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@ARTICLE{McMaster:141114,
author = {M. L. McMaster and S. I. Berndt and J. Zhang and S. L.
Slager and S. A. Li and C. M. Vajdic and K. E. Smedby and H.
Yan and B. M. Birmann and E. E. Brown and A. Smith and G.
Kleinstern and M. M. Fansler and C. Mayr and B. Zhu and C.
C. Chung and J.-H. Park and L. Burdette and B. D. Hicks and
A. Hutchinson and L. R. Teras and H.-O. Adami and P. M.
Bracci and J. McKay and A. Monnereau and B. K. Link and R.
C. H. Vermeulen and S. M. Ansell and A. Maria and W. R.
Diver and M. Melbye and A. I. Ojesina and P. Kraft and P.
Boffetta and J. Clavel and E. Giovannucci and C. M. Besson
and F. Canzian$^*$ and R. C. Travis and P. Vineis and E.
Weiderpass and R. Montalvan and Z. Wang and M. Yeager and N.
Becker$^*$ and Y. Benavente and P. Brennan and L. Foretova
and M. Maynadie and A. Nieters and S. de Sanjose and A.
Staines and L. Conde and J. Riby and B. Glimelius and H.
Hjalgrim and N. Pradhan and A. L. Feldman and A. J. Novak
and C. Lawrence and B. A. Bassig and Q. Lan and T. Zheng and
K. E. North and L. F. Tinker and W. Cozen and R. K. Severson
and J. N. Hofmann and Y. Zhang and R. D. Jackson and L. M.
Morton and M. P. Purdue and N. Chatterjee and K. Offit and
J. R. Cerhan and S. J. Chanock and N. Rothman and J. Vijai
and L. R. Goldin and C. F. Skibola and N. E. Caporaso},
title = {{T}wo high-risk susceptibility loci at 6p25.3 and 14q32.13
for {W}aldenström macroglobulinemia.},
journal = {Nature Communications},
volume = {9},
number = {1},
issn = {2041-1723},
address = {[London]},
publisher = {Nature Publishing Group UK},
reportid = {DKFZ-2018-01648},
pages = {4182},
year = {2018},
abstract = {Waldenström macroglobulinemia (WM)/lymphoplasmacytic
lymphoma (LPL) is a rare, chronic B-cell lymphoma with high
heritability. We conduct a two-stage genome-wide association
study of WM/LPL in 530 unrelated cases and 4362 controls of
European ancestry and identify two high-risk loci associated
with WM/LPL at 6p25.3 (rs116446171, near EXOC2 and IRF4;
OR = 21.14, $95\%$ CI: 14.40-31.03,
P = 1.36 × 10-54) and 14q32.13 (rs117410836, near
TCL1; OR = 4.90, $95\%$ CI: 3.45-6.96,
P = 8.75 × 10-19). Both risk alleles are observed
at a low frequency among controls $(~2-3\%)$ and occur in
excess in affected cases within families. In silico data
suggest that rs116446171 may have functional importance, and
in functional studies, we demonstrate increased reporter
transcription and proliferation in cells transduced with the
6p25.3 risk allele. Although further studies are needed to
fully elucidate underlying biological mechanisms, together
these loci explain $4\%$ of the familial risk and provide
insights into genetic susceptibility to this malignancy.},
cin = {C055 / C020},
ddc = {500},
cid = {I:(DE-He78)C055-20160331 / I:(DE-He78)C020-20160331},
pnm = {313 - Cancer risk factors and prevention (POF3-313)},
pid = {G:(DE-HGF)POF3-313},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:30305637},
pmc = {pmc:PMC6180091},
doi = {10.1038/s41467-018-06541-2},
url = {https://inrepo02.dkfz.de/record/141114},
}