Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

doi:10.1001/jama.297.21.2360

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Article

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer.

JAMA - 6 Jun 2007

Kaurah Pardeep, MacMillan Andrée, Boyd Niki, Senz Janine, De Luca Alessandro, Chun Nicki, Suriano Gianpaolo, Zaor Sonya, Van Manen Lori, Gilpin Cathy, Nikkel Sarah, Connolly-Wilson Mary, Weissman Scott, Rubinstein Wendy S, Sebold Courtney, Greenstein Robert, Stroop Jennifer, Yim Dwight, Panzini Benoit, McKinnon Wendy, Greenblatt Marc, Wirtzfeld Debrah, Fontaine Daniel, Coit Daniel, Yoon Sam, Chung Daniel, Lauwers Gregory, Pizzuti Antonio, Vaccaro Carlos, Redal Maria Ana, Oliveira Carla, Tischkowitz Marc, Olschwang Sylviane, Gallinger Steven, Lynch Henry, Green Jane, Ford James, Pharoah Paul, Fernandez Bridget, Huntsman David

Abstract excerpt

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 diagnosed clinically...

Topics

Adult
Age of Onset
Aged
Aged, 80 and over
Antigens, CD
Cadherins
DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Founder Effect

Genetic Carrier Screening

Genetic Counseling

Germ-Line Mutation

Haplotypes

Heterozygote

Humans

Male

Middle Aged

Mutation

Source

Open in PubMed

Identifiers

PMID: 17545690
DOI: 10.1001/jama.297.21.2360

Genes

CDH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-17545690-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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