Population Sciences Laboratory Support

The DF/HCC Population Sciences Laboratory Support Core provides flexible, high-quality, high-throughput single nucleotide polymorphisms (SNP) genotyping to the DF/HCC research community. Its mission is to provide services to DF/HCC members conducting molecular analyses of germline and somatic DNA collected as part of a wide range of investigations into the molecular epidemiology of cancer, including Genome Wide Association Studies (GWAS). This core provides high-throughput assays of specific gene mutations and SNPs in the many situations where previously defined specific nucleotide alterations are of interest.

Key Services

  • SNP analysis using Taqman
  • SNP analysis using the Taqman OpenArray Genotyping System
  • Targeted sequencing using Ion Torrent PGM
  • DNA extraction, plating, and whole genome amplification
  • SNP analysis and sequencing using Illumina technologies
  • Telomere length analysis

Highlighted Projects

Project Title: Aspirin use, 8q24 single nucleotide polymorphism rs6983267, and colorectal cancer according to CTNNB1 alterations
Principal Investigator: Andrew Chan, MD, MPH (MGH)
Description of the Project: The results support an influence of aspirin on WNT/CTNNB1 signaling andsuggest that aspirin chemoprevention may be tailored according to rs6983267 genotype.
Contribution of the Core: The Core performed DNA Extraction of 5,233 individuals and TaqMan and OpenArray genotyping on 5,233 individuals.

Project Title: Common genetic variation of the calcium-sensing receptor and lethal prostate cancer risk
Principal Investigator: Edward Giovannucci, MD, ScD (HSPH)
Description of the Project: The joint association of SNPs in the calcium-sensing receptor (CaSR) was significant for lethal Prostate Cancer (P = 0.04). The findings indicate that the CaSR may be involved in Prostate Cancer progression.
Contribution of the Core: The Core performed OpenArray genotyping and DNA extraction and whole genome amplification of 2,924 individuals.

Project Title: Plasma vitamin D biomarkers and leukocyte telomere length
Principal Investigator: Immaculata DeVivo, MPH, PhD (BWH)
Description of the Project: Higher plasma 25(OH)D levels may be associated with longer telomeres, and this association may be modified by calcium intake.
Contribution of the Core: The Core performed DNA Extraction of 1,424 individuals, Telomere Length Analysis on 1,424 individuals and OpenArray genotyping on 480 individuals.


If research supported by this core facility results in publication, please acknowledge this support by including the following in your publication(s):
"We thank Dana-Farber/Harvard Cancer Center in Boston, MA, for the use of the Population Sciences Laboratory Support Core, which provided __________ service. Dana-Farber/Harvard Cancer Center is supported in part by an NCI Cancer Center Support Grant # NIH 5 P30 CA06516."