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Table 3 Characteristics of the 133 families with deleterious BRCA1/2 mutations

From: Spectrum and prevalence of BRCA1/2 germline mutations in Pakistani breast cancer patients: results from a large comprehensive study

Family No. of cancers Age at onset (years) Other cancer(s)c
(age at onset in years)
Ethnicity
Female BC (Bilateral) OC (OC+BC) BC OC
Families carrying BRCA1-small-range mutations
 236a 1 - 22b - - Pathan
 316 1 - 25b - - Punjabi
 264 1 - 26b - - Punjabi
 706 1 - 26b - Uterus (67) Punjabi
 N12 1 - 26b - - Punjabi
 624 1 - 27b - - Punjabi
 N25 1 - 28b - - Punjabi
 276a 1 - 28b - - Punjabi
 610 1 - 28b - - Punjabi
 678 1 - 28b - - Punjabi
 411a 1 - 29b - Stomach (70) Punjabi
 724 1 - 29b - Renal (48), lung (65), throat (65), unknown Punjabi
 N28 1 - 30b - - Punjabi
 279a 1(1) - 27/36b - - Punjabi
 278 2 - 25b,32 - - Kashmiri
 332a 2 - 26b,51 - Leukemia (45) Punjabi
 682 2 - 28b,40 - Uterus (<62,65), throat (<72) Punjabi
 N18 2 - 29b,<50 - - Punjabi
 421a 2 - 30b,33 - - Punjabi
 432 2 - 30b,53 - Skin (12), oral (54) Punjabi
 520 2 - 30b,47 - Uterus (32) Punjabi
 449 2 - 32b,55 - - Punjabi
 557a 2 - 32b,45 - Unknown (<55), renal (70) Punjabi
 747 2 - 33b,38 - - Unknown
 722 2 - 20,34b - Unknown (<18,<40) Punjabi
 687 2 - 37b,45 - - Punjabi
 470a 2 - 40b,40 - Stomach (46), colon (59), lung Punjabi
 510a 2 - 40b,55 - - Punjabi
 N13a 2 - 40b,>50 - - Punjabi
 593 2 - 43,44b - Leukemia (22) Pathan
 299 2(1) - 24/27b,55 - - Punjabi
 660a 2(1) - 25/26b,70 - Bladder Punjabi
 260 2(1) - 25/26b,28 - - Punjabi
 511 2(1) - 30/33b,<32 - Brain (75) Punjabi
 N34 3 - 24b,<30,31 - - Punjabi
 669a 3 - 25b,<40,<50 - Brain (<78), oral (<80) Punjabi
 685 3 - 26b,26,? - Blood (2x) Mohajir
 723 3 - 28b,40,? - - Pathan
 612 3 - 29b,<30,40 - Throat (45), uterus (48) Punjabi
 313a 3 - 30b, 48,? - - Punjabi
 336a 3 - 23,30b,38 - Prostate (29) Punjabi
 493a 3 - 35b,55,>55 - - Pathan
 382 3 - 36b,50,? - - Punjabi
 489a 3 - 25,42b,45 - - Punjabi
 743 3 - 40,44b,62 - Bone (60), leukemia (60) Pathan
 658 3 - 26,44b,50 - - Punjabi
 377a 3 - 31,50b,85 - Thyroid (59), intestine (70), bladder (75), liver Punjabi
 550d 3 - 50b,55,>50 - Lung, unknown Punjabi
 372 3(1) - 21/21b,29,45 - Squamous cell carcinoma scalp (22)b Pathan
 626a 3(1) - 35b,36/37, 42 - - Balochi
 389 3(1) - 22/32,42,48b - Brain (36), uterus (70) Punjabi
 247a 4 - 27,28b,40,42 - Uterus (31, 55) Siriaki
 652a 4 - 31b,33,42,50 - - Punjabi
 362 4 - 31,32,35b,45 - Liver (>40), abdomen Pathan
 399a 4 - 43, 44b,50,? - Abdomen (45), lung (45), prostate (53) Punjabi
 338a 4 - 30,40,44,48b - Stomach (73) Punjabi
 408a 4(1) - 24b,31/31,33,50 - Abdomen (54), esophagus (74) Punjabi
 521 4(1) - 25/38b,27,33,70 - Stomach (60, 65), lung, unknown Punjabi
 653 5 - 24,32,35b,37,50 - Colon (42), throat (66) Punjabi
 734 5 - 37,38b,55,?,? - - Punjabi
 296 7(1) - 21b,<30,34,43,44/44,51,52 - - Punjabi
 439 8 - 30,<35,40b,40,40,40,>50,>65 - Uterus (40), prostate, unknown Punjabi
 249a 8(1) - 30/31b,37,45,?,?,?,?,? - - Punjabi
 619a 1 1 30b >50 - Punjabi
 646 1 1(1) 34b 36b - Punjabi
 748 1 1(1) 47b 52b Skin (45), liver (50) Punjabi
 542 1 2(1) 40b 46b,70 Leukemia (74) Punjabi
 210a 1 4 45b ?,?,?,? Brain (32), abdomen, lung, leukemia Punjabi
 241a 2 1 29b,64 35 Lymphoma Punjabi
 598a 2 1 30b,56 >50 Stomach (>50, >50), tongue (>50) Punjabi
 463 2 1 35b,58 48 - Punjabi
 481 2 1 <25,47b 36 Lung (55), uterus Punjabi
 621 2 1 50,>60 50b Prostate (65) Punjabi
 211a 2 1(1) 26b,50 50 - Punjabi
 415a 2 1(1) 34,35b 35b Leukemia (45), unknown Punjabi
 679 2 1(1) 28b,<33 49b - Punjabi
 N4a 2 1 (1) 41b,45 45 Uterus (38) Punjabi
 488a 2 2(1) 40b,55 42b,45 - Punjabi
 555 2 2(1) 29b,36 36b,>50 Leukemia (10), vocal cord (45) Punjabi
 317 2 3(1) 41,46 47b,52,55 Fallopian tube (47)b Punjabi
 318a 2 4(2) 40,46b 40,42b,44,58 Bladder (50, 50) Pathan
 442 2(1) 2 34,50/50b 28,52 Leukemia (15) Punjabi
 283a 2(1) 3 34/38b,56 54,55,65 - Pathan
 254a 3 1 27,32b,43 41 Brain Punjabi
 711 3 1 40b,?,? ? Gall bladder Sindhi
 445a 3 1(1) 44b,>60,73 74 Gall bladder Punjabi
 363 3 2 32,35,70 47b, ? Lung (65), oral (70), liver Kashmiri
 329a 3 3 34b,39,? 39,<50,? - Punjabi
 609a 4(1) 1 29b,31,48/55,65 30 - Mohajir
 328a 4 1 29,30b,31,39 55 - Punjabi
 501 4 1 34b, 35, >50,? ? Brain (42) Punjabi
 522 4 2(1) 30b,<40,45,45 35,60 Uterus (41) Punjabi
 611a 4 2(1) 31b,36,37,42 50,55 Blood (30) Punjabi
 523a 3(1) 4 39/46,40,53b 30,45,51,60 - Punjabi
 275a 4(1) 1(1) 34/40b,40,42,50 40 - Punjabi
 469 5 1(1) 29b,29,<35,>35,>55 32b - Mohajir
 340a 6 1 34b,42,<50,<50,<50,<50 54 - Balochi
 574a 6 2 32,32,35,45b,48,>50 48,55 - Mohajir
 512a 6(1) 1 <25,<30,<40,46/55b,<50,>50 <50 Uterus (<50) Kashmiri
 248a 7 2(2) 23b,<25,34,<40,<46,<60,? 23b,<60 - Punjabi
 220a 8 1(1) 25,27b,<30,53,58,63,77 <30 - Punjabi
Families carrying BRCA1-LGRsa
 229 1 - 28b - - Punjabi
 379 2 - 29,31b - Liver (38) Punjabi
 261 2 - 33,34b - - Punjabi
 406 2 - 39b,40 - Abdomen (65) Punjabi
 498 2 - 40,41b - - Siriaki
 549 2 - 38,72b - Unknown Punjabi
 314 6 - 32b,42,56,70,?,? - Uterus (54), pharynx (59), brain (63), abdomen Punjabi
 291 3 1 39,42,48 48b Stomach, brain Punjabi
 719 3(1) 1 >40,42b,? ? - Punjabi
Families carrying BRCA2-small-range mutations
 330 1 - 29b - Lung (48, 58, 66), tongue (55) Punjabi
 206 1 - 30b - - Pathan
 540d 1 - 67b - - Mohajir
 207d 1 - 76b - Intestine (60) Punjabi
 295a 1(1) - 23/23b - Leukemia (49), esophagus (50) Punjabi
 N26 2 - 26b,35 - - Pathan
 602 2 - 31b,43 - - Punjabi
 492 2 - 38b,39 - - Mohajir
 505 2 - 43,46b - - Pathan
 713 2 - 35,56b - - Kashmiri
 700 2(1) - 35/43b,46 - Throat (72) Punjabi
 627 2(1) - 42b,51/51 - - Pathan
 545 3 - 35,36b,47 - Brain (50), uterus (50), bone (54) Punjabi
 497 3 - 51b,55,50 - Brain Siriaki
 548d 3 - 45,50,69b - - Pathan
 702 4 - 26,30b,<33,70 - Throat (72) Punjabi
 579 4 - 35,49,<50,51b - Oral (35), gall bladder (42) Kashmiri
 407d 4 - 31,45(male),45,54b - Esophagus (39,59), leukemia (64) Mohajir
 538 5 - 34b,38,45,50,58 - Retinoblastoma (3), pancreas (75), liver (83) Pathan
 684 5 - 40b,45,48,50,<57 - Throat (<48, <82), stomach (53), intestine (60) Pathan
 447 3(1) 2 31b,<50,55/65 50,>50 Abdomen (>50), colon (62), brain (65) Punjabi
 525 4(1) 1 32,33/35b,<50,60 <45 Bladder (>60) Mohajir
 222 7 2(1) 35,42,43,50,54b,60,? 47,53b Lung (60), prostate (70), lung Kashmiri
  1. BC breast cancer, OC ovarian cancer, Unknown cancer phenotype is not known
  2. aMutations previously described [11, 18]; bProband; cAge at cancer diagnosis is mentioned along with cancer phenotype. For relatives with unknown age at cancer onset, only cancer phenotype is mentioned; dFamilies with male breast cancer