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…

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 …

Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous
condition that in some cases displays Mendelian recessive inheritance. By systematically …

Background Germline loss-of-function mutations in PALB2 are known to confer a predisposition
to breast cancer. However, the lifetime risk of breast cancer that is conferred by such …

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: Previously, small studies have found that BRCA1 and BRCA2 breast tumors
differ in their pathology. Analysis of larger datasets of mutation carriers should allow further …

Gonadal function is controlled by the two pituitary gonadotropins, luteinizing hormone (LH)
and follicle-stimulating hormone (FSH). While LH mainly regulates gonadal steroidogenesis, …

Genome-wide association studies (GWAS) and large-scale replication studies have identified
common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial …

CHEK2 (previously known as "CHK2") is a cell-cycle–checkpoint kinase that phosphorylates
p53 and BRCA1 in response to DNA damage. A protein-truncating mutation, 1100delC in …

Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility
loci, but these explain only a small fraction of the familial risk of the disease. Five of these …