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. Author manuscript; available in PMC: 2018 Mar 1.
Published in final edited form as: Oral Oncol. 2017 Jan 9;66:38–45. doi: 10.1016/j.oraloncology.2016.12.011

Table 1.

Potential driver mutations identified in MAC via pair-end Exome sequencing.

Gene Alteration Alleles in blood/reads Alleles in tumor cells/reads Predominant in cancers Mutation type
FAT1 K3714X 0/0:236, 0:236 0/1:101,103:204 Head and neck squamous, diffuse large B-cell lymphoma Mostly nonsense/truncating
FAT1 E3653X 0/0:260,1:262 0/1:117,83:200
KDM6A W1258X 0/0:16,0:16 1/1:0,13:13 Bladder Mostly nonsense/truncating
KRAS G13D 0/0:92,0:92 0/1:41,32:73 Pancreatic, colorectal Recurrent hotspot in colorectal cancers and multiple myeloma
KMT2D S2438X 0/0:30,0:30 0/1:14,18:32 Bladder Mostly nonsense/truncating
NBEA R696X 0/0:12,0:12 0/1:3,9:12 Melanoma, colorectal, etc. Mosly missense
RELN G2110E 0/0:57,0:58 0/1:39,43:82 Melanoma, lung, etc. Mostly missense
TP53 R213X 0/0:38,0:38 1/1:0,19:19 Colorectal, breast Recurrent in colorectal cancers
LRP1B W3334X 0/0:76,0:76 0/1:39,34:74 Melanoma, lung, etc. Mostly missense
ZFHX3 T3055A 0/0:113,0:113 0/1:48,59:107 Multiple Missense and frameshift/truncating

0 – wild type allele, 1 – mutated allele, 0/0 – wild type homozygous state, 0/1 – heterozygote, 1/1 – mutation in a homozygous or LOH state; 0/1:101,103:204 – a mutation in a heterozygous state as based on 101 wild type and 103 mutation reads, 204 reads in total.