Opening book details…
Can I read Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling on EtoBox?
Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling by Annabeth Høgh Petersen; Mads Malik Aagaard; Henriette Roed Nielsen; Karina Dahl Steffensen; Marianne Waldstrøm; Anders Bojesen is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling about?
Accurate estimation of cancer risk in HBOC families often requires __BRCA1/2__ testing, but this may be impossible in deceased family members. Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline __BRCA1/2__ variants was unsuccessful, except for the Jewish founder mutations. A high-throughput method to systematically test for variants in all coding regions of __BRCA1__/__2__ in archival FFPE samples of non-tumor tissue is described, using HaloPlex target enrichment and next-generation sequencing. In a validation study, correct identification of variants or wild-type was possible in 25 out of 30 (83%) FFPE samples (age range 1–14 years), with a known variant status in __BRCA1/2__. No false positive was found. Unsuccessful identification was due to highly degraded DNA or presence of large intragenic deletions. In clinical use, a total of 201 FFPE samples (aged 0–43 years) were processed. Thirty-six samples were rejected because of highly degraded DNA or failed library preparation. Fifteen samples were investigated to search for a known variant. In the remaining 150 samples (aged 0–38 years), three variants known to affect function and one variant li
Who reads Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Annabeth Høgh Petersen; Mads Malik Aagaard; Henriette Roed Nielsen; Karina Dahl Steffensen; Marianne Waldstrøm; Anders Bojesen
- Publisher
- Springer Science and Business Media LLC
- Published
- 2016
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)