Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study United Kingdom and Ireland Renal Transplant Consortium (UKIRTC) and the Wellcome Trust Case Control Consortium (WTCCC)-3, Jun 2018, In: American journal of transplantation: official journal of the American Society of Transplantation and the American Society .
Communicated by Ellen Solomon Ethnic differences in cancer incidence and mortality result from differences in genetic and epidemiologic risk factors. Mutations in BRCA1 and BRCA2 account for a small proportion of all breast cancer cases, but breast cancer patients in Japan have estimated the prevalence of mutations in the BRCA1 gene. Through.
Since the breast cancer susceptibility gene BRCA1 was isolated (Miki et al., 1994), more than 300 disruptive germline mutations within the coding region of the gene have been identified in cases.
We screened index cases from 410 Spanish breast/ovarian cancer families and 214 patients (19 of them males) with breast cancer for germ‐line mutations in the BRCA1 and BRCA2 genes, using SSCP, PTT, CSGE, DGGE, and direct sequencing. We identified 60 mutations in BRCA1 and 53 in BRCA2.Of the 53 distinct mutations observed, 11 are novel and 12 have been reported only in Spanish families (41.5%).