Table 1 Distribution of RET single mutations in MEN2 with ATA-classified, demographic characteristics and the presence of MTC, PHEO, PHPT, CLA and HD
ATA-2015 Risk category | RET mutation | Nucleotide change | Family (No, %) | No. available / Carriers | Sex (M/F) | MTC | PHEO | HPTH | CLA | HD | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
No. patient (%) | MAD (range, yrs) | No. patient (%) | MAD (range, yrs) | No. patient (%) | MAD (range, yrs) | No. patient (%) | MAD (range,yrs) | No. patient (%) | MAD (range, yrs) | ||||||
ATA-MOD | C609R | c.1825 T > C | 1 (1.5) | 1/1 | 0/1 | 1 (100) | 52 | – | – | – | – | – | – | – | – |
C611Y | c.1832G > A | 1 (1.5) | 17/17 | 8/9 | 15 (88.2) | 45.9 (23–74) | 2 (12.5) | 53 (37,69) | – | – | 1 (6.3) | 40 | – | – | |
C611F | c.1832-1833delGCinsTT | 1 (1.5) | 1/1 | 1/0 | 0 (0) | – | 1 | 32 | 1 | 32 | – | – | – | – | |
C618G | c.1852 T > G | 2 (3.1) | 4/4 | 2/2 | 4 (100) | 57.8 (37–83) | – | – | – | – | – | – | – | – | |
C618R | c.1852 T > C | 4 (6.2) | 25/25 | 6/19 | 24 (96) | 40.3 (21–60) | 2 (8) | 57.5 (46,69) | 1 | 60 | – | – | 1(4) | 6+/− | |
C618S | c.1852 T > A | 1 (1.5) | 12/12 | 3/9 | 11 (91.2) | 41.1 (24–59) | – | – | – | – | – | – | – | – | |
C618Y | c.1853G > A | 1 (1.5) | 9/9 | 3/6 | 8 (88.9) | 55.3 (35–78) | – | – | – | – | – | – | – | – | |
C620R | c.1858 T > C | 1 (1.5) | 1/1 | 1/0 | 1 (100) | 27 | – | – | – | – | – | – | – | – | |
C620S | c.1859G > C | 1 (1.5) | 1/1 | 1/0 | 1 (100) | 39 (39) | – | – | – | – | – | – | – | – | |
L790F | c.2370G > T | 8 (12.3) | 15/30a | 11/19 | 14 (93.3) | 46.1 (27–70) | – | – | – | – | – | – | – | – | |
V804M | c.2410G > A | 4 (6.2) | 4/4 | 4/0 | 4 (100) | 50.7 (40–69) | – | – | – | – | – | – | – | – | |
S891A | c.2671 T > G | 2 (3.1) | 6/6 | 4/2 | 3 (50) | 42 (25–62) | – | – | – | – | – | – | – | – | |
ATA-H | C634F | c.1901G > T | 2 (3.1) | 3/3 | 1/2 | 3 (100) | 31.7 (8–58) | 1 (33.3) | 26 (26) | – | – | – | – | – | – |
C634G | c.1900 T > G | 2 (3.1) | 7/7 | 3/4 | 7 (100) | 52.2 (43–66) | 3 (42.9) | 54.6 (45–66) | – | – | 3 (42.9) | 54 (53,54,55) | – | – | |
C634R | c.1900 T > C | 5 (7.7) | 15/15 | 6/9 | 15 (100) | 32.6 (18–65) | 6 (40) | 34 (21–47) | 1 | 40 | 1 (6.3) | 40 | – | – | |
C634S | c.1900 T > A | 1 (1.5) | 3/3 | 2/1 | 3 (100) | 61.3 (51–77) | – | – | – | – | – | – | – | – | |
C634W | c.1902C > G | 1 (1.5) | 1/1 | 0/1 | 1 (100) | 34 | 1 (100) | 34 | 1 (100) | 34 | 1 (100) | 34 | – | – | |
C634Y | c.1901G > A | 22 (33.8) | 69/69 | 37/32 | 69 (100) | 34.3 (5.5–80) | 32 (46.3) | 42 (18–75) | 7 (10) | 30 (15–55) | – | – | – | – | |
ATA-HST | M918T | c.2753 T > C | 5 (7.7) | 5/5 | 2/3 | 5 (100) | 25.4(8–34) | 2 (40) | 36 (22–50) | – | – | – | – | – | – |
Total | 19 |  | 65 (100) | 199/214 | 95/119 | 189 (95.0)b | 40.5(5.5–83)c | 50 (25.1) | 41.9 (18–75) | 11 (5.5) | 34.2 (15–60) | 6 (5.0) | 42 (34–55)d | 1 (0.5) | NA |