MCID: UTR024
MIFTS: 60

Uterine Carcinosarcoma

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Uterine Carcinosarcoma

MalaCards integrated aliases for Uterine Carcinosarcoma:

Name: Uterine Carcinosarcoma 12 54 60 56 6 15 17 74
Malignant Mixed Müllerian Tumor of the Corpus Uteri 54 60
Mixed Müllerian Cancer of Corpus Uteri 54 60
Carcinosarcoma of the Corpus Uteri 54 60
Malignant Mixed Müllerian Tumor of Corpus Uteri 54
Mixed Mullerian Sarcoma of Uterus 12
Uterine Corpus Carcinosarcoma 74

Classifications:



External Ids:

Disease Ontology 12 DOID:6171
NCIt 51 C42700
ICD10 via Orphanet 35 C54.9
Orphanet 60 ORPHA213610

Summaries for Uterine Carcinosarcoma

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 213610Disease definitionCarcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported.Visit the Orphanet disease page for more resources.

MalaCards based summary : Uterine Carcinosarcoma, also known as malignant mixed müllerian tumor of the corpus uteri, is related to leiomyosarcoma and carcinosarcoma, and has symptoms including pelvic pain An important gene associated with Uterine Carcinosarcoma is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Paclitaxel and Carboplatin have been mentioned in the context of this disorder. Affiliated tissues include uterus, ovary and colon, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A uterine body mixed cancer that has material basis in both endometrial carcinoma and sarcoma.

Related Diseases for Uterine Carcinosarcoma

Diseases related to Uterine Carcinosarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 233, show less)
# Related Disease Score Top Affiliating Genes
1 leiomyosarcoma 31.0 KIT PGR TP53
2 carcinosarcoma 30.9 CTNNB1 ERBB2 HRAS KIT MME PGR
3 sarcoma 30.8 CTNNB1 HRAS KIT PIK3CA TP53
4 fallopian tube carcinoma 30.3 ERBB2 PGR TP53
5 endometrial stromal sarcoma 30.2 KIT MME PGR TP53
6 wilms tumor 1 30.1 CTNNB1 ERBB2 FBXW7 PGR TP53
7 cervical squamous cell carcinoma 30.0 CDH1 CTNNB1 TP53
8 adenosarcoma 29.9 KIT MME PGR TP53
9 chordoma 29.9 CDH1 EGFR PTEN
10 cervical cancer 29.1 CDH1 CTNNB1 ERBB2 HRAS PIK3CA PTEN
11 squamous cell carcinoma 28.6 CDH1 CTNNB1 EGFR ERBB2 FGFR2 HRAS
12 adenocarcinoma 28.2 CDH1 CTNNB1 EGFR ERBB2 ERBB3 FGFR2
13 colorectal cancer 28.1 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
14 endometrial cancer 27.8 CDH1 CTNNB1 EGFR ERBB2 ESR2 FGFR2
15 breast cancer 27.4 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
16 malignant spiradenoma 10.6 PIK3CA TP53
17 rare adenocarcinoma of the breast 10.6 PIK3CA TP53
18 gastric papillary adenocarcinoma 10.6 ERBB2 TP53
19 thyroid hurthle cell adenoma 10.6 PIK3CA PTEN
20 apocrine adenoma 10.6 HRAS PIK3CA
21 prostate adenoid cystic carcinoma 10.6 HRAS PIK3CA
22 endometrium carcinoma in situ 10.6 PGR TP53
23 prostate transitional cell carcinoma 10.6 CTNNB1 PIK3CA
24 intracystic papillary adenoma 10.6 ERBB2 PGR
25 scirrhous adenocarcinoma 10.6 ERBB2 PGR
26 thymoma, familial 10.6 HRAS KIT
27 breast metaplastic carcinoma 10.6 ERBB2 PGR
28 breast medullary carcinoma 10.6 ERBB2 PGR
29 breast apocrine carcinoma 10.5 ERBB2 PGR
30 glassy cell carcinoma of the cervix 10.5 ERBB2 PGR
31 bent bone dysplasia syndrome 10.5 ERBB2 FGFR2
32 immunodeficiency 14 10.5 PIK3R1 PTEN
33 protoplasmic astrocytoma 10.5 PTGS2 TP53
34 brain ependymoma 10.5 EGFR TP53
35 female breast cancer 10.5 ERBB2 PGR TP53
36 peutz-jeghers syndrome 10.5 CTNNB1 PTEN TP53
37 sweat gland cancer 10.5 ERBB2 PGR TP53
38 breast intraductal proliferative lesion 10.5 EGFR ERBB2
39 cell type benign neoplasm 10.5 CTNNB1 HRAS TP53
40 muscle cancer 10.4 KIT PGR TP53
41 anal squamous cell carcinoma 10.4 FBXW7 PIK3CA TP53
42 adult hepatocellular carcinoma 10.4 CTNNB1 PIK3CA TP53
43 synchronous bilateral breast carcinoma 10.4 PGR PTEN TP53
44 li-fraumeni syndrome 10.4 EGFR PTEN TP53
45 brain stem glioma 10.4 EGFR PIK3CA TP53
46 supratentorial cancer 10.4 EGFR PTEN TP53
47 giant cell glioblastoma 10.4 EGFR PTEN TP53
48 grade iii astrocytoma 10.4 EGFR PTEN TP53
49 nervous system cancer 10.4 EGFR PTEN TP53
50 central nervous system cancer 10.4 EGFR PTEN TP53
51 cerebrum cancer 10.4 EGFR PTEN TP53
52 aggressive digital papillary adenocarcinoma 10.4 HRAS KIT PIK3CA
53 prostate squamous cell carcinoma 10.4 HRAS PPP2R1A TP53
54 ovarian melanoma 10.4 HRAS KIT PTEN
55 lung adenoid cystic carcinoma 10.4 HRAS KIT PIK3CA
56 bartholin's gland disease 10.4 ERBB3 PGR TP53
57 ureteral obstruction 10.4 CTNNB1 PTGS2 TP53
58 lung benign neoplasm 10.4 EGFR HRAS TP53
59 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 10.4 PIK3CA PPP2R1A PTEN TP53
60 epithelial-myoepithelial carcinoma 10.4 FBXW7 HRAS TP53
61 differentiated thyroid carcinoma 10.4 EGFR HRAS TP53
62 bladder adenocarcinoma 10.4 CTNNB1 FBXW7 HRAS
63 ovarian clear cell carcinoma 10.4 PIK3CA PPP2R1A PTEN TP53
64 skin squamous cell carcinoma 10.4 FBXW7 HRAS PIK3CA TP53
65 malignant peripheral nerve sheath tumor 10.4 EGFR KIT TP53
66 ovary adenocarcinoma 10.3 ERBB2 HRAS PIK3CA TP53
67 breast adenoid cystic carcinoma 10.3 ERBB2 KIT PGR
68 fallopian tube endometrioid adenocarcinoma 10.3 ERBB2 MME
69 esophagus adenocarcinoma 10.3 ERBB2 PTGS2 TP53
70 embryonal sarcoma 10.3 CTNNB1 KIT TP53
71 female reproductive endometrioid cancer 10.3 CTNNB1 PGR PTEN TP53
72 uterine corpus serous adenocarcinoma 10.3 ERBB2 FBXW7 PIK3CA PPP2R1A TP53
73 testicular germ cell tumor 10.3 HRAS KIT PTEN TP53
74 progesterone-receptor negative breast cancer 10.3 EGFR ERBB2 PGR
75 gliomatosis cerebri 10.3 EGFR PTEN TP53
76 breast scirrhous carcinoma 10.3 EGFR ERBB2 PGR
77 breast squamous cell carcinoma 10.3 EGFR ERBB2 PIK3CA TP53
78 hidradenocarcinoma 10.2 EGFR ERBB2 TP53
79 recurrent respiratory papillomatosis 10.2 EGFR PTGS2 TP53
80 acneiform dermatitis 10.2 EGFR ERBB2 HRAS PIK3CA
81 adenosquamous lung carcinoma 10.2 EGFR ERBB2 HRAS PIK3CA
82 cerebral convexity meningioma 10.2 CDH1 TP53
83 cervical adenocarcinoma 10.2 ERBB2 PGR PTGS2 TP53
84 progesterone-receptor positive breast cancer 10.2 ERBB2 ESR2 PGR
85 esophageal basaloid squamous cell carcinoma 10.2 CTNNB1 EGFR TP53
86 microglandular adenosis 10.2 EGFR ERBB2 PGR TP53
87 gastrointestinal system benign neoplasm 10.2 CTNNB1 HRAS PTGS2 TP53
88 intestinal benign neoplasm 10.2 CTNNB1 HRAS PTGS2 TP53
89 adenosquamous carcinoma 10.2 EGFR KIT PIK3CA TP53
90 leukocyte disease 10.2 KIT MME TP53
91 breast cystic hypersecretory carcinoma 10.2 CDH1 ERBB2
92 mucinous lung adenocarcinoma 10.2 EGFR ERBB2 ERBB3 HRAS
93 primary peritoneal carcinoma 10.2 EGFR ERBB2 PGR TP53
94 small cell carcinoma 10.2 EGFR KIT PTEN TP53
95 breast fibroadenoma 10.2 ERBB2 MME PGR
96 colorectal adenoma 10.2 CTNNB1 HRAS PTGS2 TP53
97 breast carcinoma in situ 10.2 EGFR ERBB2 PGR TP53
98 barrett's adenocarcinoma 10.2 ERBB2 PTGS2 TP53
99 dysgerminoma of ovary 10.2 FGFR2 KIT PGR
100 luminal breast carcinoma 10.2 EGFR ERBB2 ERBB3 PGR
101 mammary paget's disease 10.2 EGFR ERBB2 PGR
102 uterine body mixed cancer 10.2 ERBB2 FBXW7 PGR PIK3CA PPP2R1A TP53
103 uterine corpus cancer 10.2 ERBB2 FBXW7 PGR PIK3CA PPP2R1A TP53
104 rhabdomyosarcoma 10.2
105 esophageal disease 10.1 EGFR ERBB2 PTGS2 TP53
106 bladder disease 10.1 CDH1 ERBB2 TP53
107 thymoma 10.1 EGFR HRAS KIT TP53
108 cervical carcinosarcoma 10.1 MME PGR TP53
109 small cell cancer of the lung 10.1 EGFR KIT PIK3CA PTEN TP53
110 gliosarcoma 10.1 EGFR PTEN SNAI2 TP53
111 myeloma, multiple 10.1 HRAS KIT MME TP53
112 hematologic cancer 10.1 HRAS KIT MME TP53
113 melanoma, cutaneous malignant 1 10.1 CTNNB1 HRAS KIT PIK3CA PTEN TP53
114 benign breast phyllodes tumor 10.1 KIT MME PGR
115 exanthem 10.1 EGFR ERBB2 HRAS
116 cervix disease 10.1 CDH1 CTNNB1 TP53
117 cystic nephroma 10.1 KIT MME PGR
118 glioma 10.1 EGFR ERBB2 PIK3CA PTEN TP53
119 papillary carcinoma 10.1 CDH1 ERBB2 PGR
120 tongue cancer 10.1 CDH1 CTNNB1 TP53
121 nasopharyngeal disease 10.1 CDH1 CTNNB1 TP53
122 sporadic breast cancer 10.1 ERBB2 ESR2 PGR PTEN TP53
123 breast adenocarcinoma 10.1 EGFR ERBB2 PIK3CA PPP2R1A PTEN TP53
124 breast benign neoplasm 10.1 ERBB2 MME PGR TP53
125 perivascular epithelioid cell tumor 10.1 KIT MME PGR
126 thoracic benign neoplasm 10.1 ERBB2 MME PGR TP53
127 penile cancer 10.1 EGFR PIK3CA TP53
128 cystadenocarcinoma 10.1 ERBB2 FBXW7 HRAS PGR PIK3CA PPP2R1A
129 ovarian serous cystadenocarcinoma 10.0 ERBB2 FBXW7 HRAS PGR PIK3CA PPP2R1A
130 sarcoma, synovial 10.0 CDH1 CTNNB1 KIT
131 breast duct papilloma 10.0 PGR PTEN
132 pancreatic mucinous cystadenoma 10.0 HRAS MME PGR
133 papillary hidradenoma 10.0 KIT MME PGR PIK3CA
134 ovarian disease 10.0 ESR2 PGR PTEN TP53
135 urinary tract obstruction 10.0 CDH1 PIK3CA PTGS2
136 smooth muscle tumor 10.0 KIT MME PGR
137 gastrointestinal stromal tumor 10.0 EGFR KIT PTEN TP53
138 laryngeal squamous cell carcinoma 10.0 CDH1 EGFR TP53
139 sarcomatoid renal cell carcinoma 10.0 CDH1 KIT TP53
140 endometriosis 10.0 ESR2 PGR PTEN PTGS2
141 glioblastoma multiforme 10.0 EGFR ERBB2 PIK3CA PIK3R1 PTEN TP53
142 estrogen-receptor positive breast cancer 10.0 EGFR ERBB2 FGFR2 PGR PIK3CA TP53
143 brain cancer 10.0 CTNNB1 EGFR HRAS PIK3CA PTEN TP53
144 ovarian cancer 1 10.0 CDH1 ERBB2 PIK3CA TP53
145 tongue disease 9.9 CDH1 CTNNB1 TP53
146 papillary adenocarcinoma 9.9 CDH1 ERBB2 PGR TP53
147 wilms tumor 5 9.9
148 wilms tumor 6 9.9
149 angiosarcoma 9.9
150 large cell neuroendocrine carcinoma 9.9
151 thrombosis 9.9
152 hemopericardium 9.9
153 cardiac tamponade 9.9
154 pericardial effusion 9.9
155 patulous eustachian tube 9.9
156 neuroendocrine carcinoma 9.9
157 embryonal rhabdomyosarcoma 9.9
158 lynch syndrome 9.9
159 spindle cell sarcoma 9.9
160 uterine sarcoma 9.9
161 didelphys uterus 9.9
162 bile duct adenocarcinoma 9.9 CDH1 HRAS TP53
163 tubular adenocarcinoma 9.9 CDH1 ERBB2 PGR
164 breast disease 9.9 ERBB2 ESR2 PGR TP53
165 meningioma, familial 9.9 CDH1 PGR PTEN TP53
166 gastric signet ring cell adenocarcinoma 9.9 CDH1 PGR SNAI2
167 male reproductive system disease 9.9 CDH1 ESR2 PTEN TP53
168 epstein-barr virus-associated gastric carcinoma 9.8 CDH1 CTNNB1 PIK3CA
169 oropharynx cancer 9.8 CDH1 EGFR KIT TP53
170 medulloblastoma 9.8 CTNNB1 EGFR ERBB2 ERBB3 FBXW7 PIK3CA
171 inflammatory breast carcinoma 9.8 CDH1 EGFR ERBB2 PGR
172 lipid-rich carcinoma 9.8 CDH1 EGFR ERBB2 PGR
173 leiomyoma 9.8 ESR2 KIT MME PGR
174 laryngeal disease 9.8 CDH1 EGFR TP53
175 respiratory system disease 9.8 CDH1 EGFR HRAS TP53
176 renal cell carcinoma, papillary, 1 9.8 ERBB2 HRAS KIT MME PIK3CA PTEN
177 serous cystadenocarcinoma 9.8 ERBB2 ESR2 FBXW7 HRAS PGR PIK3CA
178 familial adenomatous polyposis 9.8 CDH1 CTNNB1 PTGS2 TP53
179 tonsil cancer 9.8 CDH1 ERBB2 KIT SNAI2 TP53
180 malignant ovarian surface epithelial-stromal neoplasm 9.8 CDH1 ERBB2 HRAS PGR PIK3CA TP53
181 ovary epithelial cancer 9.8 CDH1 ERBB2 HRAS PGR PIK3CA TP53
182 clear cell renal cell carcinoma 9.8 CDH1 MME PTEN TP53
183 lobular neoplasia 9.8 CDH1 CTNNB1 ERBB2 ESR2
184 bladder cancer 9.8 CDH1 EGFR ERBB2 HRAS TP53
185 suppression of tumorigenicity 12 9.8 CDH1 CTNNB1 HRAS PIK3CA PTEN TP53
186 oral cancer 9.8 CDH1 EGFR PTGS2 TP53
187 mixed cell type cancer 9.8 ERBB2 HRAS KIT MME PGR PPP2R1A
188 pre-malignant neoplasm 9.7 CDH1 EGFR ERBB2 PGR TP53
189 in situ carcinoma 9.7 CDH1 EGFR ERBB2 PGR TP53
190 pharynx cancer 9.7 CDH1 CTNNB1 EGFR KIT TP53
191 oral cavity cancer 9.7 CDH1 EGFR ERBB2 PIK3CA PTEN TP53
192 male reproductive organ cancer 9.7 CDH1 CTNNB1 ESR2 PTEN TP53
193 intrahepatic cholangiocarcinoma 9.7 CDH1 CTNNB1 EGFR FGFR2 TP53
194 breast adenomyoepithelioma 9.7 CDH1 MME PIK3CA PIK3R1
195 breast myoepithelial neoplasm 9.7 CDH1 MME PIK3CA PIK3R1
196 glioblastoma 9.7 EGFR ERBB2 ERBB3 FGFR2 HRAS PIK3CA
197 nasopharyngeal carcinoma 9.6 CDH1 EGFR HRAS PIK3CA TP53
198 uterine anomalies 9.6 CDH1 CTNNB1 ERBB2 PGR PIK3CA PTEN
199 bladder urothelial carcinoma 9.6 CDH1 CTNNB1 ERBB2 HRAS KIT PIK3CA
200 breast ductal carcinoma 9.6 CDH1 CTNNB1 EGFR ERBB2 PGR TP53
201 gallbladder cancer 9.6 CDH1 EGFR ERBB2 PIK3CA PTGS2 TP53
202 endometrial adenocarcinoma 9.6 CTNNB1 EGFR ERBB2 ESR2 FGFR2 PGR
203 adenomyosis 9.6 CDH1 MME PGR PTGS2
204 ductal carcinoma in situ 9.6 CDH1 EGFR ERBB2 PGR PTGS2 TP53
205 stomach disease 9.6 CDH1 CTNNB1 EGFR ERBB2 PTGS2 TP53
206 colonic disease 9.5 CDH1 CTNNB1 EGFR HRAS PTGS2 TP53
207 colorectal adenocarcinoma 9.5 CDH1 CTNNB1 EGFR HRAS PTGS2 TP53
208 endocrine gland cancer 9.5 CDH1 CTNNB1 EGFR ERBB2 HRAS PTEN
209 lung squamous cell carcinoma 9.5 CDH1 EGFR FGFR2 HRAS PIK3CA PTEN
210 pancreatic cancer 9.5 CDH1 CTNNB1 EGFR ERBB2 HRAS PIK3CA
211 intestinal disease 9.5 CDH1 CTNNB1 EGFR HRAS PIK3CA PTGS2
212 respiratory system cancer 9.5 CDH1 CTNNB1 EGFR ERBB2 HRAS PIK3CA
213 thyroid cancer 9.4 CDH1 CTNNB1 EGFR HRAS KIT PIK3CA
214 transitional cell carcinoma 9.4 CDH1 EGFR ERBB2 ERBB3 HRAS PTEN
215 pancreas adenocarcinoma 9.4 CDH1 CTNNB1 EGFR ERBB2 HRAS PIK3CA
216 colon adenocarcinoma 9.3 CDH1 CTNNB1 ESR2 PTGS2
217 gastrointestinal system disease 9.3 CDH1 CTNNB1 EGFR ERBB2 HRAS KIT
218 hepatocellular carcinoma 9.3 CDH1 CTNNB1 EGFR HRAS PIK3CA PTEN
219 female reproductive system disease 9.3 CDH1 CTNNB1 EGFR ERBB2 ESR2 PGR
220 esophageal cancer 9.3 CDH1 CTNNB1 EGFR ERBB2 HRAS PIK3CA
221 adamantinoma of long bones 9.2 CDH1 CTNNB1 EGFR ERBB2 PGR PIK3CA
222 gastric cancer 9.2 CDH1 CTNNB1 EGFR ERBB2 FGFR2 PIK3CA
223 squamous cell carcinoma, head and neck 9.2 CDH1 CTNNB1 EGFR ERBB2 ERBB3 HRAS
224 gastrointestinal system cancer 9.1 CDH1 CTNNB1 EGFR ERBB2 HRAS KIT
225 reproductive system disease 9.1 CDH1 CTNNB1 EGFR ERBB2 ESR2 PGR
226 adenoid cystic carcinoma 9.0 CDH1 CTNNB1 ERBB2 FBXW7 HRAS KIT
227 cholangiocarcinoma 9.0 CDH1 CTNNB1 EGFR ERBB2 MME PIK3CA
228 gastric adenocarcinoma 9.0 CDH1 CTNNB1 EGFR ERBB2 FGFR2 HRAS
229 lung cancer susceptibility 3 9.0 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
230 lung cancer 8.9 CDH1 EGFR ERBB2 ERBB3 FGFR2 HRAS
231 ovarian cancer 8.9 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
232 large intestine cancer 8.6 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
233 prostate cancer 8.6 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2

Graphical network of the top 20 diseases related to Uterine Carcinosarcoma:



Diseases related to Uterine Carcinosarcoma

Symptoms & Phenotypes for Uterine Carcinosarcoma

UMLS symptoms related to Uterine Carcinosarcoma:


pelvic pain

GenomeRNAi Phenotypes related to Uterine Carcinosarcoma according to GeneCards Suite gene sharing:

27 (showing 46, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.72 EGFR HRAS PIK3CA
2 Decreased viability GR00106-A-0 10.72 ERBB3
3 Decreased viability GR00221-A-1 10.72 CDH1 KIT EGFR HRAS PIK3CA PIK3R1
4 Decreased viability GR00221-A-2 10.72 ERBB3 HRAS PIK3CA
5 Decreased viability GR00221-A-3 10.72 HRAS PIK3R1
6 Decreased viability GR00221-A-4 10.72 ERBB3 EGFR PIK3CA
7 Decreased viability GR00301-A 10.72 CDH1 ERBB3 FGFR2 KIT
8 Decreased viability GR00342-S-1 10.72 FGFR2
9 Decreased viability GR00342-S-2 10.72 ERBB3 FGFR2
10 Decreased viability GR00342-S-3 10.72 ERBB3 FGFR2
11 Decreased viability GR00402-S-2 10.72 CDH1 ERBB3 FGFR2 KIT EGFR HRAS
12 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.47 PIK3R1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.47 PIK3R1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.47 EGFR
15 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.47 EGFR FBXW7
16 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.47 FBXW7
17 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.47 FBXW7
18 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.47 FBXW7
19 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.47 SOX4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.47 FBXW7 PIK3R1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-183 10.47 FBXW7 HRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.47 EGFR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.47 SOX4
24 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.47 HRAS
25 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.47 SOX4
26 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.47 PIK3R1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.47 EGFR
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.47 EGFR PIK3R1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.47 EGFR FBXW7 HRAS PIK3R1 SOX4
30 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.47 FBXW7
31 Increased shRNA abundance (Z-score > 2) GR00366-A-65 10.47 SOX4
32 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.47 SOX4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.47 SOX4
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.47 HRAS
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.47 EGFR
36 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.47 PIK3R1
37 Decreased substrate adherent cell growth GR00193-A-1 10.03 ERBB3 KIT
38 Decreased substrate adherent cell growth GR00193-A-2 10.03 EGFR ERBB3 FGFR2 KIT
39 Decreased substrate adherent cell growth GR00193-A-3 10.03 FGFR2
40 Decreased substrate adherent cell growth GR00193-A-4 10.03 KIT
41 Increased cell death HMECs cells GR00103-A-0 10.02 CTNNB1 EGFR ERBB3 FBXW7 PGR PIK3CA
42 Decreased focal adhesion (FA) area, decreased FA length, decreased FA mean intensity, increased number of small and round FAs, increased FA abundance GR00210-A 10 CTNNB1 EGFR ERBB2 FGFR2 HRAS PPP2R1A
43 Increased transferrin (TF) endocytosis GR00363-A 9.97 EGFR ERBB2 ESR2 FBXW7 HRAS KIT
44 Increased cell viability after pRB stimulation GR00230-A-1 9.62 EGFR ERBB2 ERBB3 KIT
45 Reduced mammosphere formation GR00396-S 9.56 CDH1 EGFR ERBB3 HRAS PIK3R1 PPP2R1A
46 Synthetic lethal with c-Myc after tamoxifen stimulation GR00215-A 9.02 CDH1 ERBB3 FBXW7 PTEN SOX4

MGI Mouse Phenotypes related to Uterine Carcinosarcoma:

47 (showing 28, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.58 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
2 homeostasis/metabolism MP:0005376 10.57 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
3 growth/size/body region MP:0005378 10.55 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
4 cellular MP:0005384 10.53 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
5 endocrine/exocrine gland MP:0005379 10.53 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
6 behavior/neurological MP:0005386 10.51 CTNNB1 ERBB2 ERBB3 ESR2 FGFR2 HRAS
7 integument MP:0010771 10.5 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
8 digestive/alimentary MP:0005381 10.49 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
9 immune system MP:0005387 10.49 CDH1 CTNNB1 EGFR ERBB3 ESR2 FBXW7
10 mortality/aging MP:0010768 10.49 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
11 embryo MP:0005380 10.48 CDH1 CTNNB1 EGFR ERBB2 ERBB3 FBXW7
12 neoplasm MP:0002006 10.41 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
13 hematopoietic system MP:0005397 10.39 CTNNB1 EGFR ESR2 FBXW7 FGFR2 KIT
14 nervous system MP:0003631 10.33 CTNNB1 EGFR ERBB2 ERBB3 ESR2 FBXW7
15 normal MP:0002873 10.33 CDH1 CTNNB1 EGFR ERBB2 ERBB3 ESR2
16 craniofacial MP:0005382 10.32 CTNNB1 EGFR ERBB2 FBXW7 FGFR2 HRAS
17 muscle MP:0005369 10.31 CTNNB1 EGFR ERBB2 ERBB3 ESR2 FGFR2
18 liver/biliary system MP:0005370 10.26 CTNNB1 EGFR ESR2 FBXW7 FGFR2 KIT
19 adipose tissue MP:0005375 10.24 EGFR ESR2 FGFR2 PIK3CA PIK3R1 PTEN
20 limbs/digits/tail MP:0005371 10.24 CTNNB1 EGFR ERBB2 ESR2 FGFR2 KIT
21 no phenotypic analysis MP:0003012 10.17 CDH1 CTNNB1 EGFR ESR2 FGFR2 HRAS
22 reproductive system MP:0005389 10.07 CDH1 CTNNB1 EGFR ERBB2 ESR2 FGFR2
23 hearing/vestibular/ear MP:0005377 10.06 CTNNB1 EGFR ESR2 FGFR2 KIT TP53
24 renal/urinary system MP:0005367 10.02 CTNNB1 EGFR ESR2 FGFR2 HRAS KIT
25 pigmentation MP:0001186 9.97 CTNNB1 EGFR ERBB3 FGFR2 KIT PTEN
26 respiratory system MP:0005388 9.97 CTNNB1 EGFR ERBB2 ERBB3 ESR2 FBXW7
27 skeleton MP:0005390 9.8 CTNNB1 EGFR ERBB2 ESR2 FGFR2 HRAS
28 vision/eye MP:0005391 9.36 CTNNB1 EGFR FBXW7 FGFR2 KIT PIK3CA

Drugs & Therapeutics for Uterine Carcinosarcoma

Drugs for Uterine Carcinosarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 80, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Paclitaxel Approved, Vet_approved Phase 3,Phase 2,Phase 1,Not Applicable 33069-62-4 36314
2
Carboplatin Approved Phase 3,Phase 2,Phase 1,Not Applicable 41575-94-4 10339178 38904 498142
3
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
4
Ifosfamide Approved Phase 3 3778-73-2 3690
5
Lenograstim Approved, Investigational Phase 3 135968-09-1
6
Mesna Approved, Investigational Phase 3 3375-50-6 598
7
Cisplatin Approved Phase 3 15663-27-1 2767 441203 84093
8
Doxorubicin Approved, Investigational Phase 3,Phase 2 23214-92-8 31703
9
Histamine Approved, Investigational Phase 3 51-45-6 774
10
Cyproheptadine Approved Phase 3 129-03-3 2913
11
Doxil Approved June 1999 Phase 3,Phase 2 31703
12 Antimitotic Agents Phase 3,Phase 2,Phase 1,Not Applicable
13 Antineoplastic Agents, Alkylating Phase 3,Phase 2
14 Antineoplastic Agents, Phytogenic Phase 3,Phase 2,Phase 1,Not Applicable
15 Alkylating Agents Phase 3,Phase 2
16 Albumin-Bound Paclitaxel Phase 3,Phase 2,Phase 1,Not Applicable
17
Isophosphamide mustard Phase 3 0
18 Antibiotics, Antitubercular Phase 3,Phase 2
19 Anti-Bacterial Agents Phase 3,Phase 2
20 Topoisomerase Inhibitors Phase 3,Phase 2
21 Histamine Antagonists Phase 3
22 Neurotransmitter Agents Phase 3
23 Gastrointestinal Agents Phase 3
24 Serotonin Agents Phase 3
25 Serotonin Antagonists Phase 3
26 Anti-Allergic Agents Phase 3
27 Antipruritics Phase 3
28 Dermatologic Agents Phase 3
29 Histamine H1 Antagonists Phase 3
30
Histamine Phosphate Phase 3 51-74-1 65513
31
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
32
Gemcitabine Approved Phase 2 95058-81-4 60750
33
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
34
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
35
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
36
Bevacizumab Approved, Investigational Phase 2,Phase 1 216974-75-3
37
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
38
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
39
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
40
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
41
Trabectedin Approved, Investigational Phase 2 114899-77-3 108150
42
Doxycycline Approved, Investigational, Vet_approved Phase 2 564-25-0 54671203
43
Metformin Approved Phase 2 657-24-9 14219 4091
44
Durvalumab Approved, Investigational Phase 2 1428935-60-7
45
Olaparib Approved Phase 2 763113-22-0 23725625
46
Topotecan Approved, Investigational Phase 2 119413-54-6, 123948-87-8 60700
47
Vorinostat Approved, Investigational Phase 2 149647-78-9 5311
48
Iniparib Investigational Phase 2 160003-66-7
49
Saracatinib Investigational Phase 2 379231-04-6
50 Antiviral Agents Phase 2
51 Immunosuppressive Agents Phase 2
52 Immunologic Factors Phase 2,Phase 1
53 Anti-Infective Agents Phase 2
54 Antimetabolites, Antineoplastic Phase 2
55 Antimetabolites Phase 2
56 Poly(ADP-ribose) Polymerase Inhibitors Phase 2,Phase 1
57 Angiogenesis Inhibitors Phase 2,Phase 1
58 Angiogenesis Modulating Agents Phase 2,Phase 1
59 Epothilone B Phase 2
60 Epothilones Phase 2
61 Protein Kinase Inhibitors Phase 2,Phase 1
62 Imatinib Mesylate Phase 2,Phase 1 220127-57-1 123596
63 Endothelial Growth Factors Phase 2,Phase 1
64 Antibodies, Monoclonal Phase 2,Phase 1
65 Mitogens Phase 2,Phase 1
66 Antibodies Phase 2,Phase 1
67 Liver Extracts Phase 2
68 Immunoglobulins Phase 2,Phase 1
69 Antifungal Agents Phase 2
70 Antineoplastic Agents, Immunological Phase 2,Phase 1
71 Immunoglobulin G Phase 2,Phase 1
72 Antiparasitic Agents Phase 2
73 Antimalarials Phase 2
74 Antiprotozoal Agents Phase 2
75 Hypoglycemic Agents Phase 2
76 topoisomerase I inhibitors Phase 2
77 Histone Deacetylase Inhibitors Phase 2
78
Rucaparib Approved, Investigational Phase 1 283173-50-2 9931954
79 Maytansine Phase 1
80 Immunoconjugates Phase 1

Interventional clinical trials:

(showing 43, show less)
# Name Status NCT ID Phase Drugs
1 Ifosfamide With or Without Paclitaxel in Treating Patients With Advanced, Refractory, or Recurrent Cancer of the Uterus Completed NCT00003128 Phase 3 ifosfamide;paclitaxel
2 Radiation Therapy or No Further Treatment Following Surgery in Treating Patients With Cancer of the Uterus Completed NCT00002459 Phase 3
3 Radiation Therapy Compared With Combination Chemotherapy in Treating Patients With Cancer of the Uterus Completed NCT00002546 Phase 3 cisplatin;ifosfamide
4 Surgery With or Without Chemotherapy in Treating Patients With Soft Tissue Sarcoma Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
5 Short Course Vaginal Cuff Brachytherapy in Treating Patients With Stage I-II Endometrial Cancer Recruiting NCT03422198 Phase 3
6 Paclitaxel and Carboplatin or Ifosfamide in Treating Patients With Newly Diagnosed, Persistent or Recurrent Uterine, Ovarian, Fallopian Tube, or Peritoneal Cavity Cancer Active, not recruiting NCT00954174 Phase 3 Carboplatin;Ifosfamide;Paclitaxel
7 Cyproheptadine in Preventing Weight Loss in Children Receiving Chemotherapy for Cancer Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
8 Pazopanib vs. Pazopanib Plus Gemcitabine in Patients With Relapsed or Metastatic Uterine Leiomyosarcomas or Uterine Carcinosarcomas: a Multi-center, Randomized Phase-II Clinical Trial of the NOGGO and AGO - PazoDoble - Unknown status NCT02203760 Phase 2 Pazopanib plus Gemcitabine;Pazopanib
9 Temozolomide in Treating Patients With Advanced Soft Tissue Sarcoma Unknown status NCT00003718 Phase 2 temozolomide
10 Evaluation of Paclitaxel (Taxol, NSC #673089), Carboplatin (Paraplatin, NSC #241240), and BSI-201 (NSC #746045, IND #71,677) in the Treatment of Advanced, Persistent, or Recurrent Uterine Carcinosarcoma Completed NCT00687687 Phase 2 paclitaxel;carboplatin;BSI-201 (Iniparib)
11 Thalidomide in Treating Patients With Recurrent or Persistent Carcinosarcoma of the Uterus Completed NCT00025506 Phase 2 Thalidomide
12 Pazopanib Hydrochloride in Treating Patients With Recurrent or Persistent Uterine Cancer Completed NCT01247571 Phase 2 Pazopanib Hydrochloride
13 Ixabepilone in Treating Patients With Recurrent or Persistent Uterine Cancer Completed NCT01168232 Phase 2 Ixabepilone
14 Gemcitabine and Docetaxel in Treating Patients With Recurrent or Persistent Uterine Cancer Completed NCT00114218 Phase 2 Gemcitabine Hydrochloride;Docetaxel
15 Imatinib Mesylate in Treating Patients With Recurrent or Persistent Uterine Cancer Completed NCT00075400 Phase 2 imatinib mesylate
16 Paclitaxel and Carboplatin in Treating Patients With Persistent or Recurrent Stage III or Stage IV Uterine Cancer Completed NCT00112489 Phase 2 carboplatin;paclitaxel
17 Sorafenib in Treating Patients With Advanced or Recurrent Uterine Cancer Completed NCT00238121 Phase 2 sorafenib tosylate
18 Chemotherapy in Treating Patients With Sarcoma of the Uterus Completed NCT00005643 Phase 2 pegylated liposomal doxorubicin hydrochloride
19 Temsirolimus and Bevacizumab in Treating Patients With Advanced Endometrial, Ovarian, Liver, Carcinoid, or Islet Cell Cancer Completed NCT01010126 Phase 2 Temsirolimus
20 AZD0530 in Treating Patients With Recurrent Locally Advanced or Metastatic Soft Tissue Sarcoma Completed NCT00659360 Phase 2 saracatinib
21 Ziv-aflibercept in Treating Patients With Locally Advanced, Unresectable, or Metastatic Gynecologic Soft Tissue Sarcoma Completed NCT00390234 Phase 2 ziv-aflibercept
22 Sorafenib in Treating Patients With Metastatic, Locally Advanced, or Recurrent Sarcoma Completed NCT00245102 Phase 2 sorafenib tosylate
23 Sunitinib in Treating Patients With Metastatic, Locally Advanced, or Locally Recurrent Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
24 Combination Chemotherapy in Treating Patients With Endometrial Cancer, Fallopian Tube Cancer, or Sarcoma of the Female Reproductive Tract Completed NCT00003334 Phase 2 paclitaxel;pegylated liposomal doxorubicin hydrochloride
25 Ecteinascidin 743 in Treating Patients With Advanced Soft Tissue Sarcoma Completed NCT00003939 Phase 2 trabectedin
26 STI571 in Treating Patients With Recurrent or Refractory Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
27 Thalidomide in Treating Patients With Gynecologic Sarcomas Completed NCT00006005 Phase 2 thalidomide
28 Multicenter Trial With PegLiposomal Doxorubicin and Carboplatin Combination Chemotherapy in Gynecological Sarcomas and Mixed Epithelial-Mesenchymal Tumors Completed NCT00815945 Phase 2 PegLiposomal Doxorubicin;Carboplatin
29 Metformin Hydrochloride and Doxycycline in Treating Patients With Localized Breast or Uterine Cancer Recruiting NCT02874430 Phase 2 Metformin Hydrochloride;Doxycycline
30 Sunitinib Malate in Treating Patients With Recurrent or Metastatic Endometrial Cancer Active, not recruiting NCT00478426 Phase 2 Sunitinib Malate
31 Cabozantinib S-Malate in Treating Patients With Recurrent or Metastatic Endometrial Cancer Active, not recruiting NCT01935934 Phase 2 Cabozantinib S-malate
32 Trial On Trabectedin In The Treatment Of Advanced Uterine And Ovarian Carcinosarcoma (CS)_MITO 26 Not yet recruiting NCT02993705 Phase 2 Trabectedin
33 Durvalumab and Olaparib in Metastatic or Recurrent Endometrial Cancer Not yet recruiting NCT03951415 Phase 2 PARP inhibitor and Anti-PD-L1
34 Temsirolimus in Treating Patients With Recurrent or Persistent Cancer of the Uterus Terminated NCT01061606 Phase 2 temsirolimus
35 Topotecan in Treating Patients With Recurrent or Refractory Cancer of the Uterus Terminated NCT00003156 Phase 2 topotecan hydrochloride
36 Vorinostat (SAHA) in Uterine Sarcoma Terminated NCT03509207 Phase 2 Vorinostat Oral Capsule
37 Paclitaxel/Carboplatin + Galunisertib for Patients With Carcinosarcoma of the Uterus or Ovary Recruiting NCT03206177 Phase 1 Galunisertib;Paclitaxel;Carboplatin
38 Mirvetuximab Soravtansine and Rucaparib Camsylate in Treating Participants With Recurrent Endometrial, Ovarian, Fallopian Tube or Primary Peritoneal Cancer Recruiting NCT03552471 Phase 1 Rucaparib Camsylate
39 Paclitaxel Albumin-Stabilized Nanoparticle Formulation and Bevacizumab in Treating Patients With Stage IV Melanoma That Cannot Be Removed by Surgery or Gynecological Cancers Suspended NCT02020707 Phase 1 Paclitaxel Albumin-Stabilized Nanoparticle Formulation
40 Radiation Therapy, Paclitaxel, and Carboplatin in Treating Patients With Uterine Cancer Unknown status NCT01367301 Not Applicable paclitaxel;carboplatin
41 Suitability of DCE-MRI for Detection of Vascular Changes After VBT Completed NCT01991808 Not Applicable
42 Lymph Node Counts in Endometrial Cancer Staging Completed NCT02335775
43 Web-Based Coping and Communication Skills Intervention in Improving Psychological Adaptation in Patients With Gynecological Cancer Withdrawn NCT03902379 Not Applicable

Search NIH Clinical Center for Uterine Carcinosarcoma

Genetic Tests for Uterine Carcinosarcoma

Anatomical Context for Uterine Carcinosarcoma

MalaCards organs/tissues related to Uterine Carcinosarcoma:

42
Uterus, Ovary, Colon, Brain, Thyroid, Lymph Node, Endothelial

Publications for Uterine Carcinosarcoma

Articles related to Uterine Carcinosarcoma:

(showing 202, show less)
# Title Authors Year
1
Uterine carcinosarcoma: a primer for radiologists. ( 31030248 )
2019
2
Molecular classification and subtype-specific drug sensitivity research of uterine carcinosarcoma under multi-omics framework. ( 30359167 )
2019
3
Prognostic factors impacting survival in early stage uterine carcinosarcoma. ( 30414738 )
2019
4
Immunohistochemical analysis of the epithelial to mesenchymal transition in uterine carcinosarcoma. ( 30636710 )
2019
5
Cytological features of uterine carcinosarcoma: A retrospective study of 20 cases with an emphasis on the usefulness of endometrial cytology. ( 30706679 )
2019
6
Effect of Adjuvant Therapy on Oncologic Outcomes of Surgically Approved Stage I Uterine Carcinosarcoma: Turkish Gynecologic Oncology Study ( 30873825 )
2019
7
Significance of venous thromboembolism in women with uterine carcinosarcoma. ( 29248197 )
2018
8
Prognostic Significance of omental Disease and the Role of Omental Sampling in Patients With Uterine Carcinosarcoma. ( 29303931 )
2018
9
Tumor Mutational Burden Guides Therapy in a Treatment Refractory POLE-Mutant Uterine Carcinosarcoma. ( 29386312 )
2018
10
Trends of uterine carcinosarcoma in the United States. ( 29400015 )
2018
11
Diagnostic accuracy of 3.0T diffusion-weighted MRI for patients with uterine carcinosarcoma: Assessment of tumor extent and lymphatic metastasis. ( 29437265 )
2018
12
Insulin-like growth factor 2: a poor prognostic biomarker linked to racial disparity in women with uterine carcinosarcoma. ( 29455465 )
2018
13
The Association of an Elevated Thrombocyte Count with Clinicopathological Prognostic Factors and Survival in Patients with Uterine Carcinosarcoma. ( 29629727 )
2018
14
Fluorodeoxyglucose Positron Emission Tomography-computed Tomography Evaluation of an Interesting Case of Uterine Carcinosarcoma with Isolated Appendicular Skeletal Metastases. ( 29643680 )
2018
15
Lymphadenectomy and Adjuvant Therapy Improve Survival with Uterine Carcinosarcoma: A Large Retrospective Cohort Study. ( 29791913 )
2018
16
Significance of Lymphovascular Space Invasion by the Sarcomatous Component in Uterine Carcinosarcoma. ( 29971677 )
2018
17
Uterine Carcinosarcoma with Alpha-Fetoprotein-Producing Hepatoid Component: A Case Report and Literature Review. ( 29992073 )
2018
18
A Case of Uterine Carcinosarcoma Detected Simultaneously with Breast and Colon Cancer (Triple Primary Malignant Tumor). ( 30057538 )
2018
19
Proposal for a Risk-Based Categorization of Uterine Carcinosarcoma. ( 30105438 )
2018
20
L1CAM expression in uterine carcinosarcoma is limited to the epithelial component and may be involved in epithelial-mesenchymal transition. ( 30140948 )
2018
21
Clinical utility of CA-125 in the management of uterine carcinosarcoma. ( 30207096 )
2018
22
Characterizing sarcoma dominance pattern in uterine carcinosarcoma: Homologous versus heterologous element. ( 30217299 )
2018
23
Radiation-Induced Uterine Carcinosarcoma after Concurrent Chemoradiotherapy for Cervical Squamous Cell Carcinoma. ( 30308682 )
2018
24
Uterine carcinosarcoma (malignant mixed Müllerian tumor): case report in a goat and literature review. ( 30345891 )
2018
25
Ultrasonographic Findings of Uterine Carcinosarcoma. ( 30504724 )
2018
26
Diagnostic Value of 18F-FDG PET/CT and MRI in the Preoperative Evaluation of Uterine Carcinosarcoma. ( 30538776 )
2018
27
Chemoradiation Versus Chemotherapy in Uterine Carcinosarcoma: Patterns of Care and Impact on Overall Survival. ( 28121642 )
2018
28
Patterns of Adjuvant Therapy Utilization in Uterine Carcinosarcoma Stages I to III: A National Cancer Database Analysis. ( 28654573 )
2018
29
Prognostic factors for disease-free and overall survival of patients with uterine carcinosarcoma. ( 28836024 )
2018
30
Role of Radiation Therapy in the Multidisciplinary Management of Uterine Carcinosarcoma. ( 28930812 )
2018
31
Survival outcome of women with stage IV uterine carcinosarcoma who received neoadjuvant chemotherapy followed by surgery. ( 29044542 )
2018
32
Impact of radiotherapy modalities on outcomes in the adjuvant management of uterine carcinosarcoma: A National Cancer Database analysis. ( 29097136 )
2018
33
Expression of aurora kinases: Predictor of tumor dissemination in uterine carcinosarcoma. ( 27779297 )
2017
34
Comprehensive Staging of Uterine Carcinosarcoma Using a Multiquadrant Robotic Platform. ( 27794476 )
2017
35
Establishment and characterization of a novel uterine carcinosarcoma cell line, TU-ECS-1, with mutations of TP53 and KRAS. ( 27889902 )
2017
36
Tumor characteristics and survival outcomes of women with tamoxifen-related uterine carcinosarcoma. ( 27931750 )
2017
37
Whole-Genome DNA Methylation Profiling Identifies Epigenetic Signatures of Uterine Carcinosarcoma. ( 28088687 )
2017
38
Identification of distinct molecular subtypes of uterine carcinosarcoma. ( 28178664 )
2017
39
Functional role of ALK-related signal cascades on modulation of epithelial-mesenchymal transition and apoptosis in uterine carcinosarcoma. ( 28193280 )
2017
40
Impact of adjuvant therapy on recurrence patterns in stage I uterine carcinosarcoma. ( 28215838 )
2017
41
Integrated Molecular Characterization of Uterine Carcinosarcoma. ( 28292439 )
2017
42
Stage I uterine carcinosarcoma: Matched cohort analyses for lymphadenectomy, chemotherapy, and brachytherapy. ( 28317560 )
2017
43
Durable complete remission with aromatase inhibitor therapy in a patient with metastatic uterine carcinosarcoma with poor performance status and coagulation disorders: a case report. ( 28424084 )
2017
44
Prognostic value of metabolic parameters determined by preoperative ¹⁸F-FDG PET/CT in patients with uterine carcinosarcoma. ( 28541634 )
2017
45
Use of Adjuvant Chemotherapy, Radiation Therapy, or Combined Modality Therapy and the Impact on Survival for Uterine Carcinosarcoma Limited to the Pelvis. ( 28574930 )
2017
46
A predictive diagnostic model using multiparametric MRI for differentiating uterine carcinosarcoma from carcinoma of the uterine corpus. ( 28584958 )
2017
47
Unenhanced region on magnetic resonance imaging represents tumor progression in uterine carcinosarcoma. ( 28657223 )
2017
48
Fascin Is Associated With Aggressive Behavior and Poor Outcome in Uterine Carcinosarcoma. ( 28704324 )
2017
49
Secondary uterine carcinosarcoma after concurrent chemoradiotherapy for cervical cancer: Case reports. ( 28761924 )
2017
50
Port-Site Metastasis of Uterine Carcinosarcoma after Laparoscopy. ( 28960047 )
2017
51
Salvage chemotherapy with taxane and platinum for women with recurrent uterine carcinosarcoma. ( 29056442 )
2017
52
Uterine carcinosarcoma including angiosarcoma: A short case report. ( 27592347 )
2016
53
Adjuvant radiation therapy in uterine carcinosarcoma: A population-based analysis of patient demographic and clinical characteristics, patterns of care and outcomes. ( 26896827 )
2016
54
Clinical Characteristics, Surgical Management and Adjuvant Therapy of Patients with Uterine Carcinosarcoma: A Retrospective Case Series. ( 26941453 )
2016
55
Genetic Investigation of Uterine Carcinosarcoma: Case Report and Cohort Analysis. ( 27009459 )
2016
56
Significance of histologic pattern of carcinoma and sarcoma components on survival outcomes of uterine carcinosarcoma. ( 27052653 )
2016
57
Optimal cytoreductive surgery in patients with advanced uterine carcinosarcoma: A multi-institutional retrospective study from the Japanese gynecologic oncology group. ( 27072806 )
2016
58
RNA-seq Identification of RACGAP1 as a Metastatic Driver in Uterine Carcinosarcoma. ( 27121792 )
2016
59
Efficacy and tolerability of combination cisplatin and ifosfamide chemotherapy with vaginal cuff brachytherapy in the first line treatment of uterine carcinosarcoma. ( 27172745 )
2016
60
Outcome and Predictive Factors in Uterine Carcinosarcoma Using Postoperative Radiotherapy: A Rare Cancer Network Study. ( 27441069 )
2016
61
Clinical significance of radiotherapy in patients with primary uterine carcinosarcoma: a multicenter retrospective study (KROG 13-08). ( 27550404 )
2016
62
Prognostic impact of primary tumor SUVmax on preoperative 18F-fluoro-2-deoxy-D-glucose positron emission tomography and computed tomography in endometrial cancer and uterine carcinosarcoma. ( 27703679 )
2016
63
Survival of Patients with Uterine Carcinosarcoma Undergoing Sentinel Lymph Node Mapping. ( 25994210 )
2016
64
Prognostic factors in patients with uterine carcinosarcoma: a multi-institutional retrospective study from the Japanese Gynecologic Oncology Group. ( 26084780 )
2016
65
Clinicopathological characteristics, treatment and outcomes in uterine carcinosarcoma and grade 3 endometrial cancer patients: a comparative study. ( 26463439 )
2016
66
The Impact of Adjuvant Therapy on Survival and Recurrence Patterns in Women With Early-Stage Uterine Carcinosarcoma: A Multi-institutional Study. ( 26509850 )
2016
67
Utility of histogram analysis of apparent diffusion coefficient maps obtained using 3.0T MRI for distinguishing uterine carcinosarcoma from endometrial carcinoma. ( 26605502 )
2016
68
Unusual Cutaneous Metastasis of Uterine Carcinosarcoma: A Case Report and Review of the Literature. ( 26675357 )
2016
69
Comparison of MRI and 18F-FDG PET/CT in the preoperative evaluation of uterine carcinosarcoma. ( 26777990 )
2016
70
Cooperation of Sox4 with β-catenin/p300 complex in transcriptional regulation of the Slug gene during divergent sarcomatous differentiation in uterine carcinosarcoma. ( 26841870 )
2016
71
Prognostic value of total lesion glycolysis on preoperative 18F-FDG PET/CT in patients with uterine carcinosarcoma. ( 26883331 )
2016
72
Clinical outcomes of uterine carcinosarcoma: results of 94 patients. ( 25611900 )
2015
73
Uterine carcinosarcoma and high-risk endometrial carcinomas: a clinicopathological comparison. ( 25633654 )
2015
74
Uterine carcinosarcoma: A review of the literature. ( 25805398 )
2015
75
Role of TGF-β signaling in uterine carcinosarcoma. ( 25918253 )
2015
76
Azaspirene analogs inhibit the growth of human uterine carcinosarcoma in vitro and in vivo. ( 25964553 )
2015
77
Evaluation of brachytherapy and external beam radiation therapy for early stage, node-negative uterine carcinosarcoma. ( 26166579 )
2015
78
The Effect of Cyclooxygenase-2 Expression in Uterine Carcinosarcoma on Survival: A Reassessment Based on Mature Data. ( 26222488 )
2015
79
Chemotherapy for Uterine Carcinosarcoma with Carboplatin, Ifosfamide and Mesna. ( 26254376 )
2015
80
Patterns of care, predictors and outcomes of chemotherapy for uterine carcinosarcoma: a National Cancer Database analysis. ( 26307402 )
2015
81
URI1 amplification in uterine carcinosarcoma associates with chemo-resistance and poor prognosis. ( 26328264 )
2015
82
A multi-institutional study of outcomes in stage I-III uterine carcinosarcoma. ( 26348313 )
2015
83
Review of Recommended Treatment of Uterine Carcinosarcoma. ( 26374341 )
2015
84
Uterine carcinosarcoma/malignant mixed Müllerian tumor incidence is increased in women with breast cancer, but independent of hormone therapy. ( 26404129 )
2015
85
Extent of lymph node dissection and overall survival in patients with uterine carcinosarcoma, papillary serous and endometrioid adenocarcinoma: A retrospective cohort study. ( 26476418 )
2015
86
Clinically aggressive "low-grade" uterine carcinosarcoma: A case report. ( 26793763 )
2015
87
Evaluation of postoperative chemotherapy in patients with uterine carcinosarcoma: a retrospective survey of the Tohoku Gynecologic Cancer Unit. ( 25030547 )
2015
88
Review literature on uterine carcinosarcoma. ( 25313723 )
2014
89
Case report of uterine carcinosarcoma with incisional site recurrence. ( 25404826 )
2014
90
Metastatic calcaneal lesion associated with uterine carcinosarcoma. ( 23871174 )
2014
91
Prognostic factors and status of hormone receptors and angiogenic factors in uterine carcinosarcoma. ( 24320058 )
2014
92
AlloDerm graft mimicking uterine carcinosarcoma recurrence on PET/CT. ( 24359070 )
2014
93
Patterns of care, predictors, and outcomes of chemotherapy in elderly women with early-stage uterine carcinosarcoma: a population-based analysis. ( 24561247 )
2014
94
Black race independently predicts worse survival in uterine carcinosarcoma. ( 24613675 )
2014
95
Pathologic prognostic factors in stage I-III uterine carcinosarcoma treated with postoperative radiotherapy. ( 24633893 )
2014
96
Retrospective analysis of 80 cases with uterine carcinosarcoma, leiomyosarcoma and endometrial stromal sarcoma in China, 1988-2007. ( 24817958 )
2014
97
Co-existence of primary fallopian tube carcinoma and uterine carcinosarcoma. ( 24912001 )
2014
98
Carboplatin-Paclitaxel versus Cisplatin-Ifosfamide in the treatment of uterine carcinosarcoma: a retrospective cohort study. ( 25078338 )
2014
99
Molecular alterations of PIK3CA in uterine carcinosarcoma, clear cell, and serous tumors. ( 25078343 )
2014
100
Comparison of outcomes in early stage uterine carcinosarcoma and uterine serous carcinoma. ( 25084509 )
2014
101
Synchronous uterine carcinosarcoma and contralateral breast cancer after tamoxifen therapy: a case report. ( 25197413 )
2014
102
Adjuvant radiotherapy and/or chemotherapy after surgery for uterine carcinosarcoma. ( 23450572 )
2013
103
Uterine carcinosarcoma in a patient with didelphys uterus. ( 23533863 )
2013
104
Is there an increase in the incidence of uterine carcinosarcoma in north-east Scotland? A 19 years population-based cohort study. ( 23728753 )
2013
105
The reasonable timing of the adjuvant radiotherapy in the treatment of uterine carcinosarcoma according to the surgical intent: suggestion based on progression patterns. ( 23865003 )
2013
106
AKT, EGFR, C-ErbB-2, and C-kit expression in uterine carcinosarcoma. ( 23896716 )
2013
107
TGFβ-pathway is down-regulated in a uterine carcinosarcoma: a case study. ( 23932095 )
2013
108
Impact of multimodal therapy on the survival of patients with newly diagnosed uterine carcinosarcoma. ( 24020131 )
2013
109
Treatment outcomes in completely resected stage I to stage IV uterine carcinosarcoma with rhabdomyosarcoma differentiation. ( 24172099 )
2013
110
Wilms' tumor 1 protein and estrogen receptor beta expression are associated with poor outcomes in uterine carcinosarcoma. ( 23344579 )
2013
111
Expression of steroid and xenobiotic receptor in uterine carcinosarcoma, leiomyosarcoma and endometrial stromal sarcoma. ( 23443531 )
2013
112
Phase II trial of adjuvant pelvic radiation "sandwiched" between ifosfamide or ifosfamide plus cisplatin in women with uterine carcinosarcoma. ( 22055846 )
2012
113
Uterine carcinosarcoma with scalp metastasis; a rare presentation. ( 22214642 )
2012
114
Prognostic impact of the history of breast cancer and of hormone therapy in uterine carcinosarcoma. ( 22228427 )
2012
115
Prognostic value of alternative lengthening of telomeres-associated biomarkers in uterine sarcoma and uterine carcinosarcoma. ( 22266933 )
2012
116
Uterine carcinosarcoma associated with pelvic radiotherapy for sacral chordoma: a case report. ( 22482976 )
2012
117
Iniparib plus paclitaxel and carboplatin as initial treatment of advanced or recurrent uterine carcinosarcoma: a Gynecologic Oncology Group Study. ( 22634397 )
2012
118
A multi-institutional cohort study of adjuvant therapy in stage I-II uterine carcinosarcoma. ( 22727985 )
2012
119
A phase II trial of thalidomide in patients with refractory uterine carcinosarcoma and correlation with biomarkers of angiogenesis: a Gynecologic Oncology Group study. ( 22796461 )
2012
120
Global dysregulation of the chromosome 14q32 imprinted region in uterine carcinosarcoma. ( 22969950 )
2012
121
Metronomic doxifluridine chemotherapy combined with the anti-angiogenic agent TNP-470 inhibits the growth of human uterine carcinosarcoma xenografts. ( 21631643 )
2011
122
Stage III uterine carcinosarcoma: 2009 International Federation of Gynecology and Obstetrics Staging System and Prognostic Determinants. ( 21720252 )
2011
123
Uterine carcinosarcoma. ( 21743326 )
2011
124
CD133+ cancer stem cell-like cells derived from uterine carcinosarcoma (malignant mixed Müllerian tumor). ( 21919130 )
2011
125
The role of cytoreductive surgery for newly diagnosed advanced-stage uterine carcinosarcoma. ( 21945551 )
2011
126
Uterine carcinosarcoma with p53-positive intraepithelial component. ( 22026369 )
2011
127
An update on the management of uterine carcinosarcoma. ( 22186602 )
2011
128
Long-term recurrence-free survival in a patient with stage IVB uterine carcinosarcoma. ( 22247807 )
2011
129
Uterine Carcinosarcoma in a 2-year-old Female Wistar Hannover GALAS Rat. ( 22272045 )
2011
130
The influence of adjuvant radiotherapy on patterns of failure and survivals in uterine carcinosarcoma. ( 22984675 )
2011
131
Expression and localization of E-cadherin and β-catenin in uterine carcinosarcoma. ( 21046151 )
2011
132
Immunohistochemical studies on uterine carcinosarcoma, leiomyosarcoma, and endometrial stromal sarcoma: expression and prognostic importance of ten different markers. ( 21161468 )
2011
133
Adjuvant radiotherapy and/or chemotherapy after surgery for uterine carcinosarcoma. ( 21249682 )
2011
134
A phase II trial of paclitaxel and carboplatin in women with advanced or recurrent uterine carcinosarcoma. ( 21436700 )
2011
135
Uterine carcinosarcoma. ( 21508698 )
2011
136
Prediction of Chemotherapy Response With Platinum and Taxane in the Advanced Stage of Ovarian and Uterine Carcinosarcoma: A Clinical Implication of In vitro Drug Resistance Assay. ( 19875949 )
2010
137
COX-2 expression in uterine carcinosarcoma. ( 19900134 )
2010
138
Co-expression of GPR30 and ERbeta and their association with disease progression in uterine carcinosarcoma. ( 20605134 )
2010
139
Patterns of failure for conservatively managed surgical stage I uterine carcinosarcoma: implications for adjuvant therapy. ( 19574779 )
2009
140
Polypoid or non-polypoid? A novel dichotomous approach to uterine carcinosarcoma. ( 19640575 )
2009
141
Malignant pericardial effusion and cardiac tamponade originating from uterine carcinosarcoma. ( 18548260 )
2009
142
Uterine carcinosarcoma metastatic to the lung as large-cell neuroendocrine carcinoma with synchronous sarcoid granulomatosis. ( 19111933 )
2009
143
Tissue microarray analysis of hormonal signaling pathways in uterine carcinosarcoma. ( 19200930 )
2009
144
Evaluation of prognostic factors and treatment outcomes in uterine carcinosarcoma. ( 19201517 )
2009
145
Pheophorbide a based photodynamic therapy induces apoptosis via mitochondrial-mediated pathway in human uterine carcinosarcoma. ( 19276676 )
2009
146
Inflammatory myofibroblastic tumour of the urinary bladder mimicking recurrent uterine carcinosarcoma. ( 19309402 )
2009
147
Requirement of the Akt/beta-catenin pathway for uterine carcinosarcoma genesis, modulating E-cadherin expression through the transactivation of slug. ( 19389926 )
2009
148
[Investigation of biological features of uterine carcinosarcoma]. ( 20210020 )
2009
149
[Tamoxifen in the adjuvant setting for breast cancer: Reflexions about the risk of uterine carcinosarcoma]. ( 19394886 )
2009
150
18F-fluorodeoxyglucose positron emission tomography in uterine carcinosarcoma. ( 17952435 )
2008
151
Uterine carcinosarcoma in a patient with hereditary non-polyposis coli. ( 18065215 )
2008
152
The impact of adjuvant radiation therapy on survival in women with uterine carcinosarcoma. ( 18160157 )
2008
153
Immunohistochemical analysis of carcinomatous and sarcomatous components in the uterine carcinosarcoma: a case report. ( 18207653 )
2008
154
Characterization of a newly established uterine carcinosarcoma cell line featuring the sarcomatous phenotype of the tumor in vitro. ( 18334012 )
2008
155
Assessing the effects of lymphadenectomy and radiation therapy in patients with uterine carcinosarcoma: a SEER analysis. ( 18674808 )
2008
156
A retrospective assessment of outcomes of chemotherapy-based versus radiation-only adjuvant treatment for completely resected stage I-IV uterine carcinosarcoma. ( 18755503 )
2008
157
Prognostic factors and adjuvant therapy in uterine carcinosarcoma. ( 19051818 )
2008
158
Occult metastatic lung carcinoma presenting as locally advanced uterine carcinosarcoma on positron emission tomography/computed tomography imaging. ( 17504386 )
2007
159
Uterine carcinosarcoma associated with hereditary nonpolyposis colorectal cancer. ( 17666659 )
2007
160
Serum CA125 predicts extrauterine disease and survival in uterine carcinosarcoma. ( 17935762 )
2007
161
Prognostic features of surgical stage I uterine carcinosarcoma. ( 18059221 )
2007
162
The uterine carcinosarcoma - a case report. ( 18060197 )
2007
163
Uterine carcinosarcoma: immunohistochemical studies on tissue microarrays with focus on potential therapeutic targets. ( 17175012 )
2007
164
Phase III trial of ifosfamide with or without paclitaxel in advanced uterine carcinosarcoma: a Gynecologic Oncology Group Study. ( 17290061 )
2007
165
Uterine carcinosarcoma arising from an endometrial polyp: assessment by 3-dimensional power Doppler angiography and positron emission tomography/computed tomography. ( 16632794 )
2006
166
DNA mismatch repair and TP53 defects are early events in uterine carcinosarcoma tumorigenesis. ( 16810312 )
2006
167
Expression of c-kit in uterine carcinosarcoma. ( 15589603 )
2005
168
A comparison between different postoperative treatment modalities of uterine carcinosarcoma. ( 15790453 )
2005
169
HER-2/neu oncogene in uterine carcinosarcoma on tamoxifen therapy. ( 15901136 )
2005
170
Differential diagnosis between uterine carcinosarcoma versus carcinoma with sarcomatous metaplasia: an immunohistochemical and ultrastructural case study. ( 16028671 )
2005
171
Localization of the VEGF and angiopoietin genes in uterine carcinosarcoma. ( 15581949 )
2004
172
Histogenesis of carcinosarcoma and establishment of leiomyosarcoma cell line (HTMMT) derived from human uterine carcinosarcoma. ( 15859158 )
2004
173
Importance of the endometrioid carcinoma subtype and sarcomatous component in uterine carcinosarcoma. ( 15047252 )
2004
174
Expression of p27 and p53: comparative analysis of uterine carcinosarcoma and endometrial carcinoma. ( 15086737 )
2004
175
An abnormal cervicovaginal cytology smear in uterine carcinosarcoma is an adverse prognostic sign: analysis of 25 cases. ( 15362375 )
2004
176
Uterine carcinosarcoma with complete sarcomatous overgrowth mimicking pure embryonal rhabdomyosarcoma. ( 12496704 )
2003
177
Cure of metastatic uterine carcinosarcoma to lungs: a case report. ( 12631227 )
2003
178
Effect of angiogenesis inhibitor TNP-470 on the growth, blood flow, and microvessel density in xenografts of human uterine carcinosarcoma in nude mice. ( 12694659 )
2003
179
Different expression patterns of KIT, EGFR, and HER-2 (c-erbB-2) oncoproteins between epithelial and mesenchymal components in uterine carcinosarcoma. ( 14611676 )
2003
180
[Uterine carcinosarcoma related to tamoxifen]. ( 14675359 )
2003
181
Unsuspected uterine carcinosarcoma (heterologous) diagnosed following conservative therapies with medroxyprogesterone acetate for presumed early-stage endometrial carcinoma. ( 12069197 )
2002
182
Uterine adenosarcoma with sarcomatous overgrowth versus uterine carcinosarcoma: comparison of treatment and survival. ( 11585418 )
2001
183
Adjuvant pelvic radiotherapy for uterine carcinosarcoma in a high risk population. ( 11373106 )
2001
184
Uterine carcinosarcoma with melanocytic differentiation. ( 11293166 )
2001
185
TNP-470 inhibits growth and the production of vascular endothelial growth factor of uterine carcinosarcoma cells in vitro. ( 10769702 )
2000
186
Diagnosis of recurrent uterine carcinosarcoma by fine-needle aspiration cytology: report of a case. ( 10888756 )
2000
187
Long-term tamoxifen treatment: a possible aetiological factor in the development of uterine carcinosarcoma: two case-reports and review of the literature. ( 10928144 )
2000
188
Differential expression of matrix metalloprotease-7 in each component of uterine carcinosarcoma. ( 11032915 )
2000
189
Markers of apoptosis and angiogenesis indicate that carcinomatous components play an important role in the malignant behavior of uterine carcinosarcoma. ( 11150369 )
2000
190
Combined diagnostic imaging of uterine carcinosarcoma: A case report. ( 11240709 )
2000
191
Neovascularization of uterine carcinosarcoma: report of two cases analyzed by color Doppler ultrasonography and microvessel density. ( 10206221 )
1999
192
Trousseau's syndrome with brachiocephalic vein thrombosis in a patient with uterine carcinosarcoma. A case report. ( 10378829 )
1999
193
Prognostic factors in uterine carcinosarcoma: a clinicopathologic study of 25 patients. ( 9452269 )
1998
194
Uterine carcinosarcoma in association with tamoxifen therapy. ( 9422027 )
1997
195
An evaluation of prognostic factors in uterine carcinosarcoma. ( 9441781 )
1997
196
The role of whole-pelvic irradiation in the treatment of early-stage uterine carcinosarcoma. ( 9190981 )
1997
197
Uterine carcinosarcoma in association with tamoxifen therapy. ( 9197885 )
1997
198
Uterine carcinosarcoma is derived from a single stem cell: an in vitro study. ( 9311600 )
1997
199
Tissue polypeptide antigen production in a uterine carcinosarcoma cell line in a serum-free culture. ( 8774655 )
1996
200
Uterine carcinosarcoma. Case report. ( 2627972 )
1989
201
Histogenesis and culture of human uterine carcinosarcoma. ( 7194144 )
1981
202
Regression of metastatic uterine carcinosarcoma. Following cyclophosphamide chemotherapy. ( 4510802 )
1973

Variations for Uterine Carcinosarcoma

ClinVar genetic disease variations for Uterine Carcinosarcoma:

6 (showing 350, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PTEN NM_000314.4(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
2 PTEN NM_000314.4(PTEN): c.389G> A (p.Arg130Gln) single nucleotide variant Pathogenic rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
3 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh37 Chromosome 17, 7577539: 7577539
4 TP53 NM_000546.5(TP53): c.742C> T (p.Arg248Trp) single nucleotide variant Pathogenic rs121912651 GRCh38 Chromosome 17, 7674221: 7674221
5 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
6 TP53 NM_000546.5(TP53): c.733G> T (p.Gly245Cys) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
7 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh37 Chromosome 17, 7577556: 7577556
8 TP53 NM_000546.5(TP53): c.725G> A (p.Cys242Tyr) single nucleotide variant Pathogenic rs121912655 GRCh38 Chromosome 17, 7674238: 7674238
9 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
10 TP53 NM_000546.5(TP53): c.734G> A (p.Gly245Asp) single nucleotide variant Pathogenic rs121912656 GRCh38 Chromosome 17, 7674229: 7674229
11 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
12 TP53 NM_000546.5(TP53): c.743G> A (p.Arg248Gln) single nucleotide variant Pathogenic/Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
13 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
14 TP53 NM_000546.5(TP53): c.722C> T (p.Ser241Phe) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
15 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh37 Chromosome 17, 7577548: 7577548
16 TP53 NM_000546.5(TP53): c.733G> A (p.Gly245Ser) single nucleotide variant Pathogenic rs28934575 GRCh38 Chromosome 17, 7674230: 7674230
17 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
18 TP53 NM_000546.5(TP53): c.818G> A (p.Arg273His) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
19 TP53 NM_000546.5(TP53): c.839G> C (p.Arg280Thr) single nucleotide variant Uncertain significance rs121912660 GRCh37 Chromosome 17, 7577099: 7577099
20 TP53 NM_000546.5(TP53): c.839G> C (p.Arg280Thr) single nucleotide variant Uncertain significance rs121912660 GRCh38 Chromosome 17, 7673781: 7673781
21 TP53 NM_000546.5(TP53): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
22 TP53 NM_000546.5(TP53): c.451C> A (p.Pro151Thr) single nucleotide variant Likely pathogenic rs28934874 GRCh38 Chromosome 17, 7675161: 7675161
23 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh37 Chromosome 17, 7578479: 7578479
24 TP53 NM_000546.5(TP53): c.451C> T (p.Pro151Ser) single nucleotide variant Pathogenic/Likely pathogenic rs28934874 GRCh38 Chromosome 17, 7675161: 7675161
25 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
26 TP53 NM_000546.5(TP53): c.659A> C (p.Tyr220Ser) single nucleotide variant Pathogenic rs121912666 GRCh38 Chromosome 17, 7674872: 7674872
27 HRAS NM_176795.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
28 HRAS NM_176795.4(HRAS): c.34G> A (p.Gly12Ser) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
29 HRAS NM_005343.2(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh37 Chromosome 11, 534288: 534288
30 HRAS NM_005343.2(HRAS): c.35G> C (p.Gly12Ala) single nucleotide variant Pathogenic rs104894230 GRCh38 Chromosome 11, 534288: 534288
31 HRAS NM_005343.2(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh37 Chromosome 11, 534289: 534289
32 HRAS NM_005343.2(HRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic rs104894229 GRCh38 Chromosome 11, 534289: 534289
33 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh37 Chromosome 10, 123279677: 123279677
34 FGFR2 NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 GRCh38 Chromosome 10, 121520163: 121520163
35 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
36 PIK3CA NM_006218.4(PIK3CA): c.3140A> G (p.His1047Arg) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
37 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh37 Chromosome 3, 178952085: 178952085
38 PIK3CA NM_006218.3(PIK3CA): c.3140A> T (p.His1047Leu) single nucleotide variant Pathogenic rs121913279 GRCh38 Chromosome 3, 179234297: 179234297
39 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
40 PIK3CA NM_006218.3(PIK3CA): c.1636C> G (p.Gln546Glu) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
41 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
42 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 GRCh38 Chromosome 3, 179218303: 179218303
43 PIK3CA NM_006218.3(PIK3CA): c.1633G> A (p.Glu545Lys) single nucleotide variant Pathogenic/Likely pathogenic rs104886003 NCBI36 Chromosome 3, 180418785: 180418785
44 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
45 PIK3CA NM_006218.3(PIK3CA): c.1634A> G (p.Glu545Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
46 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh37 Chromosome 3, 178936094: 178936094
47 PIK3CA NM_006218.3(PIK3CA): c.1636C> A (p.Gln546Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913286 GRCh38 Chromosome 3, 179218306: 179218306
48 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 GRCh37 Chromosome 3, 178936092: 178936092
49 PIK3CA NM_006218.3(PIK3CA): c.1634A> C (p.Glu545Ala) single nucleotide variant Pathogenic rs121913274 GRCh38 Chromosome 3, 179218304: 179218304
50 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh37 Chromosome 3, 178952084: 178952084
51 PIK3CA NM_006218.3(PIK3CA): c.3139C> T (p.His1047Tyr) single nucleotide variant Pathogenic rs121913281 GRCh38 Chromosome 3, 179234296: 179234296
52 PIK3CA NM_006218.3(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
53 PIK3CA NM_006218.3(PIK3CA): c.1637A> G (p.Gln546Arg) single nucleotide variant Pathogenic rs397517201 GRCh38 Chromosome 3, 179218307: 179218307
54 FBXW7 NM_033632.3(FBXW7): c.1513C> T (p.Arg505Cys) single nucleotide variant Likely pathogenic rs149680468 GRCh37 Chromosome 4, 153247289: 153247289
55 FBXW7 NM_033632.3(FBXW7): c.1513C> T (p.Arg505Cys) single nucleotide variant Likely pathogenic rs149680468 GRCh38 Chromosome 4, 152326137: 152326137
56 FBXW7 NM_033632.3(FBXW7): c.1513C> T (p.Arg505Cys) single nucleotide variant Likely pathogenic rs149680468 NCBI36 Chromosome 4, 153466739: 153466739
57 TP53 NM_000546.5(TP53): c.488A> G (p.Tyr163Cys) single nucleotide variant Pathogenic rs148924904 GRCh37 Chromosome 17, 7578442: 7578442
58 TP53 NM_000546.5(TP53): c.488A> G (p.Tyr163Cys) single nucleotide variant Pathogenic rs148924904 GRCh38 Chromosome 17, 7675124: 7675124
59 TP53 NM_000546.5(TP53): c.535C> T (p.His179Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587780070 GRCh37 Chromosome 17, 7578395: 7578395
60 TP53 NM_000546.5(TP53): c.535C> T (p.His179Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs587780070 GRCh38 Chromosome 17, 7675077: 7675077
61 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic rs121912666 GRCh37 Chromosome 17, 7578190: 7578190
62 TP53 NM_000546.5(TP53): c.659A> G (p.Tyr220Cys) single nucleotide variant Pathogenic rs121912666 GRCh38 Chromosome 17, 7674872: 7674872
63 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic rs587778720 GRCh37 Chromosome 17, 7578211: 7578211
64 TP53 NM_000546.5(TP53): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic rs587778720 GRCh38 Chromosome 17, 7674893: 7674893
65 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 GRCh37 Chromosome 17, 7577096: 7577096
66 TP53 NM_000546.5(TP53): c.842A> G (p.Asp281Gly) single nucleotide variant Pathogenic rs587781525 GRCh38 Chromosome 17, 7673778: 7673778
67 TP53 NM_000546.5(TP53): c.745A> T (p.Arg249Trp) single nucleotide variant Uncertain significance rs587782082 GRCh37 Chromosome 17, 7577536: 7577536
68 TP53 NM_000546.5(TP53): c.745A> T (p.Arg249Trp) single nucleotide variant Uncertain significance rs587782082 GRCh38 Chromosome 17, 7674218: 7674218
69 PTEN NM_000314.6(PTEN): c.389G> C (p.Arg130Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121909229 GRCh37 Chromosome 10, 89692905: 89692905
70 PTEN NM_000314.6(PTEN): c.389G> C (p.Arg130Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs121909229 GRCh38 Chromosome 10, 87933148: 87933148
71 TP53 NM_000546.5(TP53): c.746G> A (p.Arg249Lys) single nucleotide variant Uncertain significance rs587782329 GRCh37 Chromosome 17, 7577535: 7577535
72 TP53 NM_000546.5(TP53): c.746G> A (p.Arg249Lys) single nucleotide variant Uncertain significance rs587782329 GRCh38 Chromosome 17, 7674217: 7674217
73 TP53 NM_001126115.1(TP53): c.443G> T (p.Arg148Ile) single nucleotide variant Uncertain significance rs121912660 GRCh38 Chromosome 17, 7673781: 7673781
74 TP53 NM_001126115.1(TP53): c.443G> T (p.Arg148Ile) single nucleotide variant Uncertain significance rs121912660 GRCh37 Chromosome 17, 7577099: 7577099
75 TP53 NM_001126115.1(TP53): c.401G> A (p.Gly134Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs193920774 GRCh38 Chromosome 17, 7673823: 7673823
76 TP53 NM_001126115.1(TP53): c.401G> A (p.Gly134Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs193920774 GRCh37 Chromosome 17, 7577141: 7577141
77 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh38 Chromosome 17, 7674241: 7674241
78 TP53 NM_000546.5(TP53): c.722C> G (p.Ser241Cys) single nucleotide variant Likely pathogenic rs28934573 GRCh37 Chromosome 17, 7577559: 7577559
79 TP53 NM_000546.5(TP53): c.842A> T (p.Asp281Val) single nucleotide variant Pathogenic/Likely pathogenic rs587781525 GRCh38 Chromosome 17, 7673778: 7673778
80 TP53 NM_000546.5(TP53): c.842A> T (p.Asp281Val) single nucleotide variant Pathogenic/Likely pathogenic rs587781525 GRCh37 Chromosome 17, 7577096: 7577096
81 TP53 NM_000546.5(TP53): c.713G> A (p.Cys238Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs730882005 GRCh38 Chromosome 17, 7674250: 7674250
82 TP53 NM_000546.5(TP53): c.713G> A (p.Cys238Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs730882005 GRCh37 Chromosome 17, 7577568: 7577568
83 TP53 NM_000546.5(TP53): c.646G> A (p.Val216Met) single nucleotide variant Conflicting interpretations of pathogenicity rs730882025 GRCh38 Chromosome 17, 7674885: 7674885
84 TP53 NM_000546.5(TP53): c.646G> A (p.Val216Met) single nucleotide variant Conflicting interpretations of pathogenicity rs730882025 GRCh37 Chromosome 17, 7578203: 7578203
85 TP53 NM_000546.5(TP53): c.578A> T (p.His193Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786201838 GRCh37 Chromosome 17, 7578271: 7578271
86 TP53 NM_000546.5(TP53): c.578A> T (p.His193Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs786201838 GRCh38 Chromosome 17, 7674953: 7674953
87 TP53 NM_000546.5(TP53): c.578A> G (p.His193Arg) single nucleotide variant Likely pathogenic rs786201838 GRCh37 Chromosome 17, 7578271: 7578271
88 TP53 NM_000546.5(TP53): c.578A> G (p.His193Arg) single nucleotide variant Likely pathogenic rs786201838 GRCh38 Chromosome 17, 7674953: 7674953
89 TP53 NM_000546.5(TP53): c.487T> G (p.Tyr163Asp) single nucleotide variant Likely pathogenic rs786203436 GRCh37 Chromosome 17, 7578443: 7578443
90 TP53 NM_000546.5(TP53): c.487T> G (p.Tyr163Asp) single nucleotide variant Likely pathogenic rs786203436 GRCh38 Chromosome 17, 7675125: 7675125
91 PPP2R1A NM_014225.5(PPP2R1A): c.536C> T (p.Pro179Leu) single nucleotide variant Pathogenic rs786205228 GRCh38 Chromosome 19, 52212718: 52212718
92 PPP2R1A NM_014225.5(PPP2R1A): c.536C> T (p.Pro179Leu) single nucleotide variant Pathogenic rs786205228 GRCh37 Chromosome 19, 52715971: 52715971
93 TP53 NM_000546.5(TP53): c.584T> C (p.Ile195Thr) single nucleotide variant Pathogenic rs760043106 GRCh38 Chromosome 17, 7674947: 7674947
94 TP53 NM_000546.5(TP53): c.584T> C (p.Ile195Thr) single nucleotide variant Pathogenic rs760043106 GRCh37 Chromosome 17, 7578265: 7578265
95 PIK3CA NM_006218.3(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 GRCh37 Chromosome 3, 178936093: 178936093
96 PIK3CA NM_006218.3(PIK3CA): c.1635G> T (p.Glu545Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121913275 GRCh38 Chromosome 3, 179218305: 179218305
97 TP53 NM_000546.5(TP53): c.818G> C (p.Arg273Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh37 Chromosome 17, 7577120: 7577120
98 TP53 NM_000546.5(TP53): c.818G> C (p.Arg273Pro) single nucleotide variant Pathogenic/Likely pathogenic rs28934576 GRCh38 Chromosome 17, 7673802: 7673802
99 TP53 NM_000546.5(TP53): c.797G> T (p.Gly266Val) single nucleotide variant Uncertain significance rs193920774 GRCh37 Chromosome 17, 7577141: 7577141
100 TP53 NM_000546.5(TP53): c.797G> T (p.Gly266Val) single nucleotide variant Uncertain significance rs193920774 GRCh38 Chromosome 17, 7673823: 7673823
101 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
102 TP53 NM_000546.5(TP53): c.743G> T (p.Arg248Leu) single nucleotide variant Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
103 TP53 NM_000546.5(TP53): c.715A> G (p.Asn239Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs876660807 GRCh37 Chromosome 17, 7577566: 7577566
104 TP53 NM_000546.5(TP53): c.715A> G (p.Asn239Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs876660807 GRCh38 Chromosome 17, 7674248: 7674248
105 TP53 NM_000546.5(TP53): c.638G> C (p.Arg213Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587778720 GRCh37 Chromosome 17, 7578211: 7578211
106 TP53 NM_000546.5(TP53): c.638G> C (p.Arg213Pro) single nucleotide variant Pathogenic/Likely pathogenic rs587778720 GRCh38 Chromosome 17, 7674893: 7674893
107 TP53 NM_000546.5(TP53): c.577C> T (p.His193Tyr) single nucleotide variant Likely pathogenic rs876658468 GRCh37 Chromosome 17, 7578272: 7578272
108 TP53 NM_000546.5(TP53): c.577C> T (p.His193Tyr) single nucleotide variant Likely pathogenic rs876658468 GRCh38 Chromosome 17, 7674954: 7674954
109 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh37 Chromosome 17, 7577538: 7577538
110 TP53 NM_000546.5(TP53): c.743G> C (p.Arg248Pro) single nucleotide variant Likely pathogenic rs11540652 GRCh38 Chromosome 17, 7674220: 7674220
111 TP53 NM_000546.5(TP53): c.523C> T (p.Arg175Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138729528 GRCh38 Chromosome 17, 7675089: 7675089
112 TP53 NM_000546.5(TP53): c.523C> T (p.Arg175Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138729528 GRCh37 Chromosome 17, 7578407: 7578407
113 TP53 NM_000546.5(TP53): c.734G> C (p.Gly245Ala) single nucleotide variant Likely pathogenic rs121912656 GRCh37 Chromosome 17, 7577547: 7577547
114 TP53 NM_000546.5(TP53): c.734G> C (p.Gly245Ala) single nucleotide variant Likely pathogenic rs121912656 GRCh38 Chromosome 17, 7674229: 7674229
115 TP53 NM_000546.5(TP53): c.731G> A (p.Gly244Asp) single nucleotide variant Pathogenic/Likely pathogenic rs985033810 GRCh37 Chromosome 17, 7577550: 7577550
116 TP53 NM_000546.5(TP53): c.731G> A (p.Gly244Asp) single nucleotide variant Pathogenic/Likely pathogenic rs985033810 GRCh38 Chromosome 17, 7674232: 7674232
117 PIK3CA NM_006218.3(PIK3CA): c.1637A> C (p.Gln546Pro) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
118 PIK3CA NM_006218.3(PIK3CA): c.1633G> C (p.Glu545Gln) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs104886003 GRCh37 Chromosome 3, 178936091: 178936091
119 PIK3CA NM_006218.3(PIK3CA): c.1633G> C (p.Glu545Gln) single nucleotide variant Pathogenic/Likely pathogenic,drug response rs104886003 GRCh38 Chromosome 3, 179218303: 179218303
120 PIK3CA NM_006218.3(PIK3CA): c.1637A> C (p.Gln546Pro) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh38 Chromosome 3, 179218307: 179218307
121 PIK3CA NM_006218.3(PIK3CA): c.1637A> T (p.Gln546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh37 Chromosome 3, 178936095: 178936095
122 PIK3CA NM_006218.3(PIK3CA): c.1637A> T (p.Gln546Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397517201 GRCh38 Chromosome 3, 179218307: 179218307
123 PTEN NM_000314.6(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh37 Chromosome 10, 89692904: 89692904
124 PTEN NM_000314.6(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121909224 GRCh38 Chromosome 10, 87933147: 87933147
125 ERBB2 NM_004448.3(ERBB2): c.2524G> A (p.Val842Ile) single nucleotide variant Pathogenic/Likely pathogenic rs1057519738 GRCh37 Chromosome 17, 37881332: 37881332
126 ERBB2 NM_004448.3(ERBB2): c.2524G> A (p.Val842Ile) single nucleotide variant Pathogenic/Likely pathogenic rs1057519738 GRCh38 Chromosome 17, 39725079: 39725079
127 TP53 NM_001126112.2(TP53): c.746G> C (p.Arg249Thr) single nucleotide variant Likely pathogenic rs587782329 GRCh37 Chromosome 17, 7577535: 7577535
128 TP53 NM_001126112.2(TP53): c.746G> C (p.Arg249Thr) single nucleotide variant Likely pathogenic rs587782329 GRCh38 Chromosome 17, 7674217: 7674217
129 U2AF1 NM_006758.2(U2AF1): c.101C> T (p.Ser34Phe) single nucleotide variant Likely pathogenic rs371769427 GRCh37 Chromosome 21, 44524456: 44524456
130 U2AF1 NM_006758.2(U2AF1): c.101C> T (p.Ser34Phe) single nucleotide variant Likely pathogenic rs371769427 GRCh38 Chromosome 21, 43104346: 43104346
131 U2AF1 NM_001025203.1(U2AF1): c.101C> A (p.Ser34Tyr) single nucleotide variant Likely pathogenic rs371769427 GRCh37 Chromosome 21, 44524456: 44524456
132 U2AF1 NM_001025203.1(U2AF1): c.101C> A (p.Ser34Tyr) single nucleotide variant Likely pathogenic rs371769427 GRCh38 Chromosome 21, 43104346: 43104346
133 PIK3CA NM_006218.3(PIK3CA): c.263G> A (p.Arg88Gln) single nucleotide variant Likely pathogenic rs121913287 GRCh37 Chromosome 3, 178916876: 178916876
134 PIK3CA NM_006218.3(PIK3CA): c.263G> A (p.Arg88Gln) single nucleotide variant Likely pathogenic rs121913287 GRCh38 Chromosome 3, 179199088: 179199088
135 PIK3CA NM_006218.3(PIK3CA): c.1035T> A (p.Asn345Lys) single nucleotide variant Likely pathogenic rs121913284 GRCh37 Chromosome 3, 178921553: 178921553
136 PIK3CA NM_006218.3(PIK3CA): c.1035T> A (p.Asn345Lys) single nucleotide variant Likely pathogenic rs121913284 GRCh38 Chromosome 3, 179203765: 179203765
137 PIK3R1 NM_181523.2(PIK3R1): c.1126G> C (p.Gly376Arg) single nucleotide variant Likely pathogenic rs1057519757 GRCh37 Chromosome 5, 67589138: 67589138
138 PIK3R1 NM_181523.2(PIK3R1): c.1126G> C (p.Gly376Arg) single nucleotide variant Likely pathogenic rs1057519757 GRCh38 Chromosome 5, 68293310: 68293310
139 ERBB3 NM_001982.3(ERBB3): c.889G> T (p.Asp297Tyr) single nucleotide variant Likely pathogenic rs1057519891 GRCh37 Chromosome 12, 56482341: 56482341
140 ERBB3 NM_001982.3(ERBB3): c.889G> T (p.Asp297Tyr) single nucleotide variant Likely pathogenic rs1057519891 GRCh38 Chromosome 12, 56088557: 56088557
141 ERBB3 NM_001982.3(ERBB3): c.890A> T (p.Asp297Val) single nucleotide variant Likely pathogenic rs1057519892 GRCh37 Chromosome 12, 56482342: 56482342
142 ERBB3 NM_001982.3(ERBB3): c.890A> T (p.Asp297Val) single nucleotide variant Likely pathogenic rs1057519892 GRCh38 Chromosome 12, 56088558: 56088558
143 ERBB3 NM_001982.3(ERBB3): c.889G> A (p.Asp297Asn) single nucleotide variant Likely pathogenic rs1057519891 GRCh37 Chromosome 12, 56482341: 56482341
144 ERBB3 NM_001982.3(ERBB3): c.889G> A (p.Asp297Asn) single nucleotide variant Likely pathogenic rs1057519891 GRCh38 Chromosome 12, 56088557: 56088557
145 ERBB3 NM_001982.3(ERBB3): c.310G> A (p.Val104Met) single nucleotide variant Likely pathogenic rs1057519893 GRCh37 Chromosome 12, 56478854: 56478854
146 ERBB3 NM_001982.3(ERBB3): c.310G> A (p.Val104Met) single nucleotide variant Likely pathogenic rs1057519893 GRCh38 Chromosome 12, 56085070: 56085070
147 ERBB3 NM_001982.3(ERBB3): c.310G> T (p.Val104Leu) single nucleotide variant Likely pathogenic rs1057519893 GRCh37 Chromosome 12, 56478854: 56478854
148 ERBB3 NM_001982.3(ERBB3): c.310G> T (p.Val104Leu) single nucleotide variant Likely pathogenic rs1057519893 GRCh38 Chromosome 12, 56085070: 56085070
149 FBXW7 NM_001013415.2(FBXW7): c.1039C> T (p.Arg347Cys) single nucleotide variant Likely pathogenic rs867384286 GRCh37 Chromosome 4, 153249385: 153249385
150 FBXW7 NM_001013415.2(FBXW7): c.1039C> T (p.Arg347Cys) single nucleotide variant Likely pathogenic rs867384286 GRCh38 Chromosome 4, 152328233: 152328233
151 FBXW7 NM_001013415.2(FBXW7): c.1040G> A (p.Arg347His) single nucleotide variant Likely pathogenic rs1057519895 GRCh37 Chromosome 4, 153249384: 153249384
152 FBXW7 NM_001013415.2(FBXW7): c.1040G> A (p.Arg347His) single nucleotide variant Likely pathogenic rs1057519895 GRCh38 Chromosome 4, 152328232: 152328232
153 FBXW7 NM_001013415.2(FBXW7): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs1057519895 GRCh37 Chromosome 4, 153249384: 153249384
154 FBXW7 NM_001013415.2(FBXW7): c.1040G> C (p.Arg347Pro) single nucleotide variant Likely pathogenic rs1057519895 GRCh38 Chromosome 4, 152328232: 152328232
155 FBXW7 NM_001013415.2(FBXW7): c.1040G> T (p.Arg347Leu) single nucleotide variant Likely pathogenic rs1057519895 GRCh37 Chromosome 4, 153249384: 153249384
156 FBXW7 NM_001013415.2(FBXW7): c.1040G> T (p.Arg347Leu) single nucleotide variant Likely pathogenic rs1057519895 GRCh38 Chromosome 4, 152328232: 152328232
157 FBXW7 NM_001013415.2(FBXW7): c.1039C> G (p.Arg347Gly) single nucleotide variant Likely pathogenic rs867384286 GRCh37 Chromosome 4, 153249385: 153249385
158