Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis
| Title: | Li-Fraumeni syndrome: not a straightforward diagnosis anymore—the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis |
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| Authors: | Felipe Batalini, Ellie G. Peacock, Lindsey Stobie, Alison Robertson, Judy Garber, Jeffrey N. Weitzel, Nadine M. Tung |
| Source: | Breast Cancer Research, Vol 21, Iss 1, Pp 1-10 (2019) |
| Publisher Information: | BMC, 2019. |
| Publication Year: | 2019 |
| Collection: | LCC:Neoplasms. Tumors. Oncology. Including cancer and carcinogens |
| Subject Terms: | Mutation, Pathogenic variant, TP53, Li-Fraumeni syndrome, Hereditary breast cancer, Clonal hematopoiesis, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282 |
| More Details: | Abstract The introduction of next-generation sequencing has resulted in testing multiple genes simultaneously to identify inherited pathogenic variants (PVs) in cancer susceptibility genes. PVs with low minor allele frequencies (MAFs) ( |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 1465-542X 49503561 |
| Relation: | http://link.springer.com/article/10.1186/s13058-019-1193-1; https://doaj.org/toc/1465-542X |
| DOI: | 10.1186/s13058-019-1193-1 |
| Access URL: | https://doaj.org/article/ec32db004ab8481dbdebc4950356163f |
| Accession Number: | edsdoj.32db004ab8481dbdebc4950356163f |
| Database: | Directory of Open Access Journals |
| ISSN: | 1465542X 49503561 |
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| DOI: | 10.1186/s13058-019-1193-1 |
| Published in: | Breast Cancer Research |
| Language: | English |