Familial gastric cancer: guidelines for diagnosis, treatment and periodic surveillance

Abstract

Hereditary diffuse gastric cancer (HDGC) is a relatively rare disorder, with a mutated CDH1 gene as the only known cause. Carriers of a germline mutation in CDH1 have a lifetime risk of [80% of developing diffuse gastric cancer. As periodic gastric surveillance is of limited value in detecting early stages of HDGC, prophylactic gastrectomy is advised for this patient group. Little is known about other types of familial gastric cancer. The Dutch working group on hereditary gastric cancer has formulated guidelines for various aspects of medical management for families and individuals at high risk of developing gastric cancer, including criteria for referral, classification, diagnostics, and periodic gastric surveillance. These guidelines are not limited to HDGC and are therefore partially complementary to the guidelines on hereditary diffuse gastric cancer of the international gastric cancer linkage consortium (IGCLC 2010). In order to optimize the care and increase the knowledge on hereditary gastric cancer it is important to centralize medical care for these patients. National and international collaboration is warranted to improve the quality of research by increasing the size of study cohorts.

Molecular Biology In Young Women With Breast Cancer: From Tumor Gene Expression To Dna Mutations

“…Carriers of CDH1 mutations face a 40-54% lifetime risk of developing BC 85 . Without a family history of hereditary diffuse gastric carcinoma, early-onset, and frequently bilateral BC, seems to be the highest risk factors for a mutation carrier [86][87][88][89] .…”

Clinical utility gene card for: Hereditary diffuse gastric cancer (HDGC)

“…Some women might choose for prophylactic mastectomy. 5,11 In some cases, a positive result may influence family planning, namely considering offspring.…”

Hereditary Gastric Cancer: Review of Literature

“…The 'Cambridge surveillance protocol' is advised for CDH1 mutation carriers who do not want to undergo a prophylactic gastrectomy, to individuals at 50% risk of being carrier who are not willing to be tested for the mutation as well as for members from HDGC families without a known CDH1 mutation (22). This protocol comprises H.Pylori-testing, annual gastroscopy with 'high definition' endoscope, careful inspection of mucosa during 30 minutes, insufflation and desufflation of the stomach, biopsies of mucosal abnormalities and 30 random biopsies from different gastric regions (antrum, angulus, corpus, fundus, cardia) (13).…”