title: CDH1 germline mutations and hereditary lobular breast cancer.
abstract: Hereditary diffuse gastric cancer is an autosomal dominant inherited disease associated of CDH1 germline mutations (that encodes for the E-cadherin protein), and lobular breast cancer is the second most frequent type of neoplasia. Recently, novel E-cadherin constitutional alterations have been identified in pedigree clustering only for lobular breast carcinoma without evidence of diffuse gastric tumors and in absence of BRCA1/2 mutations. This first evidence opens novel questions about the inherited correlation between diffuse gastric and lobular breast cancers. In this brief review we revise the literature data about the CDH1 mutation frequency affecting exclusively lobular breast cancer, providing clinical recommendation for asymptomatic mutation carriers.
authors.affiliation: Division of Senology, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy. giovanni.corso@ieo.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corso
authors.affiliation: Division of Senology, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy.
authors.forename: Mattia
authors.initials: M
authors.lastname: Intra
authors.affiliation: Division of Breast Imaging, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Trentin
authors.affiliation: Division of Senology, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Veronesi
authors.affiliation: Division of Senology, European Institute of Oncology, via G, Ripamonti 435, 20141, Milan, Italy.
authors.forename: Viviana
authors.initials: V
authors.lastname: Galimberti
mesh_terms: D015703:Antigens, CD; D001943:Breast Neoplasms / Q000235:genetics* / Q000601:surgery; D015820:Cadherins / Q000235:genetics*; D018275:Carcinoma, Lobular / Q000235:genetics* / Q000601:surgery; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D059645:Mutation Rate
chemical_list: D015703:Antigens, CD; C513384:CDH1 protein, human; D015820:Cadherins
keywords: E-cadherin germline mutation; Hereditary breast cancer; Lobular breast cancer