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Table 1 Summary of International Classification of Diseases, 9th Revision (ICD9), gender, age at diagnosis, clinical criteria and tumor molecular characteristics of the familial CRC families

From: Identification of genetic variants for clinical management of familial colorectal tumors

Patient_ID

Gender

ICD9 diagnosis (age)

AMS criteria

Revised Bethesda

Tumor molecular characteristics

3222

F

CC (54), Hyperplastic polyp (55/61/62/63/65), BC (70)

0

Y

MMR IHC proficient

3308

F

CC (43), BC (51/52)

0

Y

MMR IHC proficient

3387

F

BC (40), OC (70), CC (80)

0

Y

MMR IHC proficient

3426

M

MM (39)

I & II

Y

na

4932

F

CC (34), EC (40), Hyperplastic polyp (43), BT (46)

I & II

Y

na

5324

F

M (52), CC (59), SMC (na), BC (72)

0

Y

na

6174

F

Hyperplastic polyp (63/67), BC (65)

I & II

Y

MMR IHC proficient

6977

F

TC (66)

0

Y

MMR IHC proficient

9876

F

M (45), BC (54)

0

Y

na

9998

F

Hyperplastic polyp (45), CC (45)

II

Y

MMR IHC proficient

10,675

F

BC (51), Hyperplastic polyp (59), TC (60)

II

Y

na

12,954

F

Hyperplastic polyp (69), ML (70)

II

Y

na

13,072

M

Hyperplastic polyp (63/64/65), CC (65/67)

0

Y

na

14,930

F

Hyperplastic polyp (86), CC (86)

0

Y

MMR IHC proficient

18,843

F

BC (44), CC (49), SMC (na)

0

Y

na

19,411

M

PC (70)

0

Y

MSH6 IHC deficient

19,673

F

BC (40/42)

II

Y

na

20,612

F

Hyperplastic polyp (59/65), EC (70)

0

Y

na

21,368

F

OC (62)

0

Y

na

22,295

F

Hyperplastic polyp (53), M (58)

0

Y

na

23,761

F

Hyperplastic polyp (40/42/44), BC (50)

0

Y

na

23,910

F

M (43), Hyperplastic polyp (49), BC (63), BT (63)

0

Y

na

24,140

F

CC (45/67), BC (56)

0

Y

na

24,447

F

BC (57/66), CC (66)

0

Y

MLH1/PMS2 IHC deficient and MSI

11,705

F

THC (53), KC (53/63)

II

Y

MMR IHC proficient

12,673

F

OC (23), SMC (36), RC (62)

II

Y

na

13,393

M

RC (48), CST (58)

I & II

Y

MMR IHC proficient and MSS

14,963

F

Hyperplastic polyp (69), BC (62)

0

Y

na

19609a

F

CC (42), M (44), BC (57)

0

Y

MMR IHC proficient

22,953

F

BC (53)

II

Y

na

24,789

F

CC (43), RC (65), BC (72)

I & II

Y

MMR IHC proficient and MSS

25,167

M

CC (55)

I & II

Y

MMR IHC proficient

5597

M

Hyperplastic polyp (53/54), SC (55), KC (62)

0

Y

MMR IHC proficient

8913

F

Hyperplastic polyp (59), BC (61), TC (69)

0

Y

na

  1. CRC colorectal, ICD9 diagnosis International Classification of Diseases, 9th Revision, CC colon cancer, BC breast cancer, AMS Amsterdam criteria, 0 not fulfill the AMS criteria, Y yes, MMR mismatch repair, IHC immunohistochemistry, MSI microsatellite instabily, MSS microsatellite stable, na not available, OC ovary cancer, MM multiple myeloma, EC endometrial cancer, BT brain tumor, M melanoma, SMC other malignant of the skin, TC trachea, bronchus, lung cancer, ML malignant neoplasms of lymphoid, PC prostate cancer, THC thyroid cancer, KC kidney cancer, RC rectum cancer, CST malignant neoplasm of connective and soft tissue, SC stomach cancer
  2. a Patient carrying CHEK2 c.470 T > C, p.I157T