Publications:

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: CDKN2A: 379G>T; A127S

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.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: 379G>T; Ala127Ser

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 Jason NJ

Publication Date: 2022-01-10

Variant appearance in text: CDKN2A: 379G>T; Ala127Ser

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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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: 379G>T; Ala127Ser

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: CDKN2A: A127S

PubMed Link: 34369425

Variant Present in the following documents:

• Main text
• pgen-32-43-s001.pdf
• pgen-32-43.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: CDKN2A: A127S

PubMed Link: 34369425

Variant Present in the following documents:

• Main text
• pgen-32-43-s001.pdf
• pgen-32-43.pdf

View BVdb publication page

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Long-term disease control and survival observed after stereotactic ablative body radiotherapy for oligometastatic breast cancer.

Cancer Medicine

Wijetunga, N Ari NA; Dos Anjos, Carlos H CH; Zhi, W Iris WI; Robson, Mark M; Tsai, C Jillian CJ; Yamada, Yoshiya Y; Dover, Laura L; Gillespie, Erin F EF; Xu, Amy J AJ; Yang, Jonathan T JT

Publication Date: 2021-08

Variant appearance in text: rs6413464

PubMed Link: 34159748

Variant Present in the following documents:

• CAM4-10-5163-s001.xlsx, sheet 8

View BVdb publication page

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Comparing cell-free circulating tumor DNA mutational profiles of disease-free and nonresponders patients with oropharyngeal squamous cell carcinoma.

Laryngoscope Investigative Otolaryngology

Khandelwal, Alok R AR; Greer, Adam H AH; Hamiter, Mickie M; Fermin, Janmaris Marin JM; McMullen, Thomas T; Moore-Medlin, Tara T; Mills, Glenn G; Flores, Jose M JM; Yin, Hong H; Nathan, Cherie-Ann O CO

Publication Date: 2020-10

Variant appearance in text: CDKN2A: Ala127Ser

PubMed Link: 33134534

Variant Present in the following documents:

• Main text
• LIO2-5-868.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: 379G>T; A127S

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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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: 379G>T; Ala127Ser

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Ebiomedicine

Liu, Xiaoyu X; Liu, Lingxiao L; Ji, Yuan Y; Li, Changyu C; Wei, Tao T; Yang, Xuerong X; Zhang, Yuefang Y; Cai, Xuyu X; Gao, Yangbin Y; Xu, Weihong W; Rao, Shengxiang S; Jin, Dayong D; Lou, Wenhui W; Qiu, Zilong Z; Wang, Xiaolin X

Publication Date: 2019-03

Variant appearance in text: CDKN2A: A127S; rs6413464

PubMed Link: 30857943

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: CDKN2A: A127S

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1
• pgen.1007352.s009.xlsx, sheet 1

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: CDKN2A: 379G>T; A127S

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

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: 379G>T; Ala127Ser; rs6413464

PubMed Link: 28944238

Variant Present in the following documents:

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

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: 379G>T; Ala127Ser

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: CDKN2A: 379G>T; Ala127Ser; rs6413464

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: CDKN2A: A127S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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: p14ARF: A127S

PubMed Link: 26681309

Variant Present in the following documents:

• gim2015160a.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: A127S; rs6413464

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: CDKN2A: A127S

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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: A127S

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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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: A127S

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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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: CDKN2A: A127S; rs6413464

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: CDKN2A: A127S

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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: A127S; rs6413464

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: CDKN2A: A127S; rs6413464

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 2
• gkn1008_nar-01723-s-2008-File011.xls, sheet 2

View BVdb publication page

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