Patent SG-11201901620S-A (SG)
Title: Methods of identifying microsatellite instability
Inventor: BURN JOHN
IPC: C12Q1/68
Filed: 2017-08-23
Abstract: INTERNATIONAL APPLICATION PUBLISHED UNDER THE PATENT COOPERATION TREATY (PCT) (19) World Intellectual Property :::` , MD HIM 0 11101 010 11111 01 II 0 01111 OHM VIII E IMO MAMIE Organization International Bureau (10) International Publication Number 03 (43) International Publication Date ......°' WO 2018/037231 Al 01 March 2018 (01.03.2018) WIP0 I PCT (51) International Patent Classification: Ghanim Mehdi; District 337, Al- Shaab, Baghdad- Iraq C12Q 1/68 (2018.01) (IQ). SANTIBANEZ-KOREF, Franscisco Mauro; c/o The University of Newcastle Upon Tyne, King's Gate, New- (21) International Application Number: castle Upon Tyne Tyne and Wear NE1 7RU (GB). RED- PCT/GB2017/052488 FORD, Lisa; Likollen 70, 1481 Hagan, Norway (NO). (22) International Filing Date: JACKSON, Michael Stewart; c/o The University of New- 23 August 2017 (23.08.2017) castle Upon Tyne, Institute of Genetic Medicine, Interna- tional Centre for Life Central Parkway, Newcastle Upon (25) Filing Language: English Tyne Tyne and Wear NE1 3BZ (GB). (26) Publication Language: English (74) Agent: HGF LTD; Document Handling (HGF) York, 1 (30) Priority Data: City Walk, Leeds Yorkshire LS11 9DX (GB). 1614474.3 24 August 2016 (24.08.2016) GB (81) Designated States (unless otherwise indicated, for every (71) Applicant: THE UNIVERSITY OF NEWCASTLE UP- kind of national protection available): AE, AG, AL, AM, ON TYNE [GB/GB]; King's Gate, Newcastle Upon Tyne, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, Tyne and Wear NE1 7RU (GB). CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, (72) Inventors: BURN, John; c/o The University of Newcas- HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, tle Upon Tyne, Institute of Genetic Medicine, Internation-KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, al Centre for Life Central Parkway, Newcastle Upon Tyne MG, MK, MN, 1\4W, MX, MY, MZ, NA, NG, NI, NO, NZ, Tyne and Wear NE1 3BZ (GB) ALHILAL, Mohammed — OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, = (54) Title: METHODS OF IDENTIFYING MICROSATELLITE INSTABILITY = = A 1M14 7bp SNP1 B LR20 8bp SNP3 100 100 90 90 r 80 7.S 60 0 8 .. 70 . 60 \\ = 1 3 . 0 50 cp 40 T o ' 50 40 _ ce 30 ,,.) — 30 20 20 10 10 \ \ 0 0 A '\ = -1 0 1 -2 _ = U312T U179 H03 = C 1M65 11bp SNP2 D LR36 12bp SNP2 100 = 90 100 90 870 0 --- 0 -- 80 = w . 60 : 6 _1, - 70 u) 60 • 50 Nrt • = w 7, 3 50 • •• _ ct 40 • ,„. 0 40 7 r • _ 30 • • , — 30 • = 20 10 • , 20 10 .. • • 0 m‘s -0 0 mttA7 V / • —RI _ -4 -3 -2 - 0 1 2 -4 -3 -2 -1 0 1 2 U029T U303T Il ® A ®G .' C 5 T 1-1 FIG. 1 cr) N IN (57) : The present invention relates to methods and kits for identifying microsatellite instability (MSI) in a sample. In particular 0 en it relates to identifying microsatellite instability in a tumor sample, which may be from a subject suspected of having colorectal cancer -- --- GC or Lynch syndrome. The methods and kits can be used to identify mismatch repair defects. More particularly the invention relates to a , 1 panel of markers for a sequencing based MSI test, that can differentiate between MSI-H and MSS CRCs. The invention also allows for 0 determination of biological significance, differentiating between PCR and sequencing errors and MSI induced indels/mutations. N C [Continued on next page] WO 2018/037231 Al MIDEDIMOMOIDEIREEMOOMMEIHMIDEIBUDIMIE 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, ST, SZ, TZ, UG, ZM, ZW), Eurasian (AM, AZ, BY, KG, KZ, RU, TJ, TM), European (AL, AT, BE, BG, CH, CY, CZ, DE, DK, 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). Declarations under Rule 4.17: — of inventorship (Rule 4.17(iv)) Published: — with international search report (Art. 21(3)) — with sequence listing part of description (Rule 5.2(a))