Somatic mutation of APC gene in desmoid tumour in familial adenomatous polyposis

Mutations of adenomatous polyposis coli (APC) gene are uncommon in sporadic desmoid tumours

“…thus leading to the complete inactivation of APC. as documented in previous studies (Mivaki et al 1993: Sen-Gupta et al 1993: Palmirotta et al 1995. On the other hand.…”

“…10 out of the 15 FAP-associated desmoids that have been reported to carry somatic APC mutations were also localized in the abdominal wall (Mivaki et al 1993: Sen-Gupta et al 1993: Palmiirotta et al 1995. This might suggest that the presence of somatic APC mutations in desmoid DNA.…”

“…through the mutation or the loss of the constitutionally w ild-tx pe allele. was found to be necessarv for the development of desmoid tumours that occur in FAP patients (Mixvaki et al 1993: Sen-Gupta et al 1993: Palmirotta et al 1995. Also.…”

Frequent β‐Catenin Abnormalities in Bone and Soft‐tissue Tumors

“…[2][3][4] In addition, amplifications of c-sis, c-myc, and mdm2, point mutations of H-ras and Kras, or adenomatous polyposis coli (APC) mutations have been reported in some types of tumors. [4][5][6][7][8][9][10][11][12] Dysfunction of the APC gene was shown to contribute to the development of desmoid tumor, one of the commonest extra-colonic manifestations in patients with familial adenomatous polyposis (FAP), 13,14) as well as sporadic cases. [10][11][12] Hence, the functional activation of β-catenin caused by APC mutation is considered likely to be a key step in desmoid formation.…”

“…[4][5][6][7][8][9][10][11][12] Dysfunction of the APC gene was shown to contribute to the development of desmoid tumor, one of the commonest extra-colonic manifestations in patients with familial adenomatous polyposis (FAP), 13,14) as well as sporadic cases. [10][11][12] Hence, the functional activation of β-catenin caused by APC mutation is considered likely to be a key step in desmoid formation. 15) In addition to APC alterations, mutations of the β-catenin gene itself were identified in several percent of colorectal cancers, [16][17][18] in which stabilized and accumulated mutant β-catenin induces increased Wnt/Wingless signaling through Tcf/ Lef-mediated transcriptional activation.…”