CDH6 c.1571C>T ;(p.S524L)

Variant ID: 5-31317540-C-T

NM_004932.3(CDH6):c.1571C>T;(p.S524L)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


A novel integrated approach to predicting cancer immunotherapy efficacy.

Oncogene
Luo, Ruihan R; Chyr, Jacqueline J; Wen, Jianguo J; Wang, Yanfei Y; Zhao, Weiling W; Zhou, Xiaobo X
Publication Date: 2023-04-26

Variant appearance in text: CDH6: S524L
PubMed Link: 37100920
Variant Present in the following documents:
  • 41388_2023_2670_MOESM1_ESM.pdf
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CDH6: 1571C>T; Ser524Leu
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-05-10

Variant appearance in text: CDH6: S524L
PubMed Link: 35538087
Variant Present in the following documents:
  • 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications
Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R
Publication Date: 2022-02-23

Variant appearance in text: CDH6: S524L
PubMed Link: 35197475
Variant Present in the following documents:
  • 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: CDH6: S524L
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: CDH6: 1571C>T; S524L; rs202247793
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CDH6: 1571C>T; S524L
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Somatic mutational landscapes of adherens junctions and their functional consequences in cutaneous melanoma development.

Theranostics
Korla, Praveen Kumar PK; Chen, Chih-Chieh CC; Gracilla, Daniel Esguerra DE; Lai, Ming-Tsung MT; Chen, Chih-Mei CM; Chen, Huan Yuan HY; Hwang, Tritium T; Chen, Shih-Yin SY; Sheu, Jim Jinn-Chyuan JJ
Publication Date: 2020

Variant appearance in text: CDH6: S524L
PubMed Link: 33204327
Variant Present in the following documents:
  • Main text
  • thnov10p12026.pdf
View BVdb publication page



Analysis of CRISPR-Cas9 screens identifies genetic dependencies in melanoma.

Pigment Cell & Melanoma Research
Christodoulou, Eirini E; Rashid, Mamunur M; Pacini, Clare C; Droop, Alastair A; Robertson, Holly H; Groningen, Tim van TV; Teunisse, Amina F A S AFAS; Iorio, Francesco F; Jochemsen, Aart G AG; Adams, David J DJ; Doorn, Remco van RV
Publication Date: 2021-01

Variant appearance in text: CDH6: S524L
PubMed Link: 32767816
Variant Present in the following documents:
  • PCMR-34-122-s006.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: CDH6: 1571C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



neoANT-HILL: an integrated tool for identification of potential neoantigens.

Bmc Medical Genomics
Coelho, Ana Carolina M F ACMF; Fonseca, André L AL; Martins, Danilo L DL; Lins, Paulo B R PBR; da Cunha, Lucas M LM; de Souza, Sandro J SJ
Publication Date: 2020-02-22

Variant appearance in text: CDH6: S524L
PubMed Link: 32087727
Variant Present in the following documents:
  • Main text
  • 12920_2020_Article_694.pdf
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: CDH6: S524L
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine
Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D
Publication Date: 2019-12

Variant appearance in text: CDH6: 1571C>T
PubMed Link: 31792460
Variant Present in the following documents:
  • 41591_2019_654_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification and ranking of recurrent neo-epitopes in cancer.

Bmc Medical Genomics
Blanc, Eric E; Holtgrewe, Manuel M; Dhamodaran, Arunraj A; Messerschmidt, Clemens C; Willimsky, Gerald G; Blankenstein, Thomas T; Beule, Dieter D
Publication Date: 2019-11-27

Variant appearance in text: CDH6: S524L
PubMed Link: 31775766
Variant Present in the following documents:
  • 12920_2019_611_MOESM1_ESM.xlsx, sheet 1
  • 12920_2019_611_MOESM2_ESM.xlsx, sheet 1
  • 12920_2019_611_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: CDH6: S524L
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page



Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine
Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R
Publication Date: 2017

Variant appearance in text: CDH6: S524L; rs202247793
PubMed Link: 29263839
Variant Present in the following documents:
  • 41525_2017_32_MOESM8_ESM.xlsx, sheet 6
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CDH6: 1571C>T; S524L
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 2
View BVdb publication page



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: CDH6: 1571C>T; S524L
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
View BVdb publication page



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: CDH6: 1571C>T; S524L
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Nature Genetics
Krauthammer, Michael M; Kong, Yong Y; Ha, Byung Hak BH; Evans, Perry P; Bacchiocchi, Antonella A; McCusker, James P JP; Cheng, Elaine E; Davis, Matthew J MJ; Goh, Gerald G; Choi, Murim M; Ariyan, Stephan S; Narayan, Deepak D; Dutton-Regester, Ken K; Capatana, Ana A; Holman, Edna C EC; Bosenberg, Marcus M; Sznol, Mario M; Kluger, Harriet M HM; Brash, Douglas E DE; Stern, David F DF; Materin, Miguel A MA; Lo, Roger S RS; Mane, Shrikant S; Ma, Shuangge S; Kidd, Kenneth K KK; Hayward, Nicholas K NK; Lifton, Richard P RP; Schlessinger, Joseph J; Boggon, Titus J TJ; Halaban, Ruth R
Publication Date: 2012-09

Variant appearance in text: CDH6: S524L
PubMed Link: 22842228
Variant Present in the following documents:
  • NIHMS390374-supplement-1.pdf
View BVdb publication page