Copy number variants (CNVs) play important roles in a number of human diseases and in
pharmacogenetics. Powerful methods exist for CNV detection in whole genome sequencing …

Background Previous studies have suggested that breast cancer risk factors are associated
with estrogen receptor (ER) and progesterone receptor (PR) expression status of the tumors …

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 breast cancer shows a higher incidence in women of
African ancestry compared to women of European ancestry. In search of common risk alleles …

The association of genetic lesions detected by fluorescence in situ hybridization (FISH) with
survival was analyzed in 1069 patients with newly presenting myeloma treated in the …

Atypical chronic myeloid leukemia (aCML) shares clinical and laboratory features with CML,
but it lacks the BCR-ABL1 fusion. We performed exome sequencing of eight aCMLs and …

Background The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate
precisely associated cancer risks. Population-based family studies have provided evidence …

Purpose: Regions on 1p with recurrent deletions in presenting myeloma patients were
examined with the purpose of defining the deletions and assessing their survival impact …

Genome-wide association studies (GWAS) of breast cancer defined by hormone receptor
status have revealed loci contributing to susceptibility of estrogen receptor (ER)-negative …

Triple-negative (TN) breast cancer is an aggressive subtype of breast cancer associated
with a unique set of epidemiologic and genetic risk factors. We conducted a two-stage …