17 results on '"Founder mutations"'
Search Results
2. Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews
3. Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications
4. Double heterozygosity for TP53 and BRCA1 mutations: clinical implications in populations with founder mutations
5. Online BRCA1/2 screening in the Australian Jewish community: a qualitative study
6. Prevalence of CNV-neutral structural genomic rearrangements in MLH1, MSH2, and PMS2 not detectable in routine NGS diagnostics
7. Ashkenazi Jewish genomic variants: integrating data from the Israeli National Genetic Database and gnomAD
8. The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer
9. Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry
10. Underestimated survival predictions of the prognostic tools Adjuvant! Online and PREDICT in BRCA1-associated breast cancer patients
11. The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent
12. Two BRCA1/2 founder mutations in Jews of Sephardic origin
13. Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families
14. Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family
15. Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control
16. Two founder BRCA2 mutations predispose to breast cancer in young women
17. The 1100delAT BRCA1 and the 8765delAG BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews and Haplotype Comparison of Jewish and Non-Jewish Carriers
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