ORIGINAL CONTRIBUTION Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer
نویسندگان
چکیده
Pardeep Kaurah, MSc; Andrée MacMillan, MSc; Niki Boyd, MSc, PhD; Janine Senz, BSc; Alessandro De Luca, BSc; Nicki Chun, MS; Gianpaolo Suriano, PhD; Sonya Zaor, MSc; Lori Van Manen, MS; Cathy Gilpin, MS; Sarah Nikkel, MD; Mary Connolly-Wilson, Med; Scott Weissman, MS; Wendy S. Rubinstein, MD; Courtney Sebold, MS; Robert Greenstein, MD; Jennifer Stroop, MS; Dwight Yim, MD; Benoit Panzini, MD; Wendy McKinnon, MS; Marc Greenblatt, MD; Debrah Wirtzfeld, MD; Daniel Fontaine, MD; Daniel Coit, MD; Sam Yoon, MD; Daniel Chung, MD; Gregory Lauwers, MD; Antonio Pizzuti, MD; Carlos Vaccaro, MD; Maria Ana Redal, PhD; Carla Oliveira, PhD; Marc Tischkowitz, MD; Sylviane Olschwang, MD; Steven Gallinger, MD; Henry Lynch, MD; Jane Green, PhD; James Ford, MD; Paul Pharoah, PhD; Bridget Fernandez, MD; David Huntsman, MD
منابع مشابه
Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.
CONTEXT Hereditary diffuse gastric cancer is caused by germline mutations in the epithelial cadherin (CDH1) gene and is characterized by an increased risk for diffuse gastric cancer and lobular breast cancer. OBJECTIVE To determine whether recurring germline CDH1 mutations occurred due to independent mutational events or common ancestry. DESIGN, SETTING, AND PATIENTS Thirty-eight families d...
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Absract Gastric cancer is the fourth most common cancer and the second leading cause of cancer death. Most cases are sporadic and only 10% of patients, show familial clustering. Among these patients, 1 to 3 % have hereditary diffuse gastric cancer (HDGC), which is autosomal-dominant and present in younger ages. Mutations in Ecadherin gene CDH1 has been identified in 30 to 50% of patient...
متن کاملCharacterization of a recurrent germ line mutation of the E-cadherin gene: implications for genetic testing and clinical management.
PURPOSE To identify germ line CDH1 mutations in hereditary diffuse gastric cancer (HDGC) families and develop guidelines for management of at risk individuals. EXPERIMENTAL DESIGN We ascertained 31 HDGC previously unreported families, including 10 isolated early-onset diffuse gastric cancer (DGC) cases. Screening for CDH1 germ line mutations was done by denaturing high-performance liquid chro...
متن کاملGermline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria.
BACKGROUND Mutations in the E-cadherin (CDH1) gene are a well documented cause of hereditary diffuse gastric cancer (HDGC). Development of evidence based guidelines for CDH1 screening for HDGC have been complicated by its rarity, variable penetrance, and lack of founder mutations. METHODS Forty three new gastric cancer (GC) families were ascertained from multiple sources. In 42 of these famil...
متن کاملPanel testing reveals nonsense and missense CDH1 mutations in families without hereditary diffuse gastric cancer.
BACKGROUND The reported penetrance of germline CDH1 mutations is high in families with hereditary diffuse gastric cancer (HDGC). Men and women have a 70% and 56%, respectively, cumulative risk of developing diffuse gastric cancer by age 80. Women additionally have a 42% cumulative risk of developing breast cancer. Due to the high penetrance of these mutations, prophylactic total gastrectomy is ...
متن کاملEarly gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations.
BACKGROUND Germ-line truncating mutations in the E-cadherin (CDH1) gene have been found in families with hereditary diffuse gastric cancer. These families are characterized by a highly penetrant susceptibility to diffuse gastric cancer with an autosomal dominant pattern of inheritance, predominantly in young persons. We describe genetic screening, surgical management, and pathological findings ...
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