Table 1.
Geographic origin and demographics of 38 TP53 p.R337H carriers
| Country | Primary tumor (age/diagnosis)/Additional tumors | Status | Gendera | R337H | E134∗ | Haplotype |
|---|---|---|---|---|---|---|
| (1) Brazil | ACT (9) | Pediatric/Deceased | M | Pos (H) | Pos (H) | Hap1 |
| (2) Brazil | CPC (6) | Pediatric | M | Pos (H) | Pos (H) | Hap1 |
| (3) USA/Brazil | ACT (3) | Pediatric | M | Pos | Neg | Hap2 |
| (4) USA/Brazil | ACT (1) | Pediatric | F | Pos | Pos | Hap1 |
| (5) Brazil | ACT (3) | Pediatric | M | Pos | Pos | Hap1 |
| (6) Brazil | ACT (2) | Pediatric/Deceased | F | Pos | Pos | Hap1 |
| (7) Argentina | ACT (4) | Pediatric/Deceased | F | Pos | Pos | Hap1 |
| (8) Brazil | ACT (11) | Pediatric | F | Pos | Pos | Hap1 |
| (9) Argentina | ACT (9) | Pediatric | F | Pos | Neg | Hap3 |
| (10) Spain | ACT (3) | Pediatric | M | Pos | Pos | Hap1 |
| (11) Spain | ACT (2) | Pediatric | M | Pos | Pos | Hap1 |
| (12) Spain | Unaffected A&W (19) | Adult | M | Pos | Pos | Hap1 |
| (13) Portugal | ACT (4) | Pediatric | F | Pos | Neg | Hap2 |
| (14) Portugal/Brazil | ACT (4) | Pediatric | F | Pos | Pos | Hap1 |
| (15) Portugal | Liposarcoma (40) | Adult | F | Pos | Pos | Hap1 |
| (16) Portugal | Gastric (62) | Adult | M | Pos | Pos | Hap1 |
| (17) Portugal | Breast Her2+ (40) | Adult | F | Pos | Pos | Hap1 |
| (18) USA/Brazil | ACT (34) | Adult | M | Pos | Neg | Hap2 |
| (19) USA | Breast (41) | Adult | F | Pos | Neg | Hap4 |
| (20) USA | Breast (39), Thyroid (57), Leiomyosarcoma (62) | Adult | F | Pos | Neg | Hap4 |
| (21) USA | Thyroid (27), Breast (36), Lung (59), Melanoma (60) | Adult/Deceased | F | Pos | Neg | Hap4 |
| (22) USA | Unclassified spindle cell sarcoma (27), Breast (29), Sarcoma (33) | Adult | F | Pos | Neg | Hap4 |
| (23) USA | Basal cell carcinoma (53) | Adult | F | Pos | Neg | Hap3 |
| (24) USA | Unaffected A&W (39) | Adult | M | Pos | Neg | Hap3 |
| (25) USA | Breast (38) | Adult | F | Pos | Pos | Hap1 |
| (26) USA | Breast (45), Thyroid (55) | Adult | F | Pos | Neg | Hap4 |
| (27) USA | Breast (46), Breast (49), Head and neck (59), STS (61) | Adult | F | Pos | Neg | Hap4 |
| (28) USA/Brazil | Breast (45), Low grade mucinous appendiceal carcinoma (47) | Adult | F | Pos | Neg | Hap2 |
| (29) France | Breast (64), Endometrial (77) | Adult | F | Pos | Neg | Hap3 |
| (30) Germany | Colon (65), ACT (71), Prostate (74) | Adult/Deceased | M | Pos | Neg | Hap3 |
| (31) England | Unaffected A&W (45) | Adult | F | Pos | Neg | Hap3 |
| (32) Japan/Brazil | ACT (2) | Pediatric | M | Pos | Pos | Hap1 |
| (33) Samoa | ACT (9) | Pediatric | F | Pos (de novo) | Neg | Hap5 |
| (34) Germany | Tubal carcinoma (54), Peritoneal carcinomatosis (58) | Adult | F | Pos | Neg | Hap3 |
| (35) Germany | Unaffected A&W (29) | Adult | F | Pos | Neg | Hap3 |
| (36) Germany | Unaffected A&W (30) | Adult | M | Pos | Neg | Hap3 |
| (37) Germany | Gastric (62) | Adult | F | Pos | Neg | Hap3 |
| (38) South Africa | ACT (5) | Pediatric | F | Pos | Neg | ND |
#15, 16, 17, 19, 20, 21, 25, 26, 28 and 29 are BRCA1/2 negative by genetic panel testing.
#22 is positive for BRCA1 c.4065_4068del(TCAA) inherited from father.
A&W, alive and well (no current cancer); ACT, adrenocortical tumor; CPC, choroid plexus carcinoma; F, female; H, homozygous; M, male; ND, not determined; STS, soft tissue sarcoma.
a
Gender defined by biological attributes.