UW359 Ovary 3c 3 Serous Recurrent 68 BRCA1 816delGT BRCA1 del exon 1-2. UW417 Ovary 3c 3 Serous Primary 38 BRCA1 1675delA

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1 Supplementary Table 1. Cases with deleterious germline mutations, somatic HR mutations, and somatic PTEN mutations. ID Site Stage Grade Histology Tumor Age Germline mutation(s) a Somatic HR mutation(s) a Somatic PTEN mutation a type at dx UW375 FT 2c 3 Serous Primary 53 BARD1 c.2148delca b UW54 Ovary 4 3 Serous Primary 53 BARD1 p.q715x, BRCA1 3600del11 UW338 Peritoneal 3c 3 Serous Primary 57 BRCA1 p.w1508x b ATM p.e2444x UW359 Ovary 3c 3 Serous Recurrent 68 BRCA1 816delGT BRCA1 del exon 1-2 UW382 Ovary 2c 3 Serous Primary 50 BRCA1 5382insC b CHEK2 c.1110del10 UWf4 Ovary 3c 3 Serous Primary 57 BRCA1 5382insC b PTEN c.857del7 UW424 Ovary 3c 3 Serous Primary 55 BRCA1 p.q780x b UW411 FT 3c 3 Serous Primary 55 BRCA1 1041delAGCinsT b UW417 Ovary 3c 3 Serous Primary 38 BRCA1 1675delA UW80 Ovary 3c 3 Serous Primary 41 BRCA1 187delAG UW416 Ovary 3c 3 Serous Primary 64 BRCA1 187delAG UW426 FT 3c 3 Serous Primary 63 BRCA1 187delAG UW50 Ovary 3c 3 Serous Primary 48 BRCA1 2190delA UW32 Ovary 3c 3 Serous Primary 40 BRCA1 2576delC UW65 Ovary 3c 3 Serous Primary 57 BRCA1 2594delC

2 UW40 Ovary 4 3 Serous Primary 54 BRCA1 2594delC UW100 Ovary 3c 3 Serous Primary 44 BRCA1 2798delGAAA b UW457 Ovary 3c 3 Serous Primary 50 BRCA1 2800delAA UWf161 Ovary 3c 3 Serous Primary 55 BRCA1 3059delA UW440 Ovary 3c 3 Serous Primary 50 BRCA1 3171insTGAGA UW317 Ovary 3c 3 Serous Recurrent 47 BRCA1 3171insTGAGA b UWf100 Ovary 4 3 Serous Primary 58 BRCA1 3995delT b UW238 Ovary 4 3 Serous Primary 51 BRCA1 4160delAG b UW210 Ovary 3c 3 Serous Primary 46 BRCA1 4239delAG b UW218 Ovary 4 3 Serous Primary 55 BRCA1 4603G>T splice b UW129 Ovary 4 3 Serous Primary 69 BRCA1 5301delA b UW297 Peritoneal 3c 3 Serous Primary 65 BRCA1 5382insC b UW248 Ovary 3c 3 Serous Primary 57 BRCA1 5382insC b UW36 Ovary 3c 3 Serous Primary 41 BRCA1 5396(+1)G>A splice UW357 Ovary 3c 3 Serous Primary 44 BRCA1 917delTT b UW325 Ovary 3c 3 Serous Primary 49 BRCA1 943ins10 b UW387 Ovary 3c 3 Serous Primary 52 BRCA1 del exon b

3 UW291 FT 3c 3 Serous Primary 61 BRCA1 dup exon 13 b UW208 FT 3c 3 Serous Primary 55 BRCA1 p.e1250x UW437 Ovary NA 3 Serous Recurrent 60 BRCA1 p.e1250x UW245 Ovary 3c 3 Serous Primary 49 BRCA1 p.m1775r b UW406 Ovary 3c 3 Serous Primary 47 BRCA1 p.m1i b UW454 Ovary 3c 3 Serous Primary 46 BRCA1 p.g1706e UW342 Ovary 3c 3 Poorlydifferentiated Primary 70 BRCA1 p.v1736a UW370 Ovary NA 3 Serous Primary 42 BRCA1 p.q1200x b UW305 Ovary 3c 3 Serous Primary 51 BRCA1 p.r1203x UW43 Ovary 3c 3 Serous Primary 49 BRCA1 p.w1782x UW266 Peritoneal 3c 3 Serous Primary 63 BRCA1 p.w321x b UW165 Ovary 3c 3 Endometrioid Primary 40 BRCA1 187delAG UWf77 Ovary 3a 3 Carcinosarcoma Primary 52 BRCA1 2080delA UW394 FT 1a 3 Poorlydifferentiated UW141 FT 3c 3 Poorlydifferentiated UW224 Ovary 3c 3 Poorlydifferentiated UW331 Ovary 4 3 Poorlydifferentiated Recurrent 39 BRCA1 3109insAA Primary 69 BRCA1 4154delA Primary 54 BRCA1 del exon 14 b Primary 44 BRCA1 del exon 3 b

4 UW356 FT 1c 3 Poorlydifferentiated Recurrent 61 BRCA1 p.c61g UW323 Ovary 3c 1 Serous Primary 45 BRCA2 1158delAT b UW145 Ovary 3c 3 Serous Primary 63 BRCA2 2116insA b UWf150 Ovary Na 3 Serous Primary 64 BRCA2 4075delGT UW174 Ovary 4 3 Serous Recurrent 63 BRCA2 5578delAA UW130 Ovary 3c 3 Serous Primary 53 BRCA2 6174delT b UW101 Ovary 3c 3 Serous Primary 58 BRCA2 6503delTT b UW70 Ovary 3c 3 Serous Primary 56 BRCA2 6672insT b UW78 Ovary 3c 3 Serous Primary 51 BRCA2 7297delCT UW292 Ovary 3c 3 Serous Primary 48 BRCA2 745(-2)A>G splice b UW137 Peritoneal 3c 3 Serous Primary 69 BRCA2 7846(-1)G>A splice b UW352 Ovary 3c 3 Serous Primary 49 BRCA2 p.c3097x b UW404 FT 3c 3 Serous Primary 56 BRCA2 p.e1415x b PTEN del exon 2 UW377 FT 3c 3 Serous Primary 62 BRCA2 p.k2013x b UW157 Ovary 3c 3 Poorlydifferentiated Primary 70 BRCA2 1417insTTAG b UWf2 Ovary 3c 3 Endometrioid Primary 49 BRCA2 3034delAAAC UW200 Ovary 3b 3 Poorlydifferentiated Primary 49 BRCA2 4689delAC b

5 UW340 Ovary 3c 3 Poorlydifferentiated Primary 56 BRCA2 p.y1655x b UW236 Ovary 3c 3 Serous Primary 66 BRIP1 2108delAinsTCC b UW184 Peritoneal 4 3 Poorlydifferentiated Primary 51 BRIP1 c.2010inst b UW255 Ovary 3c 3 Serous Primary 50 BRIP1 c del (part of exon 18) b UW383 Ovary 1c 1 Endometrioid Primary 47 BRIP1 p.r798x b, MSH6 p.r1035x b UW88 Ovary 3c 3 Serous Recurrent 42 CHEK1 p.q346x PTEN c.955delactt UW16 Ovary 3c 3 Serous Primary 69 CHEK2 c.1100delc BRCA2 7656delA UW186 Ovary 3c 3 Serous Primary 45 CHEK2 p.s400f b UW400 Ovary 1a 3 Clear cell Recurrent 68 CHEK2 p.s428f UW96 Ovary 3c 3 Malignant Primary 73 FAM175A c.1106insg Brenner's UW435 Ovary 1c 3 Serous Primary 54 FAM175A c.1106insg UW350 Ovary 4 3 Serous Primary 64 NBN c.1142delc b UWf103 Ovary 3b 3 Serous Primary 51 PALB2 c.1050delaaca b UW196 Peritoneal 3c 3 Serous Primary 58 PALB2 c.757delag b UW250 Ovary 2c 3 Poorlydifferentiated Primary 51 RAD51C c.224insa b UW407 Peritoneal 4 3 Carcinosarcoma Primary 70 RAD51C c A>G splice b UW419 Ovary 4 3 Serous Primary 47 RAD51C p.r193x

6 UW422 Ovary 3c 3 Serous Primary 75 RAD51D c.131_144+24del38 c UW132 Ovary 1c 3 Endometrioid Primary 34 RAD51D c.580dela c PTEN c.389delg UW181 Ovary 4 3 Poorlydifferentiated Primary 43 RAD51D p.r232x c UW468 Ovary 3c 3 Serous Primary 74 RAD51D p.y47x UW77 Ovary 3c 3 Serous Primary 82 BUB1B c.3086delg UW119 Ovary 3c 3 Serous Primary 44 MSH2 p.r929x BRCA1 3721delG UW33 Ovary 3c 2 Serous Primary 64 TP53 p.y220c UW277 Ovary 1c 2 Endometrioid Primary 64 TP53 p.r175c b UW330 FT 3c 3 Serous Primary 64 TP53 p.r175h mosaic b UW381 Ovary NA 1 Endometrioid Recurrent 67 ATM c.3284(+1)g>c splice UW408 Ovary 3c 3 Clear cell Primary 44 ATM c.5441delt PTEN c.678delc UW358 Ovary 3c 3 Clear cell Primary 29 BRCA1 1135insA, BRIP1 c.3260insa, MRE11A c.1196instt PTEN c.968insa UW109 Ovary 4 3 Poorlydifferentiated Primary 70 BRCA1 p.e1536x UW190 Ovary 3c 3 Serous Primary 76 BRCA1 2913delG UW124 Ovary 3c 3 Carcinosarcoma Primary 53 BRCA1 3481delA UW256 Ovary 3c 3 Serous Primary 72 BRCA1 3712delT

7 UW178 Ovary 1c 3 Poorlydifferentiated Primary 69 BRCA1 5397(-2)A>T splice UW23 Ovary 3c 2 Serous Primary 47 BRCA1 5451(+2)T>C splice UW133 Ovary 4 3 Serous Primary 39 BRCA1 560(+2)T>C splice UW156 Ovary 3c 3 Poorlydifferentiated Primary 53 BRCA1 dup exon UW362 Ovary 3c 3 Serous Primary 74 BRCA1 dup exon UW341 Ovary 1a 2 Endometrioid Primary 65 BRCA1 dup exon UW58 Ovary 3c 3 Serous Primary 43 BRCA1 p.e1410x UW7 Ovary 3b 3 Serous Primary 52 BRCA1 p.e670x UW201 Ovary 3c 3 Poorlydifferentiated Primary 58 BRCA1 p.e879x UW94 Peritoneal 3c 3 Poorlydifferentiated Primary 60 BRCA1 p.q172x UWf94 Ovary 3c 3 Serous Primary 62 BRCA1 p.s1457x UW95 Ovary 3c 3 Poorlydifferentiated Primary 62 BRCA2 5788delGT UW276 Ovary 3c 3 Serous Primary 62 BRCA2 6671delC UW131 Ovary 1a 2 Endometrioid Primary 80 BRCA2 p.r2494x UWf14 Ovary 1a 3 Clear cell Primary 38 BRCA2 p.s368x UW24 Ovary 3c 3 Serous Primary 67 BRCA2 p.y2854x UW243 Ovary 3c 3 Serous Primary 48 BRIP1 del exon 12-14

8 UW420 Ovary 1a 3 Clear cell Primary 50 CHEK2 del exon 1-7 UW425 FT 3c 3 Serous Primary 51 CHEK2 del exon 3-10 UW177 Ovary 3a 3 Serous Primary 64 Rad51C del exon 1-3 UW410 Ovary 3c 3 Carcinosarcoma Primary 64 PTEN c.237insc UW2 Ovary 4 3 Serous Primary 71 PTEN c.389delg UW93 Ovary 2c 3 Endometrioid Primary 66 PTEN c.801(+1)g>c splice UW403 Ovary 1c 2 Endometrioid Primary 58 PTEN c.955delactt UW386 Ovary 1c 3 Serous Primary 85 PTEN del exon 6-9 UW379 FT 4 3 Serous Primary 68 PTEN del ex 6 UW198 Ovary 3c 3 Poorlydifferentiated Primary 70 PTEN del exon 1 UW265 Ovary 3c 3 Serous Primary 82 PTEN del exon 1-3 UW82 Ovary 3c 2 Serous Primary 56 PTEN del exon 2-9 UW286 Ovary 4 3 Serous Primary 60 PTEN del exon 6-8 UW431 Ovary 4 3 Serous Primary 53 PTEN del exon 9 UW49 Ovary 1c 3 Mixed (endometrioid 90% and clear cell 10%) UW211 Peritoneal 3c 3 Poorlydifferentiated Primary 58 PTEN whole gene deletion (homozygous) Primary 68 PTEN whole gene deletion (homozygous)

9 UW309 Ovary 4 3 Poorlydifferentiated Primary 50 PTEN dup exon 3-5 UW42 Ovary 1a 3 Clear cell Primary 52 PTEN p.r233x UW61 Ovary 4 2 Serous Primary 47 PTEN p.s59x FT=fallopian tube. NA= not available/unknown. Dx= diagnosis. = not otherwise specified a Accession numbers are as follows: ATM, NM_000051; BARD1, NM_000465; BRIP1, NM_032043; BUB1B, NM_001211; CHEK1, NM_ ; CHEK2, NM_007194; FAM175A, NM_139076; MRE11A, NM_005591; MSH2, NM_000251; MSH6, NM_000179; NBN, NM_002485; PALB2, NM_024675; PTEN, NM_000314; RAD51C, NM_058216; RAD51D, NM_002878; TP53, NM_ BRCA1 and BRCA2 mutations were annotated using BIC designation ( reference sequences: BRCA1 GenBank U14680; BRCA2 GenBank U43746); all other mutations were annotated using HGVS nomenclature. b Previously reported by Walsh et al [1] c Previously reported by Wickramanyake et al [2] [1] Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, et al. Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 2011;108: [2] Wickramanyake A., Bernier G., Pennil C., Casadei S., Agnew K. J., Stray S. M., et al. Loss of function germline mutations in RAD51D in women with ovarian carcinoma. Gynecol Oncol 2012;127: