MMP17 c.232C>A ;(p.L78M)

Variant ID: 12-132322812-C-A

NM_016155.4(MMP17):c.232C>A;(p.L78M)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: MMP17: 232C>A; L78M
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: MMP17: L78M
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 44
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: MMP17: L78M; rs143543400
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 6
  • 41467_2017_2688_MOESM20_ESM.xlsx, sheet 4
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 4
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs143543400
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: MMP17: 232C>A; L78M; rs143543400
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in MAP3K6 are associated with familial gastric cancer.

Plos Genetics
Gaston, Daniel D; Hansford, Samantha S; Oliveira, Carla C; Nightingale, Mathew M; Pinheiro, Hugo H; Macgillivray, Christine C; Kaurah, Pardeep P; Rideout, Andrea L AL; Steele, Patricia P; Soares, Gabriela G; Huang, Weei-Yuarn WY; Whitehouse, Scott S; Blowers, Sarah S; LeBlanc, Marissa A MA; Jiang, Haiyan H; Greer, Wenda W; Samuels, Mark E ME; Orr, Andrew A; Fernandez, Conrad V CV; Majewski, Jacek J; Ludman, Mark M; Dyack, Sarah S; Penney, Lynette S LS; McMaster, Christopher R CR; Huntsman, David D; Bedard, Karen K
Publication Date: 2014-10

Variant appearance in text: MMP17: L78M; rs143543400
PubMed Link: 25340522
Variant Present in the following documents:
  • pgen.1004669.s004.xlsx, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: MMP17: L78M
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page