Evaluation of significant genome-wide association studies risk — SNPs in young breast cancer patients

Michelle Rath, Qiyuan Li, Huili Li, Sara Lindström, Alexander Miron, Penelope Miron, Anne E. Dowton, Meghan E. Meyer, Bryce G. Larson, Mark Pomerantz, Ji Heui Seo, Laura C. Collins, Hilde Vardeh, Elena Brachtel, Steven E. Come, Virginia Borges, Lidia Schapira, Rulla M. Tamimi, Ann H. Partridge, Matthew FreedmanKathryn J. Ruddy

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Purpose Genome-wide-association studies (GWAS) have identified numerous single nucleotide polymorphisms (SNPs) that are associated with an increased risk of breast cancer. Most of these studies were conducted primarily in postmenopausal breast cancer patients. Therefore, we set out to assess whether or not these breast cancer variants are also associated with an elevated risk of breast cancer in young premenopausal patients. Methods In 451 women of European ancestry who had prospectively enrolled in a longitudinal cohort study for women diagnosed with breast cancer at or under age 40, we genotyped 44 SNPs that were previously associated with breast cancer risk. A control group was comprised of 1142 postmenopausal healthy women from the Nurses’ Health Study (NHS). We assessed if the frequencies of the adequately genotyped SNPs differed significantly (p0.05) between the cohort of young breast cancer patients and postmenopausal controls, and then we corrected for multiple testing. Results Genotyping of the controls or cases was inadequate for comparisons between the groups for seven of the 44 SNPs. 9 of the remaining 37 were associated with breast cancer risk in young women with a p-value <0.05: rs10510102, rs1219648, rs13387042, rs1876206, rs2936870, rs2981579, rs3734805, rs3803662 and rs4973768. The directions of these associations were consistent with those in postmenopausal women. However, after correction for multiple testing (Benjamini Hochberg) none of the results remained statistically significant. Conclusion After correction for multiple testing, none of the alleles for postmenopausal breast cancer were clearly associated with risk of premenopausal breast cancer in this relatively small study.

Original languageEnglish (US)
Article numbere0216997
JournalPloS one
Issue number5
StatePublished - May 2019

ASJC Scopus subject areas

  • General


Dive into the research topics of 'Evaluation of significant genome-wide association studies risk — SNPs in young breast cancer patients'. Together they form a unique fingerprint.

Cite this