WO2023133131 - METHODS FOR CANCER DETECTION AND MONITORING

National phase entry:
Publication Number WO/2023/133131
Publication Date 13.07.2023
International Application No. PCT/US2023/010101
International Filing Date 04.01.2023
Title **
[English] METHODS FOR CANCER DETECTION AND MONITORING
[French] PROCÉDÉS DE DÉTECTION ET DE SUIVI DU CANCER
Applicants **
NATERA, INC.
Inventors
KALASHNIKOVA, Ekaterina
WU, Hsin-Ta
MEHTA, Samay
SALARI, Raheleh
ZIMMERMANN, Bernhard
BILLINGS, Paul
ALESHIN, Alexey
Priority Data
63/296,394   04.01.2022   US
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Quotation for National Phase entry

Country StagesTotal
China Filing, Examination, Granting3421
EPO Filing, Examination, Granting15603
Japan Filing, Examination, Granting2315
South Korea Filing, Examination, Granting2366
USA Filing, Examination, Granting5640
MasterCard Visa
Total: 29,345

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Abstract[English] The invention provides methods for preparing a preparation of amplified DNA derived from a biological sample of a patient who has been diagnosed with cancer useful for determining relapse or metastasis of cancer, comprising (a) sequencing DNA isolated from hematopoiesis cells in a blood or bone marrow sample of the patient or a fraction thereof to determine the presence or absence of one or more clonal hematopoiesis of indeterminate potential (CHIP) mutations; (b) sequencing (i) DNA isolated from a tumor biopsy sample of the patient or (ii) cell-free DNA isolated from the blood or bone marrow sample or a fraction thereof, to identify a plurality of patient-specific somatic mutations associated with the cancer; (c) preparing a preparation of amplified DNA by performing targeted multiplex amplification on cell-free DNA isolated from a longitudinally collected biological sample of the patient or a fraction thereof to amply a plurality of target loci to obtain amplified DNA, wherein each of the target loci spans a patient-specific somatic mutation identified in step (b) and does not span any CHIP mutation identified in step (a), wherein the biological sample is a blood, urine, or bone marrow sample; and (d) analyzing the preparation of amplified DNA by sequencing the amplified DNA to determine the presence or absence of the patient-specific somatic mutations, wherein the presence of two or more patient-specific somatic mutations associated with the cancer and the presence of one or more CHIP mutations are indicative of relapse or metastasis of the cancer.[French] chacun des loci cibles couvre une mutation somatique spécifique du patient identifiée à l'étape (b) et ne couvre aucune mutation CHIP identifiée à l'étape (a), l'échantillon biologique étant un échantillon sanguin, urinaire ou de moelle osseuse ; et (d) analyse de la préparation d'ADN amplifié par séquençage de l'ADN amplifié pour déterminer la présence ou l'absence des mutations somatiques spécifiques du patient, la présence d'au moins deux mutations somatiques spécifiques du patient associées au cancer et la présence d'une ou plusieurs mutations CHIP indiquant une rechute ou une métastase du cancer.

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