Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as
BRCA1, and many common, mostly non-coding variants. However, much of the genetic …

Breast cancer is the most common cancer among women. Common variants at 27 loci have
been identified as associated with susceptibility to breast cancer, and these account for ∼9…

Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40–50%
of phenotypic variation in human height, but identifying the specific variants and …

Stratification of women according to their risk of breast cancer based on polygenic risk scores
(PRSs) could improve screening and prevention strategies. Our aim was to develop PRSs, …

Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …

Background: Data for multiple common susceptibility alleles for breast cancer may be combined
to identify women at different levels of breast cancer risk. Such stratification could guide …

Purpose Recent advances in DNA sequencing have led to the development of breast
cancer susceptibility gene panels for germline genetic testing of patients. We assessed the …

Estrogen receptor (ER)-negative tumors represent 20–30% of all breast cancers, with a higher
proportion occurring in younger women and women of African ancestry 1 . The etiology 2 …

Genome-wide association studies (GWAS) have identified four susceptibility loci for
epithelial ovarian cancer (EOC), with another two suggestive loci reaching near genome-wide …

Fundamental processes influencing human growth can be revealed by studying extreme
short stature. Using genetic linkage analysis, we find that biallelic loss-of-function mutations in …