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

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) (

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Bibliographische Detailangaben
Veröffentlicht in:	Breast cancer research : BCR 2019-09, Vol.21 (1), p.107-107, Article 107
Hauptverfasser:	Batalini, Felipe, Peacock, Ellie G, Stobie, Lindsey, Robertson, Alison, Garber, Judy, Weitzel, Jeffrey N, Tung, Nadine M
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles BRCA1 protein BRCA2 protein Breast cancer Breast Neoplasms - diagnosis Breast Neoplasms - genetics Cancer genetics Cancer patients Cancer therapies Chemotherapy Clonal hematopoiesis Diagnosis Diagnosis, Differential Diagnostic imaging Disease susceptibility DNA sequencing Funding Gene Frequency Genes Genes, p53 - genetics Genetic Testing Genomics Hematopoiesis Hereditary breast cancer Humans Li-Fraumeni syndrome Li-Fraumeni Syndrome - diagnosis Li-Fraumeni Syndrome - genetics Magnetic resonance imaging Mastectomy Mosaicism Mutation Next-generation sequencing Oncology Oophorectomy Ovariectomy p53 Protein Pathogenic variant Patients Population genetics Prevention Radiation (Physics) Radiation therapy Radiotherapy Review Risk factors Salpingo-oophorectomy Surgery Surveillance Tobacco TP53 Tumor proteins Tumors
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Beschreibung
Zusammenfassung:	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) (
ISSN:	1465-542X 1465-5411 1465-542X
DOI:	10.1186/s13058-019-1193-1