Table of Contents

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).1

Relevance tier by entity

Entity Tier Description
BL 2 Role of PRDM1 mutations in BL requires confirmation
DLBCL 1 High-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

Entity Collection N mutated Incidence 95% CI
DLBCL GAMBL without Reddy 1,089 97 0.0891 [0.0722,0.106]
DLBCL GAMBL with Reddy 2,088 151 0.0723 [0.0612,0.0834]
DLBCL BC 231 21 0.0909 [0.0538,0.128]
DLBCL Dana-Farber 303 23 0.0759 [0.0461,0.1057]
DLBCL NCI 470 48 0.1021 [0.0748,0.1295]
DLBCL Reddy 999 54 0.0541 [0.04,0.0681]
DLBCL DLBCL_ICGC 85 5 0.0588 [0.0088,0.1088]

BL

pathology Collection N mutated Incidence CI
BL GAMBL without Panea 309 3 0.0060 [0,0.0145]
BL GAMBL without ICGC/Zhou 320 7 0.0065 [0,0.0153]
BL GAMBL with Panea 410 9 0.0077 [0,0.0162]
BL BLGSP 219 1 0.0046 [0,0.0135]
BL Zhou/ICGC 90 2 0.0222 [0,0.0527]
BL Panea 101 6 0.0594 [0.0133,0.1055]

Mutation pattern and selective pressure estimates

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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

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Expression

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References

1.
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.
2.
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
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

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