Imperial College London


Faculty of Natural SciencesDepartment of Life Sciences

Director Centre for Bioinformatics



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BibTex format

author = {Scales, M and Chubb, D and Dobbins, SE and Johnson, DC and Li, N and Sternberg, MJ and Weinhold, N and Stein, C and Jackson, G and Davies, FE and Walker, BA and Wardell, CP and Houlston, RS and Morgan, GJ},
doi = {10.18632/oncotarget.15874},
journal = {Oncotarget},
pages = {36203--36210},
title = {Search for rare protein altering variants influencing susceptibility to multiple myeloma},
url = {},
volume = {8},
year = {2017}

RIS format (EndNote, RefMan)

AB - The genetic basis underlying the inherited risk of developing multiple myeloma (MM) is largely unknown. To examine the impact of rare protein altering variants on the risk of developing MM we analyzed high-coverage exome sequencing data on 513 MM cases and 1,569 healthy controls, performing both single variant and gene burden tests. We did not identify any recurrent coding low-frequency alleles (1–5%) with moderate effect that were statistically associated with MM. In a gene burden analysis we did however identify a promising relationship between variation in the marrow kinetochore microtubule stromal gene KIF18A, which plays a role in control mitotic chromosome positioning dynamics, and risk of MM (P =3.6x10−6). Further analysis showed KIF18A displays a distinct pattern of expression across molecular subgroups of MM as well as being associated with patient survival. Our results inform future study design and provide a resource for contextualizing the impact of candidate MM susceptibility genes.
AU - Scales,M
AU - Chubb,D
AU - Dobbins,SE
AU - Johnson,DC
AU - Li,N
AU - Sternberg,MJ
AU - Weinhold,N
AU - Stein,C
AU - Jackson,G
AU - Davies,FE
AU - Walker,BA
AU - Wardell,CP
AU - Houlston,RS
AU - Morgan,GJ
DO - 10.18632/oncotarget.15874
EP - 36210
PY - 2017///
SN - 1949-2553
SP - 36203
TI - Search for rare protein altering variants influencing susceptibility to multiple myeloma
T2 - Oncotarget
UR -
UR -
UR -
VL - 8
ER -