Table 4 Mutations in neoplasms from autopsied Werner syndrome patients.

From: Werner syndrome through the lens of tissue and tumour genomics

Patient

Sample*

Gene/Position +

Mutation +

Reads Ref/Var +

COSMIC Listing? ‡

Comments

3

pancreatic adeno-carcinoma

KRAS chr12:25398285

C>A/p.G12C

434/47

Yes/multiple

very common in pancreatic adenocarcinoma

  

GNAS chr20:57415830

G>C/p.K223N §

225/24

No

validation required

  

TP53 chr17:7577141

C>T/p.G266E

794/81

Yes/multiple

 
  

KIT chr4:55594068

G>A/p.M618I ‖

597/567

No

likely germline variant

4

pancreatic adeno-carcinoma

KRAS chr12:25398284

C>T/p.G12D

541/60

Yes/multiple

very common in pancreatic adenocarcinoma

  

SMAD4 chr18:48603032

C>T/p.R445X

441/100

Yes/multiple

also potential LOH

  

TP53 chr17:7577085

C>T/p.E285K

356/68

Yes/multiple

also potential LOH

  

GNA11 chr19:3094712

C>G/p.I21M

157/15

No

validation required

  1. LOH = loss of heterozygosity.
  2. *Pancreatic adenocarcinoma samples for DNA preparation were macrodissected from a liver metastasis (Patient 3) and a lymph node metastasis (Patient 4).
  3. +Gene positions are with reference to the UCSC Genome Browser (GRCh37/hg19) assembly. Mutations are listed with the identified base change first, followed by the altered residue in the target protein. The mutations identified in our patients have been deposited in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/) on 28 January 2016 under Submission Record SUB1321610, Monnat Lab.
  4. ‡COSMIC: YES = mutation is listed in the Catalog of Somatic Mutations in Cancer database, http://cancer.sanger.ac.uk/cosmic, with ‘multiple’ indicating the presence of several COSMIC records for this mutation, though often in different tumor types.
  5. §This needs to be further validated as this position is known to be artifact-prone.
  6. ‖KIT p.M618I variant is a rare germline variant (3 examples listed in the ExAC browser) and probably a rare benign variant.
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