Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most
common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were …

MUTYH-associated polyposis (MAP) was first described in 2002. It is an autosomal
recessive condition associated with germline pathogenic variants of both MUTYH alleles. In …

Background Patients with multiple colorectal adenomas are currently screened for germline
mutations in two genes, APC and MUTYH. APC-mutated patients present classic or …

Gross genomic deletions or duplications seem to be very rare events, only one recurrent
large deletion has been described so far. 6 In part ethnicity-specific mutational spectrum: two …

MUTYH-associated polyposis (MAP) was first described in 2002. MUTYH is a component of
a base excision repair system that protects the genomic information from oxidative damage …

Distribution of cancer‐predisposing mutations demonstrates significant interethnic
variations. This study aimed to evaluate patterns of APC and MUTYH germ‐line mutations in …

In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited
polyposis associated with germline mutations of MUTYH, a gene encoding a base excision …

To determine prevalence, spectrum and genotype–phenotype correlations of MUTYH
variants in Italian patients with suspected MAP (MUTYH-associated polyposis), a …

Approximately 10% of all cutaneous melanoma cases occur in a familial context. The major
susceptibility gene for familial melanoma is CDKN2A. In Latin America, genetic studies …

Colorectal cancer is classified in to three forms: sporadic (70–75%), familial (20–25%) and
hereditary (5–10%). hereditary colorectal cancer syndromes classified into two different …