Germline alterations in many genes coding for proteins regulating DNA repair and DNA
damage response (DDR) to DNA double-strand breaks (DDSB) have been recognized as …

In the past decade, CHK2 has emerged as an important multifunctional player in the DNA-
damage response signalling pathway. Parallel studies of the human CHEK2 gene have also …

Age is the dominant risk factor for most chronic human diseases, but the mechanisms
through which ageing confers this risk are largely unknown. The age-related acquisition of …

We conducted a genome-wide association study (GWAS) to identify novel predisposition
alleles associated with Philadelphia chromosome-negative myeloproliferative neoplasms …

Background Otherwise healthy persons with a small number of B-cell clones circulating in
the peripheral blood have been designated as having monoclonal B-cell lymphocytosis …

The heritability of B cell chronic lymphocytic leukemia (CLL) is relatively high; however, no
predisposing mutation has been convincingly identified. We show that loss or reduced …

Importance Knowledge about the spectrum of diseases associated with hereditary cancer
syndromes may improve disease diagnosis and management for patients and help to …

Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-
analysis of two genome-wide association studies of leiomyoma in European women (16,595 …

Mutations in the cell cycle checkpoint kinase 2 (CHEK2) tumor suppressor gene are
associated with multi‐organ cancer susceptibility including cancers of the breast and …

In childhood cancer, the frequency of cancer-associated germline variants and their
inheritance patterns are not thoroughly investigated. Moreover, the identification of children …