Polygenic susceptibility to breast cancer and implications for prevention

By P. Pharoah, A. Antoniou, M. Bobrow, R. Zimmern, D. Easton, Bruce A. J. Ponder. Nature Genetics, 2002

854 citations recorded by the source corpus.

Subfields: Genetics, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/eae0002a07fd6c2a137dba78fbb5bf462026e37a

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Citations in the corpus

Power and Predictive Accuracy of Polygenic Risk Scores (2013, background): “log risk of disease, which is assumed to be normally distributed in the population with mean log K{log lS and variance 2 log lS , where lS is the sibling relative recurrence risk [17,20].”
Prediction of individual genetic risk to disease from genome-wide association studies. (2007, background): “…complex diseases means that the majority of genetic variance is explained by variants with minor allele frequency <0.01 (the rare variants model; Pritchard 2001), then GWAS will fail to detect risk variants that explain much of the genetic variance because of lack of power and because very rare…”
TGF-β signalling pathway and breast cancer susceptibility (2011, background): “remaining risk is likely to be caused by the cumulative effect of multiple moderate/lower-risk inherited variants (2).”
Estimation of effect size distribution from genome-wide association studies and implications for future discoveries (2010, positive): “Theoretical calculations based on estimates of total genetic variances have indicated that the potential benefit of such models could be large for chronic diseases such as breast cance”
Genetic determinants of cancer metastasis (2007, background): “Moreover, it is estimated that the majority of breast cancer risk is attributed to low-penetrant polygenic effects, rendering the identification of individual susceptibility genes difficul”
The genetics and genomics of cancer (2003, background): “Cancer is a polygenic disorder Predisposition by combinations of weak genetic variants may be of much greater significance to public health than the marked individual risks seen in the inherited cancer syndrome”
Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor–positive breast cancer (2007, background): “Much of the genetic component of risk of breast cancer remains uncharacterized and is thought to arise from combinations of less penetrant variants that, individually, may be quite commo”
A common coding variant in CASP8 is associated with breast cancer risk (2007, background): “Rare, high-penetrance germline mutations in genes such as BRCA1 or BRCA2 account for less than 25% of the familial risk of breast cancer, and much of the remaining variation in genetic risk is likely to be explained by combinations of more common, lower-penetrance variant”
Common disorders are quantitative traits (2009, background): “(Such composites have also been called polygenic susceptibility score”
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer (2007, background): “Family history is an established risk factor for breast cancer, yet estimates of the inherited component of the disease are uncertai”
Genetic variation in microRNA networks: the implications for cancer research (2010, neutral): “The polygenic model of inherited breast cancer purports that unfavourable combinations of polymorphic genetic variants in low-penetrance susceptibility genes contribute to the excess familial breast cancer risk and most of these genes have not yet been discovere”