Hereditary diffuse gastric cancer

Lynch, Henry T.; Kaurah, Pardeep; Wirtzfeld, Debrah; Rubinstein, Wendy S.; Weissman, Scott M.; Lynch, Jane F.; Grady, William M.; Wiyrick, Sara J.; Senz, Janine; Huntsman, David G.

doi:10.1002/cncr.23501

Cited by 85 publications

(34 citation statements)

References 29 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The carcinogenic mechanism in this case might be different from that observed in typical multiple EGCs, since the clinicopathological characteristics were completely different. Lynch et al 13 and Rogers et al 14 reported hereditary diffuse gastric cancers, in which a germ-line mutation resulted in multiple signet-ring cell carcinomas similar to those observed in the present case. Such germ-line mutations might be associated with the pathogenesis of the present case.…”

Section: Discussionsupporting

confidence: 84%

Twenty-two metachronous multiple signet-ring cell carcinomas treated with repeated gastrectomies and repeated endoscopic mucosal resections: Report of a case

et al. 2009

View full text Add to dashboard Cite

A 45-year-old Japanese woman underwent an endoscopic mucosal resection (EMR) for early gastric cancer at the Cancer Institute Hospital in July 1996. The patient then underwent a distal gastrectomy in 2002 because of a new early gastric cancer and repeated EMR for a total of six early gastric cancers in 2007. Finally, a total gastrectomy was performed in February 2008. The pathological examination of the resected specimen indicated 14 synchronous multiple early gastric cancers. Although the incidence of multiple gastric cancers has been reported to range from 5% to 15%, there is usually only a double or triple lesion. Moreover, multiple gastric cancer is typically observed in male elderly patients as differentiated adenocarcinomas. The present case was a young female patient and all of the lesions were intramucosal signet-ring cell adenocarcinomas. The carcinogenetic mechanism in this case may therefore be different from that in typical multiple gastric cancers. A thorough preoperative examination and regular postoperative follow-up are therefore essential for detecting multiple gastric cancers in their early stages.

show abstract

Section: Discussionsupporting

confidence: 84%

Twenty-two metachronous multiple signet-ring cell carcinomas treated with repeated gastrectomies and repeated endoscopic mucosal resections: Report of a case

et al. 2009

View full text Add to dashboard Cite

show abstract

“…The missense variant 6571G[C (E2175Q) in exon 11 was identified in family 25-7-000059 with 2 affected PC patients (ages 43 and 52 years) and 1 one affected member with breast cancer (age 61 years). This mutation is not yet listed in the Breast Cancer Information Core (BIC), but was recently identified in a patient with a family history of breast and ovarian cancer who was suffering from both breast and diffuse gastric cancer [25]. Since we had germline DNA from only one affected individual, we could not analyze segregation of this BRCA2 variant with the disease.…”

Section: Brca2 Mutation Analysismentioning

confidence: 96%

Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families

et al. 2010

View full text Add to dashboard Cite

Previous small scale studies reported that deleterious BRCA2 and CDKN2a germline mutations contribute to a subset of families with inherited pancreatic cancer. As the prevalence of those mutations in the setting of familial pancreatic cancer is still not well defined for the German population, we evaluated the presence of BRCA2 and CDKN2a germline mutations in a large cohort of familial pancreatic cancer (FPC) families from the German National Case Collection for Familial Pancreatic Cancer (FaPaCa). Fifty-six FPC families with at least two-first-degree relatives with confirmed pancreatic cancer that did not fulfill the criteria of other tumor predisposition syndromes, were analyzed for BRCA2 and CDKN2a germline mutations by DHPLC and/or direct sequencing. No deleterious CDKN2a mutations were identified in our families suggesting that CDKN2a mutations are unlikely to predispose PC in FPC families without melanoma. No deleterious BRCA2 mutations, but 6 unclassified variants, were detected in our FPC collection. Combining the prevalence of deleterious BRCA2 germline mutations from our previous separate study with the data from this study we were able to much more accurately estimate the BRCA2 carrier frequency for FPC families in the German population. A total of two mutations and 6 unclassified variants (mutation range: 2.8-11.4%) were thus identified in 70 German FPC families, indicating that the prevalence of BRCA2 mutations in the German FPC population is less frequent than previously reported.

show abstract

“…Gastric acid and enzymes plays a key role in the digestive procedure. Increasing evidence indicating that factors inhibiting the acid secretion are involved in the carcinogenesis of gastric cancer (Louise et al 2005;Argani et al 2007;Vilkin et al 2008).…”

Section: Discussionmentioning

confidence: 99%

“…Despite some advances were achieved in the treatment of advanced gastric cancer (Sipponen 2002;Fukase et al 2008;Lee et al 2008;Sugano 2008), these patients still do poorly. Radical surgical resection is still the best treatment option in clinical practice (Lynch et al 2008). Overall survival of patients with gastric cancer remains disappointing.…”

Section: Discussionmentioning

confidence: 99%

Expression of anion exchanger 1 is associated with tumor progress in human gastric cancer

Wang

Song

Liu

et al. 2009

J Cancer Res Clin Oncol

View full text Add to dashboard Cite

show abstract

Hereditary diffuse gastric cancer

Cited by 85 publications

References 29 publications

Twenty-two metachronous multiple signet-ring cell carcinomas treated with repeated gastrectomies and repeated endoscopic mucosal resections: Report of a case

Twenty-two metachronous multiple signet-ring cell carcinomas treated with repeated gastrectomies and repeated endoscopic mucosal resections: Report of a case

Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families

Expression of anion exchanger 1 is associated with tumor progress in human gastric cancer

Contact Info

Product

Resources

About