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

 236^a

1

-

22^b

-

-

Pathan

 316

1

-

25^b

-

-

Punjabi

 264

1

-

26^b

-

-

Punjabi

 706

1

-

26^b

-

Uterus (67)

Punjabi

 N12

1

-

26^b

-

-

Punjabi

 624

1

-

27^b

-

-

Punjabi

 N25

1

-

28^b

-

-

Punjabi

 276^a

1

-

28^b

-

-

Punjabi

 610

1

-

28^b

-

-

Punjabi

 678

1

-

28^b

-

-

Punjabi

 411^a

1

-

29^b

-

Stomach (70)

Punjabi

 724

1

-

29^b

-

Renal (48), lung (65), throat (65), unknown

Punjabi

 N28

1

-

30^b

-

-

Punjabi

 279^a

1(1)

-

27/36^b

-

-

Punjabi

 278

2

-

25^b,32

-

-

Kashmiri

 332^a

2

-

26^b,51

-

Leukemia (45)

Punjabi

 682

2

-

28^b,40

-

Uterus (<62,65), throat (<72)

Punjabi

 N18

2

-

29^b,<50

-

-

Punjabi

 421^a

2

-

30^b,33

-

-

Punjabi

 432

2

-

30^b,53

-

Skin (12), oral (54)

Punjabi

 520

2

-

30^b,47

-

Uterus (32)

Punjabi

 449

2

-

32^b,55

-

-

Punjabi

 557^a

2

-

32^b,45

-

Unknown (<55), renal (70)

Punjabi

 747

2

-

33^b,38

-

-

Unknown

 722

2

-

20,34^b

-

Unknown (<18,<40)

Punjabi

 687

2

-

37^b,45

-

-

Punjabi

 470^a

2

-

40^b,40

-

Stomach (46), colon (59), lung

Punjabi

 510^a

2

-

40^b,55

-

-

Punjabi

 N13^a

2

-

40^b,>50

-

-

Punjabi

 593

2

-

43,44^b

-

Leukemia (22)

Pathan

 299

2(1)

-

24/27^b,55

-

-

Punjabi

 660^a

2(1)

-

25/26^b,70

-

Bladder

Punjabi

 260

2(1)

-

25/26^b,28

-

-

Punjabi

 511

2(1)

-

30/33^b,<32

-

Brain (75)

Punjabi

 N34

3

-

24^b,<30,31

-

-

Punjabi

 669^a

3

-

25^b,<40,<50

-

Brain (<78), oral (<80)

Punjabi

 685

3

-

26^b,26,?

-

Blood (2x)

Mohajir

 723

3

-

28^b,40,?

-

-

Pathan

 612

3

-

29^b,<30,40

-

Throat (45), uterus (48)

Punjabi

 313^a

3

-

30^b, 48,?

-

-

Punjabi

 336^a

3

-

23,30^b,38

-

Prostate (29)

Punjabi

 493^a

3

-

35^b,55,>55

-

-

Pathan

 382

3

-

36^b,50,?

-

-

Punjabi

 489^a

3

-

25,42^b,45

-

-

Punjabi

 743

3

-

40,44^b,62

-

Bone (60), leukemia (60)

Pathan

 658

3

-

26,44^b,50

-

-

Punjabi

 377^a

3

-

31,50^b,85

-

Thyroid (59), intestine (70), bladder (75), liver

Punjabi

 550^d

3

-

50^b,55,>50

-

Lung, unknown

Punjabi

 372

3(1)

-

21/21^b,29,45

-

Squamous cell carcinoma scalp (22)^b

Pathan

 626^a

3(1)

-

35^b,36/37, 42

-

-

Balochi

 389

3(1)

-

22/32,42,48^b

-

Brain (36), uterus (70)

Punjabi

 247^a

4

-

27,28^b,40,42

-

Uterus (31, 55)

Siriaki

 652^a

4

-

31^b,33,42,50

-

-

Punjabi

 362

4

-

31,32,35^b,45

-

Liver (>40), abdomen

Pathan

 399^a

4

-

43, 44^b,50,?

-

Abdomen (45), lung (45), prostate (53)

Punjabi

 338^a

4

-

30,40,44,48^b

-

Stomach (73)

Punjabi

 408^a

4(1)

-

24^b,31/31,33,50

-

Abdomen (54), esophagus (74)

Punjabi

 521

4(1)

-

25/38^b,27,33,70

-

Stomach (60, 65), lung, unknown

Punjabi

 653

5

-

24,32,35^b,37,50

-

Colon (42), throat (66)

Punjabi

 734

5

-

37,38^b,55,?,?

-

-

Punjabi

 296

7(1)

-

21^b,<30,34,43,44/44,51,52

-

-

Punjabi

 439

8

-

30,<35,40^b,40,40,40,>50,>65

-

Uterus (40), prostate, unknown

Punjabi

 249^a

8(1)

-

30/31^b,37,45,?,?,?,?,?

-

-

Punjabi

 619^a

1

1

30^b

>50

-

Punjabi

 646

1

1(1)

34^b

36^b

-

Punjabi

 748

1

1(1)

47^b

52^b

Skin (45), liver (50)

Punjabi

 542

1

2(1)

40^b

46^b,70

Leukemia (74)

Punjabi

 210^a

1

4

45^b

?,?,?,?

Brain (32), abdomen, lung, leukemia

Punjabi

 241^a

2

1

29^b,64

35

Lymphoma

Punjabi

 598^a

2

1

30^b,56

>50

Stomach (>50, >50), tongue (>50)

Punjabi

 463

2

1

35^b,58

48

-

Punjabi

 481

2

1

<25,47^b

36

Lung (55), uterus

Punjabi

 621

2

1

50,>60

50^b

Prostate (65)

Punjabi

 211^a

2

1(1)

26^b,50

50

-

Punjabi

 415^a

2

1(1)

34,35^b

35^b

Leukemia (45), unknown

Punjabi

 679

2

1(1)

28^b,<33

49^b

-

Punjabi

 N4^a

2

1 (1)

41^b,45

45

Uterus (38)

Punjabi

 488^a

2

2(1)

40^b,55

42^b,45

-

Punjabi

 555

2

2(1)

29^b,36

36^b,>50

Leukemia (10), vocal cord (45)

Punjabi

 317

2

3(1)

41,46

47^b,52,55

Fallopian tube (47)^b

Punjabi

 318^a

2

4(2)

40,46^b

40,42^b,44,58

Bladder (50, 50)

Pathan

 442

2(1)

2

34,50/50^b

28,52

Leukemia (15)

Punjabi

 283^a

2(1)

3

34/38^b,56

54,55,65

-

Pathan

 254^a

3

1

27,32^b,43

41

Brain

Punjabi

 711

3

1

40^b,?,?

?

Gall bladder

Sindhi

 445^a

3

1(1)

44^b,>60,73

74

Gall bladder

Punjabi

 363

3

2

32,35,70

47^b, ?

Lung (65), oral (70), liver

Kashmiri

 329^a

3

3

34^b,39,?

39,<50,?

-

Punjabi

 609^a

4(1)

1

29^b,31,48/55,65

30

-

Mohajir

 328^a

4

1

29,30^b,31,39

55

-

Punjabi

 501

4

1

34^b, 35, >50,?

?

Brain (42)

Punjabi

 522

4

2(1)

30^b,<40,45,45

35,60

Uterus (41)

Punjabi

 611^a

4

2(1)

31^b,36,37,42

50,55

Blood (30)

Punjabi

 523^a

3(1)

4

39/46,40,53^b

30,45,51,60

-

Punjabi

 275^a

4(1)

1(1)

34/40^b,40,42,50

40

-

Punjabi

 469

5

1(1)

29^b,29,<35,>35,>55

32^b

-

Mohajir

 340^a

6

1

34^b,42,<50,<50,<50,<50

54

-

Balochi

 574^a

6

2

32,32,35,45^b,48,>50

48,55

-

Mohajir

 512^a

6(1)

1

<25,<30,<40,46/55^b,<50,>50

<50

Uterus (<50)

Kashmiri

 248^a

7

2(2)

23^b,<25,34,<40,<46,<60,?

23^b,<60

-

Punjabi

 220^a

8

1(1)

25,27^b,<30,53,58,63,77

<30

-

Punjabi

 229

1

-

28^b

-

-

Punjabi

 379

2

-

29,31^b

-

Liver (38)

Punjabi

 261

2

-

33,34^b

-

-

Punjabi

 406

2

-

39^b,40

-

Abdomen (65)

Punjabi

 498

2

-

40,41^b

-

-

Siriaki

 549

2

-

38,72^b

-

Unknown

Punjabi

 314

6

-

32^b,42,56,70,?,?

-

Uterus (54), pharynx (59), brain (63), abdomen

Punjabi

 291

3

1

39,42,48

48^b

Stomach, brain

Punjabi

 719

3(1)

1

>40,42^b,?

?

-

Punjabi

 330

1

-

29^b

-

Lung (48, 58, 66), tongue (55)

Punjabi

 206

1

-

30^b

-

-

Pathan

 540^d

1

-

67^b

-

-

Mohajir

 207^d

1

-

76^b

-

Intestine (60)

Punjabi

 295^a

1(1)

-

23/23^b

-

Leukemia (49), esophagus (50)

Punjabi

 N26

2

-

26^b,35

-

-

Pathan

 602

2

-

31^b,43

-

-

Punjabi

 492

2

-

38^b,39

-

-

Mohajir

 505

2

-

43,46^b

-

-

Pathan

 713

2

-

35,56^b

-

-

Kashmiri

 700

2(1)

-

35/43^b,46

-

Throat (72)

Punjabi

 627

2(1)

-

42^b,51/51

-

-

Pathan

 545

3

-

35,36^b,47

-

Brain (50), uterus (50), bone (54)

Punjabi

 497

3

-

51^b,55,50

-

Brain

Siriaki

 548^d

3

-

45,50,69^b

-

-

Pathan

 702

4

-

26,30^b,<33,70

-

Throat (72)

Punjabi

 579

4

-

35,49,<50,51^b

-

Oral (35), gall bladder (42)

Kashmiri

 407^d

4

-

31,45(male),45,54^b

-

Esophagus (39,59), leukemia (64)

Mohajir

 538

5

-

34^b,38,45,50,58

-

Retinoblastoma (3), pancreas (75), liver (83)

Pathan

 684

5

-

40^b,45,48,50,<57

-

Throat (<48, <82), stomach (53), intestine (60)

Pathan

 447

3(1)

2

31^b,<50,55/65

50,>50

Abdomen (>50), colon (62), brain (65)

Punjabi

 525

4(1)

1

32,33/35^b,<50,60

<45

Bladder (>60)

Mohajir

 222

7

2(1)

35,42,43,50,54^b,60,?

47,53^b

Lung (60), prostate (70), lung

Kashmiri