DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …

DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in
genes encoding proteins key in DNA replication and/or the cellular response to DNA …

Although most cancer cases are due to somatic mutations, up to 10% of cases are
attributable to germline mutations. This inherited cancer predisposition is mostly due to the …

Maintenance of genomic integrity involves cellular processes tailored to specific types of
DNA damage. Monogenic disorders in DNA-repair pathways lead to a spectrum of clinical …

Introduction 2.1. DNA damage response and repair pathways 2.2. Basic types of DNA
damage 2.2. 1. Mismatched bases 2.2. 2. Base loss and base modification 2.2. 3 …

DNA repair defects underlie many cancer syndromes. We tested whether de novo germline
mutations (DNMs) are increased in families with germline defects in polymerase …

This volume describes the elaborate surveillance systems and various DNA repair
mechanisms that ensure accurate passage of genetic information onto daughter cells. In …

The discovery that alterations of the DNA mismatch repair system (MMR) were linked to the
common human cancer susceptibility syndrome hereditary nonpolyposis colon cancer …

Within the last decade, multiple novel congenital human disorders have been described with
genetic defects in known and/or novel components of several well-known DNA repair and …

Genomic instability is the driving force behind cancer development. Human syndromes with
DNA repair deficiencies comprise unique opportunities to study the clinical consequences of …