The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …

Hereditary cancer syndromes account for nearly 10% of cancers even though they are often
underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in …

Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in humans
and accounts for some 3% of unselected patients with colorectal or endometrial cancer and …

DNA mismatch repair (MMR) is a highly conserved genome stabilizing pathway that corrects
DNA replication errors, limits chromosomal rearrangements, and mediates the cellular …

Colorectal cancer is one of the most common tumors, and genetic predisposition is one of
the key risk factors in the development of this malignancy. Lynch syndrome and familial …

Around 10% to 16% 1–4 of all individuals with colorectal cancer have a pathogenic variant
in a cancer susceptibility gene (Table 1). While not all of these genes have been associated …

Hereditary cancer syndromes (HCS) account for 5~ 10% of all cancer diagnosis. Lynch
syndrome (LS) is one of the most common HCS, caused by germline mutations in the DNA …

Replication repair deficiency (RRD) is a pan-cancer mechanism characterized by
abnormalities in the DNA mismatch repair (MMR) system due to pathogenic variants in the …

Introduction Up to one third of colorectal cancers show familial clustering and 5% are
hereditary single-gene disorders. Hereditary non-polyposis colorectal cancer comprises …

Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is thought
to contribute to the rate of disease pathogenesis. Therefore, factors influencing repeat …