{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T03:29:32Z","timestamp":1793158172241,"version":"4.5.0"},"reference-count":16,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,5,13]]},"published-print":{"date-parts":[[2011,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Germline mutations in <jats:italic>CDH1<\/jats:italic> are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs excessively in families with such condition.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Method<\/jats:title>\n                  <jats:p>To determine if <jats:italic>CDH1<\/jats:italic> is a susceptibility gene for lobular breast cancer in women without a family history of diffuse gastric cancer, germline DNA was analysed for the presence of <jats:italic>CDH1<\/jats:italic> mutations in 318 women with lobular breast cancer who were diagnosed before the age of 45\u2005years or had a family history of breast cancer and were not known, or known not, to be carriers of germline mutations in <jats:italic>BRCA1<\/jats:italic> or <jats:italic>BRCA2<\/jats:italic>. Cases were ascertained through breast cancer registries and high-risk cancer genetic clinics (Breast Cancer Family Registry, the kConFab and a consortium of breast cancer genetics clinics in the United States and Spain). Additionally, Multiplex Ligation-dependent Probe Amplification was performed for 134 cases to detect large deletions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>No truncating mutations and no large deletions were detected. Six non-synonymous variants were found in seven families. Four (4\/318 or 1.3%) are considered to be potentially pathogenic through in vitro and in silico analysis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Potentially pathogenic germline <jats:italic>CDH1<\/jats:italic> mutations in women with early-onset or familial lobular breast cancer are at most infrequent.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2010.079814","type":"journal-article","created":{"date-parts":[[2010,10,4]],"date-time":"2010-10-04T23:15:16Z","timestamp":1286234116000},"page":"64-68","source":"Crossref","is-referenced-by-count":73,"title":["Germline mutations in <i>CDH1<\/i> are infrequent in women with early-onset or familial lobular breast cancers"],"prefix":"10.1136","volume":"48","author":[{"given":"K 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