Presentation and Follow-up of Familial Adenomatous Polyposis: Differences Between APC and MUTYH Mutations

Bademci, Refik; Bollo, Jesús; Cajal, Teresa Ramón y; Martínez, M. Carmen; Hernández, María Pilar Usábel; Targarona, Eduardo M.

doi:10.1016/j.cireng.2020.06.007

Cited by 1 publication

(2 citation statements)

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“… 30 Since the phenotype of MAP overlaps with FAP yet cancer risk management differs, it is important to confirm the underlying molecular diagnosis in an individual presenting with colonic polyposis and/or early onset colon cancer. 81 Additionally, risk estimation for relatives is also impacted depending on whether the polyposis syndrome is inherited in a recessive (eg, MAP) versus dominant (eg, FAP/AFAP) manner.…”

Section: Introductionmentioning

confidence: 99%

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Endoscopic Surveillance in Patients with the Highest Risk of Gastric Cancer: Challenges and Solutions

Long¹,

Ebrahimzadeh²,

Stanich³

et al. 2022

CMAR

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Gastric cancer is one of the most significant causes of cancer-related morbidity and mortality worldwide. Recognized modifiable risk factors include Helicobacter pylori infection, geographic location, select dietary factors, tobacco use and alcohol consumption. In addition, multiple hereditary cancer predisposition syndromes are associated with significantly elevated gastric cancer risk. Endoscopic surveillance in hereditary gastric cancer predisposition syndromes has the potential to identify gastric cancer at earlier and more treatable stages, as well as to prevent development of gastric cancer through identification of precancerous lesions. However, much uncertainty remains regarding use of endoscopic surveillance in hereditary gastric cancer predisposition syndromes, including whether or not it should be routinely performed, the surveillance interval and age of initiation, cost-effectiveness, and whether surveillance ultimately improves survival from gastric cancer for these high-risk individuals. In this review, we outline the hereditary gastric cancer predisposition syndromes associated with the highest gastric cancer risks. Additionally, we cover current evidence and guidelines addressing hereditary gastric cancer risk and surveillance in these syndromes, along with current challenges and limitations that emphasize a need for continued research in this field.

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Section: Introductionmentioning

confidence: 99%

“…35 , 41 , 87 For ACG and European Society of Medical Oncology (ESMO) guidelines, the recommended age of initiation is slightly earlier at 25–30 years of age, consistent with FAP surveillance, despite the reduced penetrance for duodenal neoplasia with MAP. 42 , 81 , 85 …”

Section: Introductionmentioning

confidence: 99%