P Guilford

..Here, we investigated whether c-Src kinase, an established inducer of invasive states, contributes to the progression from ALH/LCIS to ILC...

..Recently, a new regulatory region essential for CDH1 transcription has been identified in CDH1 intron 2...

..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...

..All the recessively inherited genes have been implicated in the maintenance of genome stability. This review summarises our current understanding of the functions of the major cancer susceptibility genes...

..These results describe, to our knowledge for the first time, a molecular basis for familial gastric cancer, and confirm the important role of E-cadherin mutations in cancer...

..Together with the occurrence of extra-gastric tumours such as lobular breast and colorectal cancer, these findings further extend the types of CDH1 mutations and the spectrum of tumours associated with HDGC...

..Here, we review the identified families, mutations, and proposed mechanisms by which E-cadherin loss promotes tumorigenesis...

..Germline mutation of the E-cadherin gene predisposes to diffuse, poorly differentiated gastric cancer, and its downregulation in sporadic tumours is associated with poor clinical prognosis...

..The study investigated characteristics of adrenomedullin in endometrial cancer to assist in identifying targets for developing treatments...

..Germline mutations in the E-cadherin gene (CHD1) have been described that result in the development of diffuse hereditary gastric cancer in young patients...

..CDH1 promoter hypermethylation seems a key event in the carcinogenetic process of poorly differentiated, diffuse gastric cancer and it deserves further investigation as a new target for anticancer therapies with demethylating agents...

..Targeting the transitional zone would maximise the likelihood of finding foci in macroscopically normal gastrectomies, and particular attention should be paid to this area during endoscopy...

..They also lend support to the hypothesis that KIT mutations primarily take place during embryogenesis such that primordial germ cells with KIT mutations are distributed to both testes...

..The results of annual chromoendoscopic surveillance using the methylene blue/congo red technique in 33 mutation carriers over a five year period are described...

..A multipoint analysis gave a maximum lod score of 4.66 with a most likely location close to locus D13S175. This suggests that different mutations in NSRD1 may cause both dominant and recessive neurosensory deafness...

..The murine homologue of OMP is tightly linked to the autosomal recessive deafness gene sh-1. These results, and clinical data, suggest that NSRD2 is the human homologue of the mouse sh-1 gene...

..These data map this neurosensory deafness gene to the same region of chromosome 13q as the gene for severe, childhood autosomal recessive muscular dystrophy...

..YAC screening of a cDNA library derived from mouse cochlea allowed us to identify an alpha-tubulin gene (TUBA2) that was subsequently precisely mapped within the candidate region...

..Thus USH1B appears as a primary cytoskeletal protein defect. These results implicate the genes encoding other unconventional myosins and their interacting proteins as candidates for other genetic forms of Usher syndrome...