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US 2025/0051853 A1Published application
Detection of telomere fusion events
OwnerIsidro CORTES-CIRIANO, Francesc MUYAS-REMOLAR +2inventors
InventorsIsidro CORTES-CIRIANO, Francesc MUYAS-REMOLAR, Ignacio Flores HERNÁNDEZ, Manuel José Gómez RODRÍGUEZ
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Abstract
The invention pertains to means and methods for the detection of telomere fusion events, and the use of such means and methods in the detection and diagnosis of a disease associated with telomere fusion events, such as a cancer disease.
Claims12
A method for the detection of the presence of at least one telomere fusion event, the method comprising the steps of:
- Providing a biological sample containing nucleic acids which are chromosomal nucleic acids or nucleic acids derived from one or more chromosomes, such as extra chromosomal nucleic acids;
- Detecting in the biological sample the presence or absence of at least one indicator nucleic acid which is characterized by having a nucleic acid sequence comprising a first sequence stretch and a second sequence stretch on the same nucleic acid strand, wherein,
- the first sequence-stretch is a sequence of at least 12 directly adjacent (or closely adjacent) nucleic acid base pairs (bp) within the sequence:
- GGGTTAGGGTTAGGGTTA (SEQ ID NO:
- 1), wherein the first sequence stretch may not comprise more than two, preferably no more than one, bp variation within this sequence;
- the second sequence-stretch is a sequence of at least 12 directly adjacent (or closely adjacent) nucleic acid bp within the sequence:
- CCCTAACCCTAACCCTAA (SEQ ID NO:
- 2), wherein the second sequence stretch may not comprise more than two, preferably no more than one, bp variation within this sequence;
- wherein the presence of the at least one indicator nucleic acid sequence indicates the presence of the at least one telomere fusion event.
6 more elements
A method for the detection of the presence of at least one telomere fusion event, the method comprising the steps of:
- Providing a dataset of nucleic acid sequencing reads, wherein the dataset of nucleic acid sequencing reads is obtained by Sanger sequencing, next generation sequencing (NGS) or long-read sequencing of nucleic acids of nucleic acids derived from a cellular sample;
- Detecting within the dataset of nucleic acid sequencing reads the presence or absence of at least one indicator sequencing read which is characterized by having a nucleic acid sequence comprising a first sequence stretch and a second sequence stretch on the same strand, wherein
- the first sequence-stretch is a sequence of at least 12 directly adjacent (or closely adjacent) nucleic acid base pairs (bp) within the sequence:
- GGGTTAGGGTTAGGGTTA (SEQ ID NO:
- 1), wherein the first sequence stretch may not comprise more than two, preferably no more than one, bp variation within this sequence;
- the second sequence-stretch is a sequence of at least 12 directly adjacent (or closely adjacent) nucleic acid bp within the sequence:
- CCCTAACCCTAACCCTAA (SEQ ID NO:
- 2), wherein the second sequence stretch may not comprise more than two, preferably no more than one, bp variation within this sequence;
- wherein the presence of the at least one indicator nucleic acid sequencing read indicates the presence of the at least one telomere fusion event.
6 more elements
Dependencies are inferred from the claim text.