Intestinal Polyps and Polyposis

Major Hereditary Gastrointestinal Cancer Syndromes: a Narrative Review

“…The APC gene controls the cell proliferation through transcription genes such as cyclin D1 and c myc [16]. The APC gene also helps to suppress tumorigenesis by inhibiting cell cycle progression from G0/G1 to the S phase [8].…”

“…The APC gene also helps to suppress tumorigenesis by inhibiting cell cycle progression from G0/G1 to the S phase [8]. Most of the genetic alterations in the APC gene are truncations or nonsense mutations, which have been utilized for genetic testing such as identification of truncated protein in a process called protein truncated testing (PTT) [16]. Recently, techniques such as multiplex ligation dependent probe amplification (MLPA) have been employed to detect partial or complete loss of the gene, and denaturing high-performance liquid chromatography (dHPLC) is helpful in detecting missense mutations which are usually missed in PTT [16].…”

“…Most of the genetic alterations in the APC gene are truncations or nonsense mutations, which have been utilized for genetic testing such as identification of truncated protein in a process called protein truncated testing (PTT) [16]. Recently, techniques such as multiplex ligation dependent probe amplification (MLPA) have been employed to detect partial or complete loss of the gene, and denaturing high-performance liquid chromatography (dHPLC) is helpful in detecting missense mutations which are usually missed in PTT [16]. Other genetic mutations associated with familial polyposis are in MUTYH, a base excision repair gene, and are transmitted through autosomal recessive inheritance [16].…”

“…Recently, techniques such as multiplex ligation dependent probe amplification (MLPA) have been employed to detect partial or complete loss of the gene, and denaturing high-performance liquid chromatography (dHPLC) is helpful in detecting missense mutations which are usually missed in PTT [16]. Other genetic mutations associated with familial polyposis are in MUTYH, a base excision repair gene, and are transmitted through autosomal recessive inheritance [16].…”

“…For example, mutations located in the central part of the gene between codons 1000 and 1400 are associated with classic FAP, whereas mutations occurring in the peripheral 5' and 3' regions are associated with AFAP. Mutations between codons 311 and 411 and in the 3' region are associated with congenital hypertrophy of the retinal pigment epithelium (CHRPE) whereas mutations after codon 1400 are associated with osteomas and desmoid tumors [16]. Genotype and phenotype variations seen in APC gene mutations can be partially explained by the presence of modifying genes, environmental factors, along with somatic mosaicism which means the presence of genetically different cell populations in the same tissue [5].…”