Familial gastric cancer

Bresciani, Cláudio José Caldas; Perez, Rodrigo Oliva; Gama-Rodrigues, Joaquim

doi:10.1590/s0004-28032003000200010

Cited by 8 publications

(7 citation statements)

References 18 publications

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“…12,14,36 The lack of a sensitive screening test for HDGC makes early diagnosis extremely challenging. 8,37,38 By the time patients are symptomatic and present for treatment, many have diffuse involvement of the stomach, and the rates of mortality are high. 13,39,40 In case reports, patients have presented with extensive DGC despite recent normal endoscopy with negative biopsies.…”

Section: Surveillancementioning

confidence: 99%

Hereditary diffuse gastric cancer

Cisco

Ford

Norton

2008

Cancer

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Approximately 10% of patients with gastric cancer show familial clustering, and 3% show autosomal dominance and high penetrance. Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominant, inherited cancer syndrome in which affected individuals develop diffuse-type gastric cancer at a young age. Inactivating mutations in the E-cadherin gene CDH1 have been identified in 30% to 50% of patients. CDH1 mutation carriers have an approximately 70% lifetime risk of developing DGC, and affected women carry an additional 20% to 40% risk of developing lobular breast cancer. Because endoscopic surveillance is ineffective in identifying early HDGC, gene-directed prophylactic total gastrectomy currently is offered for CDH1 mutation carriers. In series of asymptomatic individuals undergoing total gastrectomy for CDH1 mutations, the removed stomachs usually contain small foci of early DGC, making surgery not prophylactic but curative.The authors of this review recommend consideration of total gastrectomy in CDH1 mutation carriers at an age 5 years younger than the youngest family member who developed gastric cancer. Individuals who choose not to undergo prophylactic gastrectomy should be followed with biannual chromoendoscopy, and women with CDH1 mutations also should undergo regular surveillance with magnetic resonance imaging studies of the breast. Because of the emergence of gene-directed gastrectomy for HDGC, today, a previously lethal disease is detected by molecular techniques, allowing curative surgery at an early stage.

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Section: Surveillancementioning

confidence: 99%

Hereditary diffuse gastric cancer

Cisco

Ford

Norton

2008

Cancer

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“…Among the familial forms of gastric cancer, HDGC is the only syndrome with a well-defined genetic cause [2,3]. …”

Section: Discussionmentioning

confidence: 99%

“…In addition to its sporadic manifestation, GC is also associated with various syndromes that predispose the carrier to cancer. Among the familial forms of GC, hereditary diffuse gastric cancer (HDGC) is the only form with a well-defined genetic cause [2,3]. …”

Section: Introductionmentioning

confidence: 99%

Genetic screening analysis of patients with hereditary diffuse gastric cancer from northern and northeastern Brazil

Moreira-Nunes

Barros

Borges

et al. 2014

Hered Cancer Clin Pract

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BackgroundHereditary diffuse gastric cancer (HDGC) is a hereditary autosomal inherited syndrome associated with CDH1 germline mutations. In Brazil, gastrointestinal tumors are among the most prevalent tumor types and constitute a serious public health problem, especially in the northern and northeastern regions. This study aimed to investigate germline mutations, methylation pattern and genomic rearrangements in the CDH1 gene and quantitative changes in the DNA of HDGC patients in northern and northeastern Brazil.MethodsTwenty-seven DNA samples from the members of four families affected by HDGC were analyzed using array comparative genomic hybridization (aCGH), DNA sequencing and methylation pattern.ResultsNo evidence of gain and loss events or any rearrangements were found in any of the samples tested using aCGH. No promoter region hypermethylation was observed either. Two of the four families presented different types of germline mutations. The 185G > T and 1018A > G germline mutations detected in this study have been described in Asian and European families, respectively. The ancestors of the two families carrying these mutations had originated from those continents.ConclusionThis is the first study to evaluate CDH1 gene germline mutations in Brazilian families with HDGC. In our study, 50% of the families showed no CDH1 gene alterations, and it is possible that in regions with a high incidence of gastric cancer, such as northern and northeastern Brazil, environmental factors might have induced the different genetic alterations analyzed in this study.

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“…9,22,29,30 It is usually not associated with mass lesions or ulcers. In fact, patients with the diffuse signet-ring cell type of gastric cancer commonly present with linitus plastica or diffuse involvement of the entire stomach.…”

Section: Annals Of Surgery • Volume 245 Number 6 June 2007mentioning

confidence: 99%