PubMed:10477433 JSONTXT

{"target":"http://pubannotation.org/docs/sourcedb/PubMed/sourceid/10477433","sourcedb":"PubMed","sourceid":"10477433","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/10477433","text":"E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer.\nTo extend earlier observations of germline E-cadherin mutations in kindreds with an inherited susceptibility to diffuse gastric cancer, we searched for germline E-cadherin mutations in five further families affected predominantly by diffuse gastric cancer and one family with a history of diffuse gastric cancer and early-onset breast cancer. Heterozygous inactivating mutations were found in the E-cadherin gene in each of these families. No mutation hotspots were identified. These results demonstrate that germline mutation of the E-cadherin gene is a common cause of hereditary diffuse gastric cancer and suggest a role for these mutations in the incidence of breast cancer.","tracks":[{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":223,"end":237},"obj":"HP_0012126"},{"id":"T2","span":{"begin":231,"end":237},"obj":"HP_0002664"},{"id":"T3","span":{"begin":344,"end":358},"obj":"HP_0012126"},{"id":"T4","span":{"begin":352,"end":358},"obj":"HP_0002664"},{"id":"T5","span":{"begin":400,"end":414},"obj":"HP_0012126"},{"id":"T6","span":{"begin":408,"end":414},"obj":"HP_0002664"},{"id":"T7","span":{"begin":431,"end":444},"obj":"HP_0003002"},{"id":"T8","span":{"begin":431,"end":444},"obj":"HP_0100013"},{"id":"T9","span":{"begin":438,"end":444},"obj":"HP_0002664"},{"id":"T10","span":{"begin":693,"end":707},"obj":"HP_0012126"},{"id":"T11","span":{"begin":701,"end":707},"obj":"HP_0002664"},{"id":"T12","span":{"begin":767,"end":780},"obj":"HP_0003002"},{"id":"T13","span":{"begin":767,"end":780},"obj":"HP_0100013"},{"id":"T14","span":{"begin":774,"end":780},"obj":"HP_0002664"}],"attributes":[{"subj":"T1","pred":"source","obj":"PubmedHPO"},{"subj":"T2","pred":"source","obj":"PubmedHPO"},{"subj":"T3","pred":"source","obj":"PubmedHPO"},{"subj":"T4","pred":"source","obj":"PubmedHPO"},{"subj":"T5","pred":"source","obj":"PubmedHPO"},{"subj":"T6","pred":"source","obj":"PubmedHPO"},{"subj":"T7","pred":"source","obj":"PubmedHPO"},{"subj":"T8","pred":"source","obj":"PubmedHPO"},{"subj":"T9","pred":"source","obj":"PubmedHPO"},{"subj":"T10","pred":"source","obj":"PubmedHPO"},{"subj":"T11","pred":"source","obj":"PubmedHPO"},{"subj":"T12","pred":"source","obj":"PubmedHPO"},{"subj":"T13","pred":"source","obj":"PubmedHPO"},{"subj":"T14","pred":"source","obj":"PubmedHPO"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10477433-3#56#66#gene999","span":{"begin":637,"end":647},"obj":"gene999"},{"id":"10477433-3#186#199#diseaseC0006142","span":{"begin":767,"end":780},"obj":"diseaseC0006142"},{"id":"10477433-3#186#199#diseaseC0678222","span":{"begin":767,"end":780},"obj":"diseaseC0678222"},{"id":"10477433-3#93#126#diseaseC1708349","span":{"begin":674,"end":707},"obj":"diseaseC1708349"}],"relations":[{"id":"56#66#gene999186#199#diseaseC0006142","pred":"associated_with","subj":"10477433-3#56#66#gene999","obj":"10477433-3#186#199#diseaseC0006142"},{"id":"56#66#gene999186#199#diseaseC0678222","pred":"associated_with","subj":"10477433-3#56#66#gene999","obj":"10477433-3#186#199#diseaseC0678222"},{"id":"56#66#gene99993#126#diseaseC1708349","pred":"associated_with","subj":"10477433-3#56#66#gene999","obj":"10477433-3#93#126#diseaseC1708349"}],"attributes":[{"subj":"10477433-3#56#66#gene999","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10477433-3#186#199#diseaseC0006142","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10477433-3#186#199#diseaseC0678222","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"10477433-3#93#126#diseaseC1708349","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":637,"end":647},"obj":"gene:999"},{"id":"T1","span":{"begin":674,"end":707},"obj":"disease:C1708349"},{"id":"T2","span":{"begin":637,"end":647},"obj":"gene:999"},{"id":"T3","span":{"begin":767,"end":780},"obj":"disease:C0006142"},{"id":"T4","span":{"begin":637,"end":647},"obj":"gene:999"},{"id":"T5","span":{"begin":767,"end":780},"obj":"disease:C0678222"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"},{"subj":"T4","pred":"source","obj":"DisGeNET"},{"subj":"T5","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"PubmedHPO","color":"#93ceec","default":true},{"id":"DisGeNET5_gene_disease","color":"#e8ec93"},{"id":"DisGeNET","color":"#d593ec"}]}]}}