The demographic features, family history, and overall survival of 205 individuals with DDX41 variants
Patient . | Diagnosis . | Age . | Sex . | Ethnicity . | gl DDX41 . | FU (d) . | Survival (Y/N) . | FH_MN . | FH_LN . | FH_Other . |
---|---|---|---|---|---|---|---|---|---|---|
1* | AML | 62 | M | NI | p.M1I | NI | NI | NI | NI | NI |
2† | AML | 78 | F | Caucasian | p.M1I | 365 | Y | No | No | No |
3 | AML | 77 | M | Caucasian | p.M1I | 122 | Y | NI | NI | NI |
4† | AML | 64 | M | Caucasian | p.M1I | 519 | Y | No | No | Breast cancer (mother) |
5 | AML | 80 | M | Caucasian | p.M1I | 336 | Y | NI | NI | NI |
6*,† | AML | 77 | M | Caucasian | p.M1I | 2161 | Y | No | No | No |
7 | AML | 62 | M | Caucasian | p.M1I | 151 | Y | Leukemia (father) | No | No |
8 | AML | 76 | M | Caucasian | p.M1I | 1214 | Y | No | No | No |
9† | AML | 68 | M | Caucasian | p.M1I | 822 | Y | No | No | No |
10*,† | AML | 76 | F | Caucasian | p.M1I | 2161 | Y | No | No | Breast cancer (mother and sister); |
pituitary tumor (brother); rhabdomyosarcoma (son) | ||||||||||
11 | AML | 88 | F | Caucasian | p.M1I | 98 | Y | No | No | No |
12† | AML | 48 | F | Caucasian | p.M1I | 700 | Y | No | No | No |
13 | AML | 63 | F | Caucasian | p.M1I | NI | NI | NI | NI | NI |
14† | AML | 78 | M | Caucasian | p.M1I | 1034 | Y | No | No | No |
15† | AML | 65 | M | Caucasian | p.M1I | NI | NI | NI | NI | NI |
16† | AML | 73 | M | Caucasian | p.M1I | 91 | Y | No | No | Cancer of unknown origin (mother) |
17† | AML | 72 | M | Caucasian | p.M1I | 822 | N | No | No | No |
18† | AML | 74 | M | Caucasian | p.M1I | 396 | Y | No | No | Cancer of unknown origin (brother) |
19* | AML | 75 | M | Caucasian | p.M1I | 608 | Y | NI | NI | NI |
20*# | AML | 60 | M | Caucasian | p.M1I | 639 | Y | No | No | No |
21# | AML | 65 | M | Caucasian | p.M1I | 365 | Y | No | No | Cancer of unknown origin (sister) |
22# | AML | 64 | M | Caucasian | p.M1I | 304 | Y | No | No | Lung cancer (father); cervical cancer (daughter) |
23 | AML | 68 | M | Caucasian | p.M1I | 400 | Y | No | No | Lung cancer (mother) |
24† | AML | 69 | M | Caucasian | p.M1I | 1216 | Y | NI | NI | NI |
25 | AML | 71 | F | Caucasian | p.K108fs | NI | NI | NI | NI | NI |
26 | AML | 71 | F | Caucasian | p.D140fs | NI | NI | NI | NI | NI |
27 | AML | 57 | M | Caucasian | p.D140fs | 561 | Y | NI | NI | NI |
28† | AML | 57 | M | Caucasian | p.D140fs | 403 | N | No | No | No |
29 | AML | 57 | M | Caucasian | p.D140fs | 1080 | Y | No | Lymphoma (father) | Prostatic cancer (paternal uncle) |
30*,† | AML | 59 | M | Caucasian | p.D140fs | 639 | Y | No | No | Pancreatic cancer (brother) |
31 | AML | 78 | M | Caucasian | p.D140fs | NI | NI | NI | NI | NI |
32 | AML | 81 | M | Caucasian | p.D140fs | 260 | Y | NI | NI | NI |
33 | AML | 63 | M | Caucasian | p.D140fs | 61 | Y | NI | NI | NI |
34† | AML | 90 | F | Caucasian | p.D140fs | 176 | N | No | No | No |
35 | AML | 66 | M | Caucasian | p.D140fs | 913 | Y | MDS (father and paternal uncle) | No | No |
36 | AML | 67 | M | NI | p.D140fs | 580 | Y | NI | NI | NI |
37 | AML | 50 | M | Caucasian | p.D140fs | 245 | Y | NI | NI | NI |
38† | AML | 70 | F | AA | p.D140fs | 183 | Y | No | No | Brain cancer (sister) |
39† | AML | 53 | M | Caucasian | p.D140fs | 945 | Y | No | No | Lung cancer (mother); colon cancer (father) |
40† | AML | 70 | M | Caucasian | p.D140fs | 488 | Y | No | No | Cancer of mouth and throat (brother) |
41 | AML | 57 | M | NI | p.D140fs | 675 | Y | NI | NI | NI |
42 | AML | 54 | F | Caucasian | p.D140fs | 300 | Y | No | No | No |
43 | AML | 61 | M | Caucasian | p.D140fs | 145 | Y | No | MM (father) | No |
44 | AML | 73 | M | Asian | p.I224fs | 731 | Y | NI | NI | NI |
45† | AML | 54 | F | Caucasian | p.L283fs | 580 | Y | No | No | No |
46 | AML | 58 | F | Caucasian | p.M316fs | 1071 | Y | No | No | No |
47 | AML | 76 | F | NI | p.G465fs | 640 | Y | NI | NI | NI |
48 | AML | 63 | M | Caucasian | p.Q41* | 212 | Y | No | No | No |
49 | AML | 70 | M | Caucasian | p.Q41* | NI | NI | NI | NI | NI |
50 | AML | 71 | M | Caucasian | p.R159* | 31 | Y | NI | NI | No |
51 | AML | 61 | M | Caucasian | p.R311* | NI | NI | NI | NI | NI |
52 | AML | 68 | M | Caucasian | p.R369* | 548 | N | No | No | No |
53 | AML | 78 | M | NI | p.R369* | 120 | Y | NI | NI | NI |
54 | AML | 70 | M | Caucasian | p.Q370* | 408 | Y | Leukemia (mother) | No | No |
55 | AML | 82 | M | Caucasian | p.Q502* | NI | NI | NI | NI | NI |
56† | AML | 68 | F | Caucasian | p.? | 905 | Y | Leukemia (maternal aunt) | No | No |
57 | AML | 74 | M | Caucasian | p.K331del | 232 | N | No | No | Thyroid and colon cancer (mother) |
58† | AML | 65 | F | Caucasian | p.L216V | 275 | Y | MDS (brother) | No | No |
59 | AML | 66 | M | Caucasian | p.G218D | 31 | Y | NI | NI | NI |
60 | AML; breast cancer | 47 | F | Caucasian | p.P258L | 653 | Y | No | No | No |
61 | AML | 60 | M | NI | p.R323C | 956 | Y | NI | NI | NI |
62 | AML | 69 | M | Caucasian | p.M349K | 365 | Y | NI | NI | NI |
63 | AML | 69 | M | Caucasian | p.M349K | 1134 | Y | No | No | Prostatic cancer (father) |
64 | AML | 81 | F | Caucasian | p.R369G | 151 | Y | AML (paternal cousin) | No | No |
65 | AML | 85 | M | Asian | p.D467Y | 458 | Y | NI | NI | NI |
66 | AML | 61 | M | Asian | p.R525H | 243 | N | MDS (father); Leukemia (paternal grandma) | No | No |
Hematologic cancer (paternal uncle) | ||||||||||
67 | MDS | 72 | M | Caucasian | p.M1I | NI | NI | NI | NI | NI |
68 | MDS | 73 | M | Caucasian | p.M1I | 539 | Y | No | No | No |
69 | MDS | 81 | F | Caucasian | p.M1I | 670 | Y | No | No | No |
70 | MDS | 76 | M | Caucasian | p.M1I | 362 | Y | No | No | No |
71 | MDS | 79 | M | Caucasian | p.M1I | 763 | Y | No | No | Prostatic cancer (brother) |
72 | MDS | 61 | F | Caucasian | p.M1I | 192 | Y | No | No | Breast cancer (sister) |
73 | MDS | 60 | M | Caucasian | p.M1I | 1795 | Y | No | No | Throat cancer (father); melanoma (sister) |
74 | MDS | 65 | M | Caucasian | p.M1I | 153 | Y | NI | NI | No |
75 | MDS | 63 | M | NI | p.M1I | NI | NI | NI | NI | NI |
76 | MDS; MM; MBL | 67 | F | Caucasian | p.M1I | 98 | Y | No | No | No |
77 | MDS | 69 | M | Caucasian | p.M1I | 92 | Y | No | No | No |
78 | MDS | 72 | M | Caucasian | p.M1I | 2722 | Y | No | No | No |
79 | MDS | 60 | M | Caucasian | p.M1I | 395 | Y | NI | NI | No |
80 | MDS | 88 | F | Caucasian | p.D140fs | 476 | Y | NI | NI | NI |
81 | MDS | 69 | M | Caucasian | p.D140fs | 1078 | Y | NI | NI | NI |
82 | MDS | 63 | M | Asian | p.A500fs | 761 | Y | NI | NI | No |
83 | MDS | 76 | F | Asian | p.Q44* | 701 | Y | No | No | No |
84 | MDS | 77 | M | Caucasian | p.R159* | 876 | N | NI | NI | NI |
85 | MDS | 85 | F | Caucasian | p.R311* | NI | NI | NI | NI | NI |
86 | MDS | 84 | M | Caucasian | p.R311* | NI | NI | NI | NI | NI |
87 | MDS | 77 | M | Caucasian | p.K331del | 1793 | Y | Leukemia (father) | No | No |
88 | MDS | 62 | M | Caucasian | p.K331del | 900 | Y | No | No | Prostatic cancer, melanoma and stomach cancer (paternal uncles); |
Pancreatic cancer (maternal aunt); lung cancer (maternal cousins); | ||||||||||
Bile duct cancer (maternal cousin); breast cancer (maternal great aunt) | ||||||||||
89 | MDS | 84 | F | Caucasian | p.P189L | 2015 | Y | No | No | No |
90 | MDS | 73 | M | Caucasian | p.L237W | 134 | Y | MDS (father) | No | No |
91 | MDS | 74 | M | Caucasian | p.R339H | 2023 | Y | No | No | No |
92 | MDS | 76 | M | Caucasian | p.R339C | 305 | Y | NI | NI | NI |
93 | MDS | 63 | M | Caucasian | p.Y340N | 90 | Y | NI | NI | NI |
94* | MDS | 76 | M | Caucasian | p.R369G | 864 | Y | NI | NI | NI |
95 | Pancytopenia | 85 | M | NI | p.M1I | NI | NI | NI | NI | NI |
96 | Pancytopenia | 56 | M | NI | p.M1I | NI | NI | NI | NI | NI |
97 | Pancytopenia | 82 | M | Caucasian | p.D140fs | NI | NI | NI | NI | NI |
98 | Pancytopenia | 80 | M | Caucasian | p.T144fs | NI | NI | NI | NI | NI |
99 | Pancytopenia | 79 | M | NI | p.M316fs | NI | NI | NI | NI | NI |
100 | Pancytopenia | 83 | M | Caucasian | p.L452fs | NI | NI | NI | NI | NI |
101 | Pancytopenia | 65 | M | Caucasian | p.R159* | 61 | Y | NI | NI | NI |
102 | Pancytopenia | 56 | M | NI | p.S543* | NI | NI | NI | NI | NI |
103 | Pancytopenia | 55 | M | NI | p.S217P | NI | NI | NI | NI | NI |
104 | Pancytopenia | 67 | M | NI | p.P258L | NI | NI | NI | NI | NI |
105 | Pancytopenia | 77 | M | Asian | p.Y259C | NI | NI | NI | NI | NI |
106 | Pancytopenia | 58 | M | Asian | p.R339L | NI | NI | NI | NI | NI |
107 | Thrombocytopenia | 81 | M | NI | p.D140fs | NI | NI | NI | NI | NI |
108 | Thrombocytopenia | 37 | F | Caucasian | p.T529fs | 423 | Y | AML (father) | No | No |
109 | Thrombocytopenia | 68 | M | Caucasian | p.M1I | NI | NI | NI | NI | NI |
110 | Neutropenia | 64 | M | NI | p.M1I | NI | NI | NI | NI | NI |
111 | Neutropenia | 78 | F | Caucasian | p.M1I | NI | NI | NI | NI | NI |
112 | Anemia | 70 | F | NI | p.R369* | NI | NI | NI | NI | NI |
113 | MPN | 40 | F | Caucasian | p.D140fs | 278 | Y | Leukemia (family members, not specified) | No | Breast and uterine cancers (mother) |
114 | MPN | 76 | F | Caucasian | p.M316fs | NI | NI | NI | NI | NI |
115 | MPN, ET | 41 | F | NI | p.Q306* | NI | NI | NI | NI | NI |
116 | MPN | 85 | M | NI | p.K381* | NI | NI | NI | NI | NI |
117 | AML | 48 | F | Caucasian | p.E2D | 96 | NI | NI | NI | NI |
118* | AML | 54 | F | NI | p.G19R | 61 | Y | NI | NI | NI |
119* | AML | 62 | F | NI | p.Y33H | 516 | Y | NI | NI | NI |
120 | AML | 76 | M | Caucasian | p.M155I | NI | NI | NI | NI | NI |
121 | AML | 56 | F | NI | p.M155I | 613 | N | No | No | No |
122* | AML | 63 | F | Caucasian | p.R164N | 365 | Y | No | No | No |
123 | AML | 84 | M | Caucasian | p.P510S | 216 | Y | NI | NI | NI |
124 | AML | 81 | M | Caucasian | p.M127K | 15 | N | No | No | No |
125 | AML | 47 | F | Caucasian | p.M155I | NI | NI | NI | NI | NI |
126 | AML | 72 | M | Caucasian | p.G67R | 180 | Y | No | No | No |
127 | AML | 72 | M | Caucasian | p.G67R | 150 | Y | No | No | No |
128* | AML | 46 | M | Caucasian | p.M155I | 146 | Y | No | No | Cancer of unknown origin (mother) |
129 | AML | 79 | M | Caucasian | p.A295T | 241 | Y | No | No | Cancer of unknown origin (mother and father) |
130 | AML | 55 | M | NI | p.I298T | NI | NI | NI | NI | NI |
131 | AML | 47 | F | Caucasian | p.E355K | 19 | N | No | No | No |
132 | AML | 67 | M | Caucasian | p.M155I | 1056 | Y | No | No | No |
133 | AML | 7 | F | NI | p.M155I | NI | NI | NI | NI | NI |
134 | AML | 64 | M | NI | p.? | 28 | Y | NI | NI | NI |
135 | MDS | 79 | F | Caucasian | p.G123S | NI | NI | NI | NI | NI |
136 | MDS | 63 | M | NI | p.M155I | NI | NI | NI | NI | NI |
137 | MDS | 73 | M | Caucasian | p.? | 420 | N | NI | NI | NI |
138 | MDS | 50 | M | Caucasian | p.G175S | NI | NI | NI | NI | NI |
139 | MDS | 84 | M | Caucasian | p.P177S | NI | NI | NI | NI | NI |
140 | MDS | 60 | M | Caucasian | p.P434L | 303 | Y | NI | NI | NI |
141 | MDS | 83 | F | Caucasian | p.P510S | NI | NI | NI | NI | NI |
142 | MDS | 78 | M | Caucasian | p.C568W | 516 | N | No | No | No |
143 | MDS/MPN | 56 | M | Caucasian | p.G587A | 183 | Y | NI | NI | No |
144 | MDS | 92 | M | Caucasian | p.E426K | NI | NI | NI | NI | NI |
145 | MDS | 65 | F | NI | p.P510S | 456 | Y | NI | NI | NI |
146 | MDS | 62 | M | Caucasian | p.A555T | 255 | Y | NI | NI | NI |
147 | Pancytopenia | 63 | M | NI | p.K9K | NI | NI | NI | NI | NI |
148 | Pancytopenia | 81 | M | Caucasian | p.M155I | NI | NI | NI | NI | NI |
149 | Pancytopenia; SCC | 77 | M | NI | p.M186L | NI | NI | NI | NI | NI |
150 | Pancytopenia | 85 | M | NI | p.R219H | NI | NI | NI | NI | NI |
151 | Pancytopenia | 84 | F | NI | p.R282H | NI | NI | NI | NI | NI |
152 | Pancytopenia | 85 | F | NI | p.C294F | 550 | Y | NI | NI | NI |
153 | Pancytopenia | 70 | M | NI | p.S493A | NI | NI | NI | NI | NI |
154 | Thrombocytopenia | 88 | M | Caucasian | p.M155I | 37 | Y | No | No | No |
155 | Thrombocytopenia | 78 | F | NI | p.T236M | NI | NI | NI | NI | NI |
156 | Thrombocytopenia | 39 | M | Caucasian | p.? | NI | NI | NI | NI | NI |
157 | Thrombocytopenia | 73 | M | Caucasian | p.? | 31 | Y | NI | NI | NI |
158 | Neutropenia | 43 | F | Caucasian | p.? | NI | NI | NI | NI | NI |
159 | Anemia | 69 | F | Caucasian | p.P251S | 1777 | Y | No | No | No |
160 | Anemia | 78 | M | Caucasian | p.A583V | NI | NI | NI | NI | NI |
161 | MPN, PV | 53 | F | Caucasian | p.R8Q | 87 | Y | No | No | Cancer of unknown origin (brother) |
162 | MPN, PV | 61 | M | Caucasian | p.D32N | 395 | Y | NI | NI | NI |
163 | MPN, ET | 72 | M | NI | p.A133V | NI | NI | NI | NI | NI |
164 | MPN | 49 | F | NI | p.I215T | 943 | Y | NI | NI | NI |
165 | MPN | 85 | F | NI | p.L216P | NI | NI | NI | NI | NI |
166 | MPN, ET | 69 | M | Caucasian | p.T236M | 918 | Y | No | No | No |
167 | MPN | 66 | M | Caucasian | p.V491I | 3839 | Y | No | No | No |
168 | MPN, ET | 54 | M | Caucasian | p.V544L | 664 | Y | NI | NI | NI |
169 | MPN, ET | 39 | F | NI | p.? | NI | NI | NI | NI | NI |
170 | MPN, ET | 7 | F | Asian | p.M155T | NI | NI | NI | NI | NI |
171 | MPN | 46 | F | Caucasian | p.K187R | NI | NI | NI | NI | NI |
172 | Pancytopenia; LPL | 77 | M | AA | p.R164W | 10 | Y | No | No | No |
173 | Y heavy chain disease; | 52 | M | NI | p.R164W | 7955 | Y | Myelofibrosis (mother) | No | Lung cancer (father) |
MYD88 negative LPL | ||||||||||
174 | CLL; breast cancer | 51 | F | NI | p.R164W | 1186 | Y | No | FL (mother) | Bladder & prostatic cancer (father) |
175 | CLL | 70 | M | Caucasian | p.P251S | 1004 | Y | No | No | No |
176 | MM | 82 | F | Caucasian | p.R10Q | 471 | N | No | No | No |
177 | AML | 64 | M | Asian | 1703 | Y | Leukemia (maternal uncle) | Gastric cancer (paternal grandfather) | ||
178 | AML | 74 | M | Caucasian | 578 | Y | No | No | Sarcoma (father) | |
179 | AML | 69 | F | Caucasian | 974 | Y | NI | NI | No | |
180 | AML | 54 | M | Caucasian | 42282 | N | No | No | Colon cancer (father) | |
181 | AML | 70 | F | Caucasian | 455 | Y | No | No | Breast cancer (paternal aunt) | |
182 | AML | 77 | M | Caucasian | NI | NI | NI | NI | NI | |
183 | AML | 70 | M | Caucasian | 81 | Y | No | No | No | |
184 | AML; DLBCL | 74 | M | Caucasian | NI | Y | No | No | Breast cancer (sisters × 2) | |
185 | MDS | 75 | M | Caucasian | 1127 | Y | No | No | No | |
186 | MDS | 71 | M | Caucasian | 2053 | Y | No | No | Cancer of unknown origin (mother and sister) | |
187 | MDS | 65 | F | Caucasian | 2466 | Y | No | No | Lung cancer (father); breast cancer (father's sister) | |
188 | MDS | 54 | M | Caucasian | 151 | Y | No | No | No | |
189 | MDS | 69 | M | Caucasian | 689 | N | No | No | Prostatic cancer (father) | |
190 | AML | 30 | M | NI | 304 | Y | NI | NI | NI | |
191 | AML | 63 | M | Caucasian | 21 | N | No | No | No | |
192 | MDS | 81 | M | Caucasian | NI | NI | NI | NI | NI | |
193 | MDS | 62 | M | Caucasian | 212 | Y | No | No | Yes | |
194 | MDS | 80 | F | Caucasian | NI | NI | NI | NI | NI | |
195 | Neutropenia | 86 | M | Caucasian | NI | NI | NI | NI | NI | |
196* | Normal | 43 | M | Caucasian | p.M1I | 65 | Y | MDS (father) | No | No |
197* | Normal | 69 | F | Caucasian | p.M1I | 496 | Y | Myeloid neoplasm (mother) | No | No |
198* | Normal | 28 | M | Caucasian | p.D140fs | 1044 | Y | AML (father) | No | No |
199* | Normal | 59 | F | Caucasian | p.D140fs | NI | Y | Leukemia (father) | NI | NI |
200* | Normal | 66 | M | Caucasian | p.D140fs | NI | Y | MDS (brother); AML (brothers); ALL (daughter) | No | Lung cancer (father) |
201* | Normal | 33 | Caucasian | p.K331del | 614 | Y | MDS (father) | No | Prostatic cancer (paternal uncle); pancreatic cancer (maternal aunt); lung cancer (maternal cousins); bile duct cancer (maternal cousin); melanoma and stomach cancer (paternal uncle); breast cancer (maternal great aunt) | |
202 | Normal∼(donor) | 71 | F | Caucasian | p.311* | 367/PHSCT | Y | No | No | |
203 | Normal∼(donor) | 59 | M | Caucasian | p.M155I | 2061/PHSCT | Y | No | No | No |
204 | Normal∼(donor) | 60 | M | Caucasian | p.V565M | 725/PHSCT | Y | NI | NI | NI |
205 | Normal∼(donor) | 71 | M | Caucasian | p.T529fs | 459/PHSCT | Y | No | No | No |
Patient . | Diagnosis . | Age . | Sex . | Ethnicity . | gl DDX41 . | FU (d) . | Survival (Y/N) . | FH_MN . | FH_LN . | FH_Other . |
---|---|---|---|---|---|---|---|---|---|---|
1* | AML | 62 | M | NI | p.M1I | NI | NI | NI | NI | NI |
2† | AML | 78 | F | Caucasian | p.M1I | 365 | Y | No | No | No |
3 | AML | 77 | M | Caucasian | p.M1I | 122 | Y | NI | NI | NI |
4† | AML | 64 | M | Caucasian | p.M1I | 519 | Y | No | No | Breast cancer (mother) |
5 | AML | 80 | M | Caucasian | p.M1I | 336 | Y | NI | NI | NI |
6*,† | AML | 77 | M | Caucasian | p.M1I | 2161 | Y | No | No | No |
7 | AML | 62 | M | Caucasian | p.M1I | 151 | Y | Leukemia (father) | No | No |
8 | AML | 76 | M | Caucasian | p.M1I | 1214 | Y | No | No | No |
9† | AML | 68 | M | Caucasian | p.M1I | 822 | Y | No | No | No |
10*,† | AML | 76 | F | Caucasian | p.M1I | 2161 | Y | No | No | Breast cancer (mother and sister); |
pituitary tumor (brother); rhabdomyosarcoma (son) | ||||||||||
11 | AML | 88 | F | Caucasian | p.M1I | 98 | Y | No | No | No |
12† | AML | 48 | F | Caucasian | p.M1I | 700 | Y | No | No | No |
13 | AML | 63 | F | Caucasian | p.M1I | NI | NI | NI | NI | NI |
14† | AML | 78 | M | Caucasian | p.M1I | 1034 | Y | No | No | No |
15† | AML | 65 | M | Caucasian | p.M1I | NI | NI | NI | NI | NI |
16† | AML | 73 | M | Caucasian | p.M1I | 91 | Y | No | No | Cancer of unknown origin (mother) |
17† | AML | 72 | M | Caucasian | p.M1I | 822 | N | No | No | No |
18† | AML | 74 | M | Caucasian | p.M1I | 396 | Y | No | No | Cancer of unknown origin (brother) |
19* | AML | 75 | M | Caucasian | p.M1I | 608 | Y | NI | NI | NI |
20*# | AML | 60 | M | Caucasian | p.M1I | 639 | Y | No | No | No |
21# | AML | 65 | M | Caucasian | p.M1I | 365 | Y | No | No | Cancer of unknown origin (sister) |
22# | AML | 64 | M | Caucasian | p.M1I | 304 | Y | No | No | Lung cancer (father); cervical cancer (daughter) |
23 | AML | 68 | M | Caucasian | p.M1I | 400 | Y | No | No | Lung cancer (mother) |
24† | AML | 69 | M | Caucasian | p.M1I | 1216 | Y | NI | NI | NI |
25 | AML | 71 | F | Caucasian | p.K108fs | NI | NI | NI | NI | NI |
26 | AML | 71 | F | Caucasian | p.D140fs | NI | NI | NI | NI | NI |
27 | AML | 57 | M | Caucasian | p.D140fs | 561 | Y | NI | NI | NI |
28† | AML | 57 | M | Caucasian | p.D140fs | 403 | N | No | No | No |
29 | AML | 57 | M | Caucasian | p.D140fs | 1080 | Y | No | Lymphoma (father) | Prostatic cancer (paternal uncle) |
30*,† | AML | 59 | M | Caucasian | p.D140fs | 639 | Y | No | No | Pancreatic cancer (brother) |
31 | AML | 78 | M | Caucasian | p.D140fs | NI | NI | NI | NI | NI |
32 | AML | 81 | M | Caucasian | p.D140fs | 260 | Y | NI | NI | NI |
33 | AML | 63 | M | Caucasian | p.D140fs | 61 | Y | NI | NI | NI |
34† | AML | 90 | F | Caucasian | p.D140fs | 176 | N | No | No | No |
35 | AML | 66 | M | Caucasian | p.D140fs | 913 | Y | MDS (father and paternal uncle) | No | No |
36 | AML | 67 | M | NI | p.D140fs | 580 | Y | NI | NI | NI |
37 | AML | 50 | M | Caucasian | p.D140fs | 245 | Y | NI | NI | NI |
38† | AML | 70 | F | AA | p.D140fs | 183 | Y | No | No | Brain cancer (sister) |
39† | AML | 53 | M | Caucasian | p.D140fs | 945 | Y | No | No | Lung cancer (mother); colon cancer (father) |
40† | AML | 70 | M | Caucasian | p.D140fs | 488 | Y | No | No | Cancer of mouth and throat (brother) |
41 | AML | 57 | M | NI | p.D140fs | 675 | Y | NI | NI | NI |
42 | AML | 54 | F | Caucasian | p.D140fs | 300 | Y | No | No | No |
43 | AML | 61 | M | Caucasian | p.D140fs | 145 | Y | No | MM (father) | No |
44 | AML | 73 | M | Asian | p.I224fs | 731 | Y | NI | NI | NI |
45† | AML | 54 | F | Caucasian | p.L283fs | 580 | Y | No | No | No |
46 | AML | 58 | F | Caucasian | p.M316fs | 1071 | Y | No | No | No |
47 | AML | 76 | F | NI | p.G465fs | 640 | Y | NI | NI | NI |
48 | AML | 63 | M | Caucasian | p.Q41* | 212 | Y | No | No | No |
49 | AML | 70 | M | Caucasian | p.Q41* | NI | NI | NI | NI | NI |
50 | AML | 71 | M | Caucasian | p.R159* | 31 | Y | NI | NI | No |
51 | AML | 61 | M | Caucasian | p.R311* | NI | NI | NI | NI | NI |
52 | AML | 68 | M | Caucasian | p.R369* | 548 | N | No | No | No |
53 | AML | 78 | M | NI | p.R369* | 120 | Y | NI | NI | NI |
54 | AML | 70 | M | Caucasian | p.Q370* | 408 | Y | Leukemia (mother) | No | No |
55 | AML | 82 | M | Caucasian | p.Q502* | NI | NI | NI | NI | NI |
56† | AML | 68 | F | Caucasian | p.? | 905 | Y | Leukemia (maternal aunt) | No | No |
57 | AML | 74 | M | Caucasian | p.K331del | 232 | N | No | No | Thyroid and colon cancer (mother) |
58† | AML | 65 | F | Caucasian | p.L216V | 275 | Y | MDS (brother) | No | No |
59 | AML | 66 | M | Caucasian | p.G218D | 31 | Y | NI | NI | NI |
60 | AML; breast cancer | 47 | F | Caucasian | p.P258L | 653 | Y | No | No | No |
61 | AML | 60 | M | NI | p.R323C | 956 | Y | NI | NI | NI |
62 | AML | 69 | M | Caucasian | p.M349K | 365 | Y | NI | NI | NI |
63 | AML | 69 | M | Caucasian | p.M349K | 1134 | Y | No | No | Prostatic cancer (father) |
64 | AML | 81 | F | Caucasian | p.R369G | 151 | Y | AML (paternal cousin) | No | No |
65 | AML | 85 | M | Asian | p.D467Y | 458 | Y | NI | NI | NI |
66 | AML | 61 | M | Asian | p.R525H | 243 | N | MDS (father); Leukemia (paternal grandma) | No | No |
Hematologic cancer (paternal uncle) | ||||||||||
67 | MDS | 72 | M | Caucasian | p.M1I | NI | NI | NI | NI | NI |
68 | MDS | 73 | M | Caucasian | p.M1I | 539 | Y | No | No | No |
69 | MDS | 81 | F | Caucasian | p.M1I | 670 | Y | No | No | No |
70 | MDS | 76 | M | Caucasian | p.M1I | 362 | Y | No | No | No |
71 | MDS | 79 | M | Caucasian | p.M1I | 763 | Y | No | No | Prostatic cancer (brother) |
72 | MDS | 61 | F | Caucasian | p.M1I | 192 | Y | No | No | Breast cancer (sister) |
73 | MDS | 60 | M | Caucasian | p.M1I | 1795 | Y | No | No | Throat cancer (father); melanoma (sister) |
74 | MDS | 65 | M | Caucasian | p.M1I | 153 | Y | NI | NI | No |
75 | MDS | 63 | M | NI | p.M1I | NI | NI | NI | NI | NI |
76 | MDS; MM; MBL | 67 | F | Caucasian | p.M1I | 98 | Y | No | No | No |
77 | MDS | 69 | M | Caucasian | p.M1I | 92 | Y | No | No | No |
78 | MDS | 72 | M | Caucasian | p.M1I | 2722 | Y | No | No | No |
79 | MDS | 60 | M | Caucasian | p.M1I | 395 | Y | NI | NI | No |
80 | MDS | 88 | F | Caucasian | p.D140fs | 476 | Y | NI | NI | NI |
81 | MDS | 69 | M | Caucasian | p.D140fs | 1078 | Y | NI | NI | NI |
82 | MDS | 63 | M | Asian | p.A500fs | 761 | Y | NI | NI | No |
83 | MDS | 76 | F | Asian | p.Q44* | 701 | Y | No | No | No |
84 | MDS | 77 | M | Caucasian | p.R159* | 876 | N | NI | NI | NI |
85 | MDS | 85 | F | Caucasian | p.R311* | NI | NI | NI | NI | NI |
86 | MDS | 84 | M | Caucasian | p.R311* | NI | NI | NI | NI | NI |
87 | MDS | 77 | M | Caucasian | p.K331del | 1793 | Y | Leukemia (father) | No | No |
88 | MDS | 62 | M | Caucasian | p.K331del | 900 | Y | No | No | Prostatic cancer, melanoma and stomach cancer (paternal uncles); |
Pancreatic cancer (maternal aunt); lung cancer (maternal cousins); | ||||||||||
Bile duct cancer (maternal cousin); breast cancer (maternal great aunt) | ||||||||||
89 | MDS | 84 | F | Caucasian | p.P189L | 2015 | Y | No | No | No |
90 | MDS | 73 | M | Caucasian | p.L237W | 134 | Y | MDS (father) | No | No |
91 | MDS | 74 | M | Caucasian | p.R339H | 2023 | Y | No | No | No |
92 | MDS | 76 | M | Caucasian | p.R339C | 305 | Y | NI | NI | NI |
93 | MDS | 63 | M | Caucasian | p.Y340N | 90 | Y | NI | NI | NI |
94* | MDS | 76 | M | Caucasian | p.R369G | 864 | Y | NI | NI | NI |
95 | Pancytopenia | 85 | M | NI | p.M1I | NI | NI | NI | NI | NI |
96 | Pancytopenia | 56 | M | NI | p.M1I | NI | NI | NI | NI | NI |
97 | Pancytopenia | 82 | M | Caucasian | p.D140fs | NI | NI | NI | NI | NI |
98 | Pancytopenia | 80 | M | Caucasian | p.T144fs | NI | NI | NI | NI | NI |
99 | Pancytopenia | 79 | M | NI | p.M316fs | NI | NI | NI | NI | NI |
100 | Pancytopenia | 83 | M | Caucasian | p.L452fs | NI | NI | NI | NI | NI |
101 | Pancytopenia | 65 | M | Caucasian | p.R159* | 61 | Y | NI | NI | NI |
102 | Pancytopenia | 56 | M | NI | p.S543* | NI | NI | NI | NI | NI |
103 | Pancytopenia | 55 | M | NI | p.S217P | NI | NI | NI | NI | NI |
104 | Pancytopenia | 67 | M | NI | p.P258L | NI | NI | NI | NI | NI |
105 | Pancytopenia | 77 | M | Asian | p.Y259C | NI | NI | NI | NI | NI |
106 | Pancytopenia | 58 | M | Asian | p.R339L | NI | NI | NI | NI | NI |
107 | Thrombocytopenia | 81 | M | NI | p.D140fs | NI | NI | NI | NI | NI |
108 | Thrombocytopenia | 37 | F | Caucasian | p.T529fs | 423 | Y | AML (father) | No | No |
109 | Thrombocytopenia | 68 | M | Caucasian | p.M1I | NI | NI | NI | NI | NI |
110 | Neutropenia | 64 | M | NI | p.M1I | NI | NI | NI | NI | NI |
111 | Neutropenia | 78 | F | Caucasian | p.M1I | NI | NI | NI | NI | NI |
112 | Anemia | 70 | F | NI | p.R369* | NI | NI | NI | NI | NI |
113 | MPN | 40 | F | Caucasian | p.D140fs | 278 | Y | Leukemia (family members, not specified) | No | Breast and uterine cancers (mother) |
114 | MPN | 76 | F | Caucasian | p.M316fs | NI | NI | NI | NI | NI |
115 | MPN, ET | 41 | F | NI | p.Q306* | NI | NI | NI | NI | NI |
116 | MPN | 85 | M | NI | p.K381* | NI | NI | NI | NI | NI |
117 | AML | 48 | F | Caucasian | p.E2D | 96 | NI | NI | NI | NI |
118* | AML | 54 | F | NI | p.G19R | 61 | Y | NI | NI | NI |
119* | AML | 62 | F | NI | p.Y33H | 516 | Y | NI | NI | NI |
120 | AML | 76 | M | Caucasian | p.M155I | NI | NI | NI | NI | NI |
121 | AML | 56 | F | NI | p.M155I | 613 | N | No | No | No |
122* | AML | 63 | F | Caucasian | p.R164N | 365 | Y | No | No | No |
123 | AML | 84 | M | Caucasian | p.P510S | 216 | Y | NI | NI | NI |
124 | AML | 81 | M | Caucasian | p.M127K | 15 | N | No | No | No |
125 | AML | 47 | F | Caucasian | p.M155I | NI | NI | NI | NI | NI |
126 | AML | 72 | M | Caucasian | p.G67R | 180 | Y | No | No | No |
127 | AML | 72 | M | Caucasian | p.G67R | 150 | Y | No | No | No |
128* | AML | 46 | M | Caucasian | p.M155I | 146 | Y | No | No | Cancer of unknown origin (mother) |
129 | AML | 79 | M | Caucasian | p.A295T | 241 | Y | No | No | Cancer of unknown origin (mother and father) |
130 | AML | 55 | M | NI | p.I298T | NI | NI | NI | NI | NI |
131 | AML | 47 | F | Caucasian | p.E355K | 19 | N | No | No | No |
132 | AML | 67 | M | Caucasian | p.M155I | 1056 | Y | No | No | No |
133 | AML | 7 | F | NI | p.M155I | NI | NI | NI | NI | NI |
134 | AML | 64 | M | NI | p.? | 28 | Y | NI | NI | NI |
135 | MDS | 79 | F | Caucasian | p.G123S | NI | NI | NI | NI | NI |
136 | MDS | 63 | M | NI | p.M155I | NI | NI | NI | NI | NI |
137 | MDS | 73 | M | Caucasian | p.? | 420 | N | NI | NI | NI |
138 | MDS | 50 | M | Caucasian | p.G175S | NI | NI | NI | NI | NI |
139 | MDS | 84 | M | Caucasian | p.P177S | NI | NI | NI | NI | NI |
140 | MDS | 60 | M | Caucasian | p.P434L | 303 | Y | NI | NI | NI |
141 | MDS | 83 | F | Caucasian | p.P510S | NI | NI | NI | NI | NI |
142 | MDS | 78 | M | Caucasian | p.C568W | 516 | N | No | No | No |
143 | MDS/MPN | 56 | M | Caucasian | p.G587A | 183 | Y | NI | NI | No |
144 | MDS | 92 | M | Caucasian | p.E426K | NI | NI | NI | NI | NI |
145 | MDS | 65 | F | NI | p.P510S | 456 | Y | NI | NI | NI |
146 | MDS | 62 | M | Caucasian | p.A555T | 255 | Y | NI | NI | NI |
147 | Pancytopenia | 63 | M | NI | p.K9K | NI | NI | NI | NI | NI |
148 | Pancytopenia | 81 | M | Caucasian | p.M155I | NI | NI | NI | NI | NI |
149 | Pancytopenia; SCC | 77 | M | NI | p.M186L | NI | NI | NI | NI | NI |
150 | Pancytopenia | 85 | M | NI | p.R219H | NI | NI | NI | NI | NI |
151 | Pancytopenia | 84 | F | NI | p.R282H | NI | NI | NI | NI | NI |
152 | Pancytopenia | 85 | F | NI | p.C294F | 550 | Y | NI | NI | NI |
153 | Pancytopenia | 70 | M | NI | p.S493A | NI | NI | NI | NI | NI |
154 | Thrombocytopenia | 88 | M | Caucasian | p.M155I | 37 | Y | No | No | No |
155 | Thrombocytopenia | 78 | F | NI | p.T236M | NI | NI | NI | NI | NI |
156 | Thrombocytopenia | 39 | M | Caucasian | p.? | NI | NI | NI | NI | NI |
157 | Thrombocytopenia | 73 | M | Caucasian | p.? | 31 | Y | NI | NI | NI |
158 | Neutropenia | 43 | F | Caucasian | p.? | NI | NI | NI | NI | NI |
159 | Anemia | 69 | F | Caucasian | p.P251S | 1777 | Y | No | No | No |
160 | Anemia | 78 | M | Caucasian | p.A583V | NI | NI | NI | NI | NI |
161 | MPN, PV | 53 | F | Caucasian | p.R8Q | 87 | Y | No | No | Cancer of unknown origin (brother) |
162 | MPN, PV | 61 | M | Caucasian | p.D32N | 395 | Y | NI | NI | NI |
163 | MPN, ET | 72 | M | NI | p.A133V | NI | NI | NI | NI | NI |
164 | MPN | 49 | F | NI | p.I215T | 943 | Y | NI | NI | NI |
165 | MPN | 85 | F | NI | p.L216P | NI | NI | NI | NI | NI |
166 | MPN, ET | 69 | M | Caucasian | p.T236M | 918 | Y | No | No | No |
167 | MPN | 66 | M | Caucasian | p.V491I | 3839 | Y | No | No | No |
168 | MPN, ET | 54 | M | Caucasian | p.V544L | 664 | Y | NI | NI | NI |
169 | MPN, ET | 39 | F | NI | p.? | NI | NI | NI | NI | NI |
170 | MPN, ET | 7 | F | Asian | p.M155T | NI | NI | NI | NI | NI |
171 | MPN | 46 | F | Caucasian | p.K187R | NI | NI | NI | NI | NI |
172 | Pancytopenia; LPL | 77 | M | AA | p.R164W | 10 | Y | No | No | No |
173 | Y heavy chain disease; | 52 | M | NI | p.R164W | 7955 | Y | Myelofibrosis (mother) | No | Lung cancer (father) |
MYD88 negative LPL | ||||||||||
174 | CLL; breast cancer | 51 | F | NI | p.R164W | 1186 | Y | No | FL (mother) | Bladder & prostatic cancer (father) |
175 | CLL | 70 | M | Caucasian | p.P251S | 1004 | Y | No | No | No |
176 | MM | 82 | F | Caucasian | p.R10Q | 471 | N | No | No | No |
177 | AML | 64 | M | Asian | 1703 | Y | Leukemia (maternal uncle) | Gastric cancer (paternal grandfather) | ||
178 | AML | 74 | M | Caucasian | 578 | Y | No | No | Sarcoma (father) | |
179 | AML | 69 | F | Caucasian | 974 | Y | NI | NI | No | |
180 | AML | 54 | M | Caucasian | 42282 | N | No | No | Colon cancer (father) | |
181 | AML | 70 | F | Caucasian | 455 | Y | No | No | Breast cancer (paternal aunt) | |
182 | AML | 77 | M | Caucasian | NI | NI | NI | NI | NI | |
183 | AML | 70 | M | Caucasian | 81 | Y | No | No | No | |
184 | AML; DLBCL | 74 | M | Caucasian | NI | Y | No | No | Breast cancer (sisters × 2) | |
185 | MDS | 75 | M | Caucasian | 1127 | Y | No | No | No | |
186 | MDS | 71 | M | Caucasian | 2053 | Y | No | No | Cancer of unknown origin (mother and sister) | |
187 | MDS | 65 | F | Caucasian | 2466 | Y | No | No | Lung cancer (father); breast cancer (father's sister) | |
188 | MDS | 54 | M | Caucasian | 151 | Y | No | No | No | |
189 | MDS | 69 | M | Caucasian | 689 | N | No | No | Prostatic cancer (father) | |
190 | AML | 30 | M | NI | 304 | Y | NI | NI | NI | |
191 | AML | 63 | M | Caucasian | 21 | N | No | No | No | |
192 | MDS | 81 | M | Caucasian | NI | NI | NI | NI | NI | |
193 | MDS | 62 | M | Caucasian | 212 | Y | No | No | Yes | |
194 | MDS | 80 | F | Caucasian | NI | NI | NI | NI | NI | |
195 | Neutropenia | 86 | M | Caucasian | NI | NI | NI | NI | NI | |
196* | Normal | 43 | M | Caucasian | p.M1I | 65 | Y | MDS (father) | No | No |
197* | Normal | 69 | F | Caucasian | p.M1I | 496 | Y | Myeloid neoplasm (mother) | No | No |
198* | Normal | 28 | M | Caucasian | p.D140fs | 1044 | Y | AML (father) | No | No |
199* | Normal | 59 | F | Caucasian | p.D140fs | NI | Y | Leukemia (father) | NI | NI |
200* | Normal | 66 | M | Caucasian | p.D140fs | NI | Y | MDS (brother); AML (brothers); ALL (daughter) | No | Lung cancer (father) |
201* | Normal | 33 | Caucasian | p.K331del | 614 | Y | MDS (father) | No | Prostatic cancer (paternal uncle); pancreatic cancer (maternal aunt); lung cancer (maternal cousins); bile duct cancer (maternal cousin); melanoma and stomach cancer (paternal uncle); breast cancer (maternal great aunt) | |
202 | Normal∼(donor) | 71 | F | Caucasian | p.311* | 367/PHSCT | Y | No | No | |
203 | Normal∼(donor) | 59 | M | Caucasian | p.M155I | 2061/PHSCT | Y | No | No | No |
204 | Normal∼(donor) | 60 | M | Caucasian | p.V565M | 725/PHSCT | Y | NI | NI | NI |
205 | Normal∼(donor) | 71 | M | Caucasian | p.T529fs | 459/PHSCT | Y | No | No | No |