Germline mutations of the E‐cadherin gene in families with inherited invasive lobular breast carcinoma but no diffuse gastric cancer

摘要: BACKGROUND: Present data are highly suggestive but do not unequivocally prove the cosegregation of germ-line CDH1 mutations with inherited invasive lobular breast cancer (ILBC). METHODS: Two Caucasian families 6 pathologically confirmed ILBC cases no diffuse gastric (DGC) were identified in our oncogenetics consultations. Screening for CDH1, BRCA1, and BRCA2 genes was performed on blood samples. When available, loss heterozygosity (LOH) immunohistochemistry (IHC) analyses tumor samples. RESULTS: No BRCA1 or mutation found. Deleterious c.283C>T c.1582del found all 4 living women family 1 2, respectively. The also present a healthy 71-year-old male 2 obligate carriers 1. No DGC observed families. Loss wild-type allele tumors by LOH IHC studies, accordance “2-hit” model suppressor genes. CONCLUSIONS: Germline can be cosegregated absence DGC. Present support recommendation prophylactic gastrectomy germline ILBC. Cancer 2011. © 2011 American Society.