Somatic or acquired mutations are postzygotic genetic variations that can occur within any
tissue. These mutations accumulate during aging and have classically been linked to …

Fifty years after the recognition of the Li–Fraumeni syndrome (LFS), our perception of
cancers related to germline alterations of TP53 has drastically changed:(i) germline TP53 …

Simple Summary TP53 variants detected in blood represent a main genetic cause of breast
cancers occurring before 31 years of age. TP53 being included in most of the cancer gene …

Clonal hematopoiesis of indeterminate potential (CHIP) is suspected of being a risk factor for
patients with cancer. This study aimed to assess the clinical consequences of CHIP in …

The current level of evidence is insufficient to support implementation of prospective
screening of donors for clonal hematopoiesis. Further, without clear consensus guidelines …

Background: The German Consortium for Hereditary Breast and Ovarian Cancer (GC-
HBOC) has established a multigene panel (TruRisk®) for the analysis of risk genes for …

Silencing of tumor suppressor genes by promoter hypermethylation is a key mechanism to
facilitate cancer progression in many malignancies. While promoter hypermethylation can …

Heterozygous (HET) TP53 pathogenic variants (PVs) are associated with Li-Fraumeni
syndrome (LFS), a dominantly inherited condition causing high risk for sarcoma, breast, and …

Until recently, the protein phosphatase, Mg2+/Mn2+‐dependent 1D (PPM1D) gene had not
been examined in haematological cancer, but several studies have now explored the …

Historically, it is estimated that 5–10% of cancer patients carry a causative genetic variant for
a tumor predisposition syndrome. These conditions have high clinical relevance as they are …