Table of Contents
Relevance tier by entity
Cannot include /table1_PRDM1.md - does not exist yet
Mutation incidence in large patient cohorts (GAMBL reanalysis)
Cannot include /DLBCL_PRDM1.md - does not exist yet
Cannot include /BL_PRDM1.md - does not exist yet
Mutation pattern and selective pressure estimates
Cannot include /dnds_PRDM1.md - does not exist yet
PRDM1 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr6 | 106536207 | T>A | C58* |
| chr6 | 106536207 | T>G | C58W |
| chr6 | 106536209 | C>T | T59I |
| chr6 | 106536256 | A>T | T75S |
| chr6 | 106536262 | G>T | V77F |
| chr6 | 106536324 | G>A | E97= |
| chr6 | 106536324 | G>C | E97D |
Cannot include /browser_PRDM1.md - does not exist yet
Expression
Cannot include /mermaid_PRDM1.md - does not exist yet
References
1.
Morin RD, Mungall K, Pleasance E, Mungall AJ,
Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC,
Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A,
Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL,
Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors
JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse
large B-cell lymphoma using whole-genome
sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992
2.
Pasqualucci L, Compagno M, Houldsworth J, Monti
S, Grunn A, Nandula SV, Aster JC, Murty VV, Shipp MA, Dalla-Favera R.
Inactivation of the PRDM1/BLIMP1 gene in
diffuse large B cell lymphoma. J Exp Med. 2006
Feb;203(2):311–317.
3.
Reddy A, Zhang J, Davis NS, Moffitt AB, Love
CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg
ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W,
Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y,
Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O,
Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB,
Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava
G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn
A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T,
Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional
Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017
Oct;171(2):481–494.e15. PMCID: PMC5659841
4.
Zhang J, Grubor V, Love CL, Banerjee A,
Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G,
Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C,
Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A,
Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J,
Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse
large B-cell lymphoma. Proceedings of the
National Academy of Sciences of the United States of America.
2013;110:1398–1403. PMCID: PMC3557051


