; Leachman, S A SA; Boucher, K M KM; Goodson, A G AG; Samadashwily, G G; Grossman, D D

Publication Date: 2011-01-20

Variant appearance in text: ARF: Arg24Pro

PubMed Link: 20838381

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The relative contributions of the p53 and pRb pathways in oncogene-induced melanocyte senescence.

Aging

Haferkamp, Sebastian S; Tran, Sieu L SL; Becker, Therese M TM; Scurr, Lyndee L LL; Kefford, Richard F RF; Rizos, Helen H

Publication Date: 2009-05-16

Variant appearance in text: INK4a: R24P

PubMed Link: 20157537

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Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Bmc Cancer

Casula, Milena M; Muggiano, Antonio A; Cossu, Antonio A; Budroni, Mario M; Caracò, Corrado C; Ascierto, Paolo A PA; Pagani, Elena E; Stanganelli, Ignazio I; Canzanella, Sergio S; Sini, Mariacristina M; Palomba, Grazia G; , ; Palmieri, Giuseppe G

Publication Date: 2009-10-03

Variant appearance in text: CDKN2A: Arg24Pro

PubMed Link: 19799798

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Coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations.

The Journal Of Investigative Dermatology

Jovanovic, Braslav B; Egyhazi, Suzanne S; Eskandarpour, Malihe M; Ghiorzo, Paola P; Palmer, Jane M JM; Bianchi Scarrà, Giovanna G; Hayward, Nicholas K NK; Hansson, Johan J

Publication Date: 2010-02

Variant appearance in text: CDKN2A: 71G>C

PubMed Link: 19759551

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p16INK4a-induced senescence is disabled by melanoma-associated mutations.

Aging Cell

Haferkamp, Sebastian S; Becker, Therese M TM; Scurr, Lyndee L LL; Kefford, Richard F RF; Rizos, Helen H

Publication Date: 2008-10

Variant appearance in text: INK4a: R24P

PubMed Link: 18843795

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Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.

Bmc Medical Genetics

Peric, Barbara B; Cerkovnik, Petra P; Novakovic, Srdjan S; Zgajnar, Janez J; Besic, Nikola N; Hocevar, Marko M

Publication Date: 2008-09-19

Variant appearance in text: CDKN2A: R24P

PubMed Link: 18803811

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• Main text

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The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma.

British Journal Of Cancer

Lesueur, F F; de Lichy, M M; Barrois, M M; Durand, G G; Bombled, J J; Avril, M-F MF; Chompret, A A; Boitier, F F; Lenoir, G M GM; , ; Bressac-de Paillerets, B B; Baccard, Monique M; Bachollet, Bertrand B; Berthet, Pascaline P; Bonadona, Valérie V; Bonnetblanc, Jean-Marie JM; Caron, Olivier O; Chevrant-Breton, Jacqueline J; Cuny, Jean-François JF; Dalle, Stéphane S; Delaunay, Michèle M; Demange, Liliane L; De Quatrebarbes, Julie J; Doré, Jean-François JF; Frénay, Marc M; Fricker, Jean-Pierre JP; Gauthier-Villars, Marion M; Gesta, Paul P; Giraud, Sophie S; Gorry, Philippe P; Grange, Florent F; Green, Andrew A; Huiart, Laetitia L; Janin, Nicolas N; Joly, Pascal P; Kérob, Delphine D; Lasset, Christine C; Leroux, Dominique D; Limacher, Jean-Marc JM; Longy, Michel M; Mansard, Sandrine S; Marrou, Karine K; Martin-Denavit, Tanguy T; Mateus, Christine C; Maubec, Eve E; Olivier-Faivre, Laurence L; Orlandini, Vincent V; Pujol, Pascal P; Sassolas, Bruno B; Stoppa-Lyonnet, Dominique D; Thomas, Luc L; Vabres, Pierre P; Venat, Laurence L; Wierzbicka, Ewa E; Zattara, Hélène H

Publication Date: 2008-07-22

Variant appearance in text: CDKN2A: Arg24Pro

PubMed Link: 18612309

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