Patent SG-11201408113Q-A (SG)
Title: Mutational analysis of plasma dna for cancer detection
Inventor: LO YUK-MING DENNIS
IPC: C12Q1/68
Filed: 2013-06-14
Abstract: (12) INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property Organization International Bureau (43) International Publication Date 27 December 2013 (27.12.2013) WIPOIPCT (10) International Publication Number WO 2013/190441 A3 (51) International Patent Classification: C12Q 1/68 (2006.01) (21) International Application Number: (22) International Filing Date: (25) Filing Language: (26) Publication Language: PCT/IB2013/054898 14 June 2013 (14.06.2013) English English (30) Priority Data: 61/662,878 61/682,725 61/695,795 61/711,172 13/801,748 21 June 2012 (21.06.2012) US 13 August 2012 (13.08.2012) US 31 August 2012 (31.08.2012) US 8 October 2012 (08.10.2012) US 13 March 2013 (13.03.2013) US (71) Applicant: THE CHINESE UNIVERSITY OF HONG KONG [CN/CN]; Knowledge Transfer Office, Shatin, New Territories, Hong Kong, SAR (CN). (72) Inventor; and (71) Applicant CHIU, : Wai, Kwun, Rossa [AU/CN]; House 31, Double Haven, 52 Ma Lok Path, Shatin, New Territor­ ies, Hong Kong (CN). (72) Inventors: LO, Yuk-Ming, Dennis; 4th Floor, 7King Tak Street, Homantin Kowloon, Hong Kong (SAR) (CN). CHAN, Kwan, Chee; Flat A, 13/F, Block 34, Broadway Street, Mei Foo Sun Chuen, Kowloon, Hong Kong SAR (CN). JIANG, Peiyong; Flat 7. 1st floor of Block B, Kwong Lam Court, Nos 62-66 Siu Lek Yuen Road, Shatin New Territories, Hong Kong SAR (CN). (74) Agent: GRIFFITH HACK & CO; Level 10, 161 Collins Street, Melbourne, Victoria 3000 (AU). (81) Designated States (unless otherwise indicated, for every kind of national protection available)'. AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IS, JP, KE, KG, KN, KP, KR, KZ, LA, LC, LK, LR, LS, LT, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW. (84) Designated States (unless otherwise indicated, for every kind of regional protection available)'. ARIPO (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, [Continued on next page] (54) Title: MUTATIONAL ANALYSIS OF PLASMA DNA FOR CANCER DETECTION Receive one or mare sequenced tags for each of a plurality of D.N A fragTaeDts m a biological >amaic of the ss;bjecl genomic positions for tlie ^tqu-Jiiced i; (57) Abstract: A frequency of somatic mutations in biological sample a (e.g., plasma or serum) of a subject undergoing screening or monitoring for cancer, can be compared with that in the constitutional DNA of the same subject. A parameter can derived from these frequencies and used to determine a classi­ fication of a level of cancer. False positives can be filtered out by requiring any variant locus to have at least a specified number of variant sequence reads (tags), thereby providing a more accurate parameter. The relative frequencies for different variant loci can be analyzed to determine level of heterogeneity a of tumors in a patient. Determine a first n N sequence h? rhe co a sequence variant retain s tutiona^ genome WO 2013/190441 A3 I lllll llllllll II llllll III lllll lllll III III III lllll lllll lllll lllll llll lllll lllllll llll llll llll EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR), OAPI (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG). Published: — with international search report (Art. 21(3)) — before the expiration of the time limit for amending the claims and to be republished in the event of receipt of amendments (Rule 48.2(h)) (88) Date of publication of the international search report: 27 February 2014