CDH1 germline mutations: different syndromes, same management?
نویسندگان
چکیده
منابع مشابه
Beckwith–Wiedemann and IMAGe syndromes: two very different diseases caused by mutations on the same gene
Genomic imprinting is an epigenetically regulated mechanism leading to parental-origin allele-specific expression. Beckwith-Wiedemann syndrome (BWS) is an imprinting disease related to 11p15.5 genetic and epigenetic alterations, among them loss-of-function CDKN1C mutations. Intriguing is that CDKN1C gain-of-function variations were recently found in patients with IMAGe syndrome (intrauterine gr...
متن کاملGermline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers
BACKGROUND Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs excessively in families with such condition. METHOD To determine if CDH1 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 CDH1 mutations in 318 women with lobu...
متن کاملIdentification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.
Orofacial clefts (OFC) are among the most common birth defects worldwide. The etiology of non-syndromic OFC is still largely unknown. During embryonic development, the cell adhesion molecule E-cadherin, encoded by CDH1, is highly expressed in the median edge epithelium of the palate. Furthermore, in multiple families with CDH1 mutations, OFC cases are observed. To determine whether CDH1 is a ca...
متن کاملProphylactic total gastrectomy for individuals with germline CDH1 mutation.
BACKGROUND Germline mutation of the CDH1 gene, which encodes for the E-cadherin adhesion protein, is rare but confers an estimated lifetime risk of hereditary diffuse gastric cancer of 87%. Fewer than 100 prophylactic total gastrectomies have been reported for this condition. METHODS Patients with germline CDH1 mutation who underwent multidisciplinary counseling followed by prophylactic total...
متن کاملGermline CDH1 deletions in hereditary diffuse gastric cancer families
Germline CDH1 point or small frameshift mutations can be identified in 30-50% of hereditary diffuse gastric cancer (HDGC) families. We hypothesized that CDH1 genomic rearrangements would be found in HDGC and identified 160 families with either two gastric cancers in first-degree relatives and with at least one diffuse gastric cancer (DGC) diagnosed before age 50, or three or more DGC in close r...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2017
ISSN: 1098-3600,1530-0366
DOI: 10.1038/gim.2017.24