Single nucleotide polymorphisms and breast cancer: not yet a success story. Academic Article uri icon

Overview

abstract

  • Numerous studies have examined low penetrance susceptibility polymorphisms in candidate genes, with some reporting significant findings. However, for the most part these associations could not be replicated in subsequent studies, suggesting that the original observations were due to chance. The failure to identify meaningful common genetic variation in relation to breast cancer should give us pause for thought and make us reconsider our current research strategies. The most recent directions of pooling samples to increase statistical power and pursuing whole genome screens may overcome some obstacles while also creating new challenges. Future studies should perhaps also consider alternative designs such as using surrogate (preferably continuous) markers of breast cancer, focusing on high-risk populations, and defining pathologically distinct outcomes.

publication date

  • January 1, 2006

Research

keywords

  • Breast Neoplasms
  • Polymorphism, Single Nucleotide

Identity

PubMed Central ID

  • PMC1779480

Scopus Document Identifier

  • 33846904763

Digital Object Identifier (DOI)

  • 10.1056/NEJMoa013390

PubMed ID

  • 16887007

Additional Document Info

volume

  • 8

issue

  • 4