ADCC
MCID: ADR054
MIFTS: 47

Adrenocortical Carcinoma, Hereditary (ADCC)

Categories: Cancer diseases, Endocrine diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Adrenocortical Carcinoma, Hereditary

MalaCards integrated aliases for Adrenocortical Carcinoma, Hereditary:

Name: Adrenocortical Carcinoma, Hereditary 57 29 6 39 70
Adrenocortical Carcinoma, Pediatric 57 29 6 70
Adrenocortical Carcinoma 58 72 70
Adcc 57 72
Malignant Neoplasm of Adrenal Cortex 70
Hereditary Adrenocortical Carcinoma 72
Pediatric Adrenocortical Carcinoma 72
Tumors of Adrenal Cortex 70

Characteristics:

Orphanet epidemiological data:

58
adrenocortical carcinoma
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
adrenocortical carcinoma, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases


External Ids:

OMIM® 57 202300
MeSH 44 D018268
MESH via Orphanet 45 D018268
ICD10 via Orphanet 33 C74.0
UMLS via Orphanet 71 C0206686
Orphanet 58 ORPHA1501
SNOMED-CT via HPO 68 2227007 255035007 263681008
UMLS 70 C0001618 C0206686 C0346402 more

Summaries for Adrenocortical Carcinoma, Hereditary

OMIM® : 57 Adrenocortical carcinoma (ADCC) is a rare but aggressive childhood tumor, representing about 0.4% of childhood tumors, with a high incidence of associated tumors. ADCC occurs with increased frequency in patients with the Beckwith-Wiedemann syndrome (130650) and is a component tumor in Li-Fraumeni syndrome (LFS; 151623). (202300) (Updated 20-May-2021)

MalaCards based summary : Adrenocortical Carcinoma, Hereditary, also known as adrenocortical carcinoma, pediatric, is related to adrenal cortical carcinoma and adrenal cortical adenocarcinoma, and has symptoms including fever and flank pain. An important gene associated with Adrenocortical Carcinoma, Hereditary is TP53 (Tumor Protein P53). The drugs Streptozocin and Mitotane have been mentioned in the context of this disorder. Affiliated tissues include cortex, adrenal cortex and adrenal gland, and related phenotypes are adrenocortical carcinoma and hyperhidrosis

UniProtKB/Swiss-Prot : 72 Adrenocortical carcinoma: A malignant neoplasm of the adrenal cortex and a rare childhood tumor. It occurs with increased frequency in patients with Beckwith-Wiedemann syndrome and Li-Fraumeni syndrome.

Related Diseases for Adrenocortical Carcinoma, Hereditary

Diseases related to Adrenocortical Carcinoma, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 366)
# Related Disease Score Top Affiliating Genes
1 adrenal cortical carcinoma 11.9
2 adrenal cortical adenocarcinoma 11.7
3 adrenal carcinoma 11.6
4 li-fraumeni syndrome 11.3
5 adrenocortical carcinoma with pure aldosterone hypersecretion 11.3
6 conn's syndrome 11.2
7 rare tumor 10.7
8 adenoma 10.7
9 li-fraumeni syndrome 2 10.5
10 hypokalemia 10.5
11 adrenal cortical adenoma 10.5
12 pheochromocytoma 10.4
13 adrenal gland pheochromocytoma 10.4
14 infant gynecomastia 10.4
15 gynecomastia 10.4
16 renal cell carcinoma, nonpapillary 10.4
17 precocious puberty 10.4
18 lynch syndrome 10.3
19 multiple endocrine neoplasia 10.3
20 tumor predisposition syndrome 10.3
21 cutaneous telangiectasia and cancer syndrome, familial 10.3
22 adrenal adenoma 10.3
23 inherited cancer-predisposing syndrome 10.3
24 amenorrhea 10.3
25 hyperandrogenism 10.3
26 hypoglycemia 10.3
27 beckwith-wiedemann syndrome 10.2
28 multiple endocrine neoplasia, type i 10.2
29 cardiac arrest 10.2
30 acne 10.2
31 human immunodeficiency virus type 1 10.2
32 hemihyperplasia, isolated 10.1
33 endometrial cancer 10.1
34 familial adenomatous polyposis 10.1
35 neutropenia 10.1
36 lymphoma, hodgkin, classic 10.1
37 severe combined immunodeficiency 10.1
38 lipoid congenital adrenal hyperplasia 10.1
39 paraganglioma 10.1
40 li-fraumeni syndrome 1 10.1
41 rhabdomyosarcoma 10.1
42 pulmonary embolism 10.1
43 47,xyy 10.1
44 central precocious puberty 10.1
45 adrenogenital syndrome 10.1
46 burkitt lymphoma 10.0
47 leukemia, acute myeloid 10.0
48 lymphoma, non-hodgkin, familial 10.0
49 acquired immunodeficiency syndrome 10.0
50 influenza 10.0

Graphical network of the top 20 diseases related to Adrenocortical Carcinoma, Hereditary:



Diseases related to Adrenocortical Carcinoma, Hereditary

Symptoms & Phenotypes for Adrenocortical Carcinoma, Hereditary

Human phenotypes related to Adrenocortical Carcinoma, Hereditary:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 adrenocortical carcinoma 58 31 Obligate (100%) HP:0006744
2 hyperhidrosis 58 Frequent (79-30%)
3 diabetes mellitus 58 Frequent (79-30%)
4 hypertension 58 Frequent (79-30%)
5 muscle weakness 58 Frequent (79-30%)
6 hypokalemia 58 Frequent (79-30%)
7 anxiety 58 Frequent (79-30%)
8 irritability 58 Frequent (79-30%)
9 abdominal pain 58 Frequent (79-30%)
10 striae distensae 58 Frequent (79-30%)
11 hyperaldosteronism 58 Frequent (79-30%)
12 weight loss 58 Frequent (79-30%)
13 abnormality of metabolism/homeostasis 58 Frequent (79-30%)
14 abnormality of urine homeostasis 58 Occasional (29-5%)
15 abnormality of reproductive system physiology 58 Frequent (79-30%)
16 lung adenocarcinoma 58 Frequent (79-30%)
17 adrenocorticotropic hormone deficiency 58 Frequent (79-30%)
18 hypertrichosis 58 Frequent (79-30%)
19 increased body weight 58 Frequent (79-30%)
20 increased circulating androgen level 58 Frequent (79-30%)
21 palpitations 58 Frequent (79-30%)
22 increased urinary cortisol level 58 Frequent (79-30%)
23 increased circulating cortisol level 58 Frequent (79-30%)
24 paradoxical increased cortisol secretion on dexamethasone suppression test 58 Frequent (79-30%)
25 increased serum estradiol 58 Frequent (79-30%)
26 panic attack 58 Frequent (79-30%)
27 increased serum androstenedione 58 Frequent (79-30%)
28 elevated serum 11-deoxycortisol 58 Frequent (79-30%)
29 abnormal serum dehydroepiandrosterone level 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
adrenocortical carcinoma

Endocrine Features:
virilism

Clinical features from OMIM®:

202300 (Updated 20-May-2021)

UMLS symptoms related to Adrenocortical Carcinoma, Hereditary:


fever; flank pain

Drugs & Therapeutics for Adrenocortical Carcinoma, Hereditary

Drugs for Adrenocortical Carcinoma, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 121)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Streptozocin Approved, Investigational Phase 3 18883-66-4 29327
2
Mitotane Approved Phase 3 53-19-0 4211
3
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
4
Etoposide Approved Phase 3 33419-42-0 36462
5
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
6
Lenograstim Approved, Investigational Phase 3 135968-09-1
7 Tubulin Modulators Phase 3
8 Antimitotic Agents Phase 3
9 Dermatologic Agents Phase 3
10 Podophyllotoxin Phase 3 518-28-5
11 Keratolytic Agents Phase 3
12 Antineoplastic Agents, Hormonal Phase 3
13 Anti-Bacterial Agents Phase 3
14 Etoposide phosphate Phase 3
15
Liposomal doxorubicin Phase 3 31703
16 Antibiotics, Antitubercular Phase 3
17
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
18
Lactitol Approved, Investigational Phase 2 585-86-4 157355
19
acetic acid Approved Phase 2 64-19-7 176
20
Sodium citrate Approved, Investigational Phase 2 68-04-2
21
Tamoxifen Approved Phase 2 10540-29-1 2733526
22
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
23
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
24
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
25
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
26
Oxaliplatin Approved, Investigational Phase 2 61825-94-3 5310940 9887054 6857599 43805
27
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
28
Ipilimumab Approved Phase 2 477202-00-9
29
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
30
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
31
Cetuximab Approved Phase 2 205923-56-4 56842117 2333
32
tannic acid Approved Phase 2 1401-55-4
33
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
34
Pembrolizumab Approved Phase 2 1374853-91-4
35
rituximab Approved Phase 2 174722-31-7 10201696
36
nivolumab Approved Phase 2 946414-94-4
37
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
38
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
39
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
40
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
41
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
42 Gossypol Investigational Phase 2 303-45-7
43
Suramin Investigational Phase 2 145-63-1 5361
44 Gossypol acetic acid Phase 2
45 Retinol palmitate Phase 2
46
Retinol acetate Phase 2 127-47-9 10245972
47 Contraceptive Agents, Male Phase 2
48 Contraceptive Agents Phase 2
49 Adjuvants, Immunologic Phase 2
50 Spermatocidal Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 77)
# Name Status NCT ID Phase Drugs
1 Efficacy of Adjuvant Mitotane Treatment in Prolonging Recurrence-free Survival in Patients With Adrenocortical Carcinoma at Low-intermediate Risk of Recurrence Unknown status NCT00777244 Phase 3 MITOTANE
2 A Randomized, Double-blind, Placebo-controlled, Phase 3 Study of OSI-906 in Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma Completed NCT00924989 Phase 3 OSI-906
3 First International Randomized Trial in Locally Advanced and Metastatic Adrenocortical Carcinoma Treatment Completed NCT00094497 Phase 3 Etoposide;Doxorubicin;Cisplatin;Streptozotocin;Mitotane
4 Mitotane With or Without Cisplatin and Etoposide After Surgery in Treating Participants With Stage I-III Adrenocortical Cancer With High Risk of Recurrence Recruiting NCT03723941 Phase 3 Cisplatin plus Etoposide
5 Mitotane With or Without Cisplatin and Etoposide After Surgery in Treating Participants With Stage I-III Adrenocortical Cancer With High Risk of Recurrence (ADIUVO-2) Recruiting NCT03583710 Phase 3 Cisplatin;Etoposide;Mitotane
6 Treatment of Adrenocortical Tumors With Surgery Plus Lymph Node Dissection and Multiagent Chemotherapy: A Groupwide Phase III Study Active, not recruiting NCT00304070 Phase 3 doxorubicin hydrochloride;cisplatin;mitotane;etoposide
7 Sorafenib Plus Paclitaxel Metronomic Chemotherapy in Adreno-Cortical-Carcinoma Patients Progressing After 1st or 2nd Line Cytotoxic Chemotherapy Unknown status NCT00786110 Phase 2 Sorafenib;Paclitaxel
8 Phase II Clinical Trial of Dovitinib (TKI-258) in First-line Metastatic or Locally Advanced Non-resectable Adrenocortical Carcinoma Completed NCT01514526 Phase 2 Dovitinib
9 A Phase II Study of the Orally Administered Negative Enantiomer of Gossypol (AT-101) in Patients With Advanced Adrenocortical Carcinoma (ACC) Completed NCT00848016 Phase 2 R-(-)-gossypol acetic acid
10 Cisplatin, Doxorubicin and Tamoxifen in the Treatment of Incurable Soft Tissue and Endocrine Malignancies Completed NCT00002608 Phase 2 cisplatin;doxorubicin hydrochloride;tamoxifen citrate
11 Phase II Trial of Surgical Resection and Heated Intraperitoneal Peritoneal Chemotherapy (HIPEC) for Adrenocortical Carcinoma Completed NCT01833832 Phase 2 Cisplatin;sodium thiosulfate
12 Sunitinib in Refractory Adrenocortical-Carcinoma Patients Progressing After Cytotoxic Chemotherapy Completed NCT00453895 Phase 2 Sunitinib
13 A Phase II Trial of ZD1839 (Iressa) in Patients With Nonresectable Adrenocortical Carcinoma (ACC) Completed NCT00215202 Phase 2 Iressa (ZD1839)
14 Phase II Trial With Taxotere and Cisplatin in Non-operable Adrenocortical Carcinoma Completed NCT00324012 Phase 2 cisplatin, taxotere
15 A Study of Combination Chemotherapy and Surgical Resection in the Treatment of Adrenocortical Carcinoma: Continuous Infusion Doxorubicin, Vincristine and Etoposide With Daily Mitotane Before and After Surgical Resection Completed NCT00001339 Phase 2 doxorubicin, vincristine, and etoposide with mitotane
16 A Phase II Study of IMC-A12 (Anti-IGF-I Receptor Monoclonal Antibody, NSC #742460) in Children With Relapsed/Refractory Solid Tumors Completed NCT00831844 Phase 2
17 A Phase II, Open-label, Dose Titration, Multi-center Study to Assess the Safety/Tolerability and Efficacy of Osilodrostat in Patients With All Types of Endogenous Cushing's Syndrome Except Cushing's Disease Completed NCT02468193 Phase 2 Osilodrostat
18 Phase II Study of Axitinib (AG-013736) With Evaluation of the VEGF-Pathway in Metastatic, Recurrent or Primary Unresectable Adrenocortical Cancer Completed NCT01255137 Phase 2 Axitinib
19 A Phase 1/2 Dose Escalation Study to Determine the Safety, Pharmacokinetics, and Pharmacodynamics of Intravenous TKM-080301 in Patients With Advanced Solid Tumors Completed NCT01262235 Phase 1, Phase 2 TKM-080301
20 A Study of Combination Chemotherapy & Surgical Resection in the Tx of Adrenocortical Cancer: Mitotane & Continuous Infusion Doxorubicin, Vincristine & Etoposide w/the P-glycoprotein Antagonist, Tariquidar (XR9576), Before & After Surgical Resection Completed NCT00071058 Phase 2 XR9576 (Tariquidar)
21 Evaluation of 123I-Iodometomidate for Adrenal Scintigraphy Completed NCT00454103 Phase 1, Phase 2 123I-Iodometomidate
22 A Phase II Study of Oxaliplatin in Children With Recurrent Solid Tumors Completed NCT00091182 Phase 2 oxaliplatin
23 A Phase 1/2 Trial of a Novel Therapeutic Vaccine (EO2401) in Combination With Immune Check Point Blockade, for Treatment of Patients With Locally Advanced or Metastatic Adrenocortical Carcinoma, or Malignant Pheochromocytoma/Paraganglioma Recruiting NCT04187404 Phase 1, Phase 2
24 Phase II Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable/Metastatic Adrenocortical Carcinoma Recruiting NCT03612232 Phase 2 Cabozantinib-s-malate
25 Multicenter, Prospective, Non-randomized, Phase II Trial Designed to Evaluate the Activity of Cabazitaxel in Patients With Advanced Adreno-Cortical- Carcinoma Progressing After Previous Chemotherapy Lines Recruiting NCT03257891 Phase 2 Cabazitaxel
26 Phase II Trial of Surgical Resection and Heated Intraperitoneal Peritoneal Chemotherapy (HIPEC) for Adrenocortical Carcinoma Recruiting NCT03127774 Phase 2 Cisplatin;Sodium thiosulfate
27 A Phase II Study to Evaluate the Effects of Cabozantinib in Patients With Unresectable/Metastatic Adrenocortical Carcinoma Recruiting NCT03370718 Phase 2 Cabozantinib
28 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
29 Phase II Study for the Evaluation of Efficacy of Pembrolizumab (MK-3475) in Patients With Rare Tumors Recruiting NCT02721732 Phase 2
30 A Phase II Study of Nivolumab Combined With Ipilimumab for Patients With Advanced Rare Genitourinary Tumors Recruiting NCT03333616 Phase 2 Ipilimumab;Nivolumab
31 A Multicenter, Randomized, Open-label, Phase II Trial Aiming to Evaluate the Impact of Pegfilgrastim on Trastuzumab Anti-tumor Effect and ADCC in Operable HER2 Positive Breast Cancer Patients Recruiting NCT03571633 Phase 2 Trastuzumab + Paclitaxel;Pegfilgrastim
32 Phase II Study of Avelumab Plus Intermittent Axitinib in Previously Untreated Patients With Metastatic Renal Cell Carcinoma (Tide-A Study) Recruiting NCT04698213 Phase 2 Axitinib Oral Tablet;Avelumab
33 A Phase IIa Study of RItuximab and VArlilumab in Relapsed or Refractory B-cell Malignancies Recruiting NCT03307746 Phase 1, Phase 2 Varlilumab
34 An Open-label, Non-randomized, Multi-arm, Phase II Trial to Evaluate the Efficacy of Pembrolizumab Combined With Cetuximab in Patients With Recurrent/Metastatic Head and Neck Squamous Cell Carcinoma (HNSCC) Recruiting NCT03082534 Phase 2 Pembrolizumab, Cetuximab
35 A Phase II Clinical Trial of Single Agent Pembrolizumab in Subjects With Advanced Adrenocortical Carcinoma Active, not recruiting NCT02673333 Phase 2 Pembrolizumab
36 Activity of Abiraterone Acetate in the Management of Cushing's Syndrome in Patients With Adrenocortical Carcinoma Active, not recruiting NCT03145285 Phase 2 Abiraterone Acetate
37 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Active, not recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
38 Phase II Study for Combination of Camrelizumab and Apatinib in the Second-line Treatment of Recurrent or Metastatic Adrenocortical Carcinoma Not yet recruiting NCT04318730 Phase 2 Camrelizumab
39 Toripalimab Combine With Rituximab for Treatment of Relapsed Refractory CD20 Positive Diffuse Large B-cell Lymphoma: An Exploratory Small Sample, Phase II, Single-center Clinical Trail Not yet recruiting NCT04425824 Phase 2 Toripalimab combine with Rituximab
40 Multi-Institutional Phase II Study of IMC-A12, a Recombinant Human IgG1 Monoclonal Antibody Directed at the Type I Insulin-Like Growth Factor Receptor IGF1R, in Adrenocortical Carcinoma: IMC-A12 With Mitotane vs Mitotane Alone Terminated NCT00778817 Phase 2 mitotane
41 Evaluation of Suramin in Advanced Adrenal Cortical Carcinoma, Phase II Terminated NCT00002921 Phase 2 suramin;therapeutic hydrocortisone
42 Phase II Study of Antineoplastons A10 and AS2-1 In Patients With Carcinoma of the Adrenal Gland Terminated NCT00003453 Phase 2 Antineoplaston therapy (Atengenal + Astugenal)
43 Phase II Study of Nivolumab (Anti-PD-1 Antibody) for Treatment of Metastatic Adrenocortical Carcinoma Terminated NCT02720484 Phase 2 Nivolumab
44 A Phase II Study of Bevacizumab in Patients With Nonresectable Cancer of the Adrenal Cortex. Withdrawn NCT00469469 Phase 2 Bevacizumab
45 A Phase I Trial of Combined Nimotuzumab With NK Cells Adoptive Transfer for the Treatment of Advanced Cancer Unknown status NCT03554889 Phase 1 Nimotuzumab
46 A Phase I, Open-label, Multiple-ascending Dose Trial to Investigate the Safety, Tolerability, Pharmacokinetics, Biological and Clinical Activity of Avelumab (MSB0010718C) in Subjects With Metastatic or Locally Advanced Solid Tumors and Expansion to Selected Indications Completed NCT01772004 Phase 1 Avelumab
47 A Phase 1 Dose Escalation Study of Seneca Valley Virus (NTX-010), A Replication-Competent Picornavirus, in Relapsed/Refractory Pediatric Patients With Neuroblastoma, Rhabdomyosarcoma, or Rare Tumors With Neuroendocrine Features Completed NCT01048892 Phase 1 cyclophosphamide
48 A Phase I Trial of Suramin With Sequential Doxorubicin in Patients With Advanced Solid Tumors Completed NCT00003038 Phase 1 doxorubicin hydrochloride;suramin
49 Phase 1 Study of the Safety and Tolerability of ATR-101 in Adrenocortical Carcinoma Completed NCT01898715 Phase 1 ATR-101
50 A Phase I Study of Continuous Hyperthermic Peritoneal Perfusion (CHPP) With Escalating Doses of Cisplatin for Children With Peritoneal Carcinomatosis or Advanced Peritoneal and Retroperitoneal Disease Completed NCT00436657 Phase 1 CHPP of Cisplatin

Search NIH Clinical Center for Adrenocortical Carcinoma, Hereditary

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Mitotane

Genetic Tests for Adrenocortical Carcinoma, Hereditary

Genetic tests related to Adrenocortical Carcinoma, Hereditary:

# Genetic test Affiliating Genes
1 Adrenocortical Carcinoma, Hereditary 29 TP53
2 Adrenocortical Carcinoma, Pediatric 29

Anatomical Context for Adrenocortical Carcinoma, Hereditary

MalaCards organs/tissues related to Adrenocortical Carcinoma, Hereditary:

40
Cortex, Adrenal Cortex, Adrenal Gland, Thyroid, Liver, Lung, Breast

Publications for Adrenocortical Carcinoma, Hereditary

Articles related to Adrenocortical Carcinoma, Hereditary:

(show top 50) (show all 2669)
# Title Authors PMID Year
1
Identification of a novel TP53 germline mutation E285V in a rare case of paediatric adrenocortical carcinoma and choroid plexus carcinoma. 57 6 61
18762572 2008
2
Inhibin alpha-subunit (INHA) gene and locus changes in paediatric adrenocortical tumours from TP53 R337H mutation heterozygote carriers. 57 6
15121773 2004
3
Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development. 57 61
20106872 2010
4
Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. 6 61
16033918 2006
5
A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. 61 6
11753428 2002
6
Molecular definition of the 11p15.5 region involved in Beckwith-Wiedemann syndrome and probably in predisposition to adrenocortical carcinoma. 61 57
2921038 1989
7
Deletion mapping of chromosome 17 in benign and malignant adrenocortical tumors associated with the Arg337His mutation of the p53 tumor suppressor protein. 6
15741269 2005
8
Germline TP53 mutations and Li-Fraumeni syndrome. 57
12619118 2003
9
An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. 6
11600572 2001
10
An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. 6
11481490 2001
11
Comparative genomic hybridization analysis of adrenocortical tumors of childhood. 57
10084604 1999
12
Structural and functional abnormalities at 11p15 are associated with the malignant phenotype in sporadic adrenocortical tumors: study on a series of 82 tumors. 57
9253334 1997
13
Virilizing adrenal carcinoma in two sibs. 57
5096538 1971
14
Adrenocortical neoplasms with hemihypertrophy, brain tumors, and other disorders. 57
6016796 1967
15
Case report of adrenocortical carcinoma associated with double germline mutations in MSH2 and RET. 61
33615670 2021
16
Long-term outcomes in patients with advanced adrenocortical carcinoma after image-guided locoregional ablation or embolization. 61
33687146 2021
17
Reassessing the impact of tumor size on operative approach in adrenocortical carcinoma. 61
33577722 2021
18
Expression patterns and prognostic value of m6A RNA methylation regulators in adrenocortical carcinoma. 61
33725886 2021
19
Adrenocortical Carcinoma. 61
33802418 2021
20
Preoperative Detection of Liver Involvement by Right-Sided Adrenocortical Carcinoma Using CT and MRI. 61
33807178 2021
21
Sex Differences on Mitotane Concentration and Treatment Outcome in Patients with Adrenocortical Carcinoma. 61
33807024 2021
22
Neutrophil-to-Lymphocyte Ratio (NLR) and Platelet-to-Lymphocyte Ratio (PLR) as Possible Prognostic Markers for Patients Undergoing Resection of Adrenocortical Carcinoma. 61
33221947 2021
23
11-Oxygenated Estrogens Are a Novel Class of Human Estrogens but Do not Contribute to the Circulating Estrogen Pool. 61
33508108 2021
24
11-Oxygenated Estrogens Are a Novel Class of Human Estrogens but Do not Contribute to the Circulating Estrogen Pool. 61
33570111 2021
25
11-Oxygenated Estrogens Are a Novel Class of Human Estrogens but Do not Contribute to the Circulating Estrogen Pool. 61
33340399 2021
26
Identification of NDRG Family Member 4 (NDRG4) and CDC28 Protein Kinase Regulatory Subunit 2 (CKS2) as Key Prognostic Genes in Adrenocortical Carcinoma by Transcriptomic Analysis. 61
33667214 2021
27
Immunotherapy in Adrenocortical Carcinoma: Predictors of Response, Efficacy, Safety, and Mechanisms of Resistance. 61
33809752 2021
28
A rare association of two endocrine tumours: non-functional oncocytic adrenocortical carcinoma and Papillary thyroid carcinoma. 61
33675218 2021
29
Epidemiology and Comorbidity of Adrenal Cushing Syndrome: A Nationwide Cohort Study. 61
33075802 2021
30
Adrenal tumors of different types with or without tumor thrombus invading the inferior vena cava: An evaluation of 33 cases. 61
33773281 2021
31
Steroid sulfation in adrenal tumors. 61
33739426 2021
32
A case of adrenocortical adenoma harboring venous thrombus mimicking adrenal malignancy. 61
33658437 2021
33
Methiothepin Increases Chemotherapy Efficacy against Resistant Melanoma Cells. 61
33810240 2021
34
Rare but serious cause for hypokalaemia and hypertension. 61
33664034 2021
35
Delayed identification of adolescent adrenal cortical carcinoma initially diagnosed as polycystic ovary syndrome. 61
33775909 2021
36
Thermal ablation in adrenal disorders: a discussion of the technology, the clinical evidence and the future. 61
33741778 2021
37
Approach to patients with European Network for the Study of Adrenal Tumor stages I and II adrenocortical carcinomas. 61
33709971 2021
38
Diabetes mellitus and hyperglycemia are associated with inferior oncologic outcomes in adrenocortical carcinoma. 61
33521844 2021
39
Yttrium-90 radioembolization of isolated hepatic adrenocortical carcinoma metastases with negative surgical pathology. 61
33604708 2021
40
Cumulative GRAS Score as a Predictor of Survival After Resection for Adrenocortical Carcinoma: Analysis From the U.S. Adrenocortical Carcinoma Database. 61
33586069 2021
41
Medical management of adrenocortical carcinoma: Current recommendations, new therapeutic options and future perspectives. 61
33279475 2021
42
[Myxoid variant of adrenocortical carcinoma]. 61
33549334 2021
43
Construction of a robust prognostic model for adult adrenocortical carcinoma: Results from bioinformatics and real-world data. 61
33626208 2021
44
Cushing's syndrome and bone metastases as the manifestation of adrenocortical carcinoma. 61
33624953 2021
45
The Role of Biomarkers in Adrenocortical Carcinoma: A Review of Current Evidence and Future Perspectives. 61
33578890 2021
46
Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging. 61
33578929 2021
47
Metabolic and hormonal side effects of mitotane treatment for adrenocortical carcinoma: A retrospective study in 50 Danish patients. 61
32996176 2021
48
Diagnostic dilemma for an adrenal mass: perivascular epithelioid cell neoplasm versus adrenocortical carcinoma. 61
33547853 2021
49
Sum of High-Risk Gene Mutation (SHGM): A Novel Attempt to Assist Differential Diagnosis for Adrenocortical Carcinoma with Benign Adenoma, Based on Detection of Mutations of Nine Target Genes. 61
33564960 2021
50
ENSAT registry-based randomized clinical trials for adrenocortical carcinoma. 61
33166271 2021

Variations for Adrenocortical Carcinoma, Hereditary

ClinVar genetic disease variations for Adrenocortical Carcinoma, Hereditary:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TP53 NM_000546.5(TP53):c.559+1G>A SNV Pathogenic 428908 rs1131691042 GRCh37: 17:7578370-7578370
GRCh38: 17:7675052-7675052
2 TP53 NM_000546.6(TP53):c.524G>A (p.Arg175His) SNV Pathogenic 12374 rs28934578 GRCh37: 17:7578406-7578406
GRCh38: 17:7675088-7675088
3 TP53 NM_000546.5(TP53):c.96+1G>T SNV Pathogenic 482212 rs1131691003 GRCh37: 17:7579699-7579699
GRCh38: 17:7676381-7676381
4 TP53 NM_000546.6(TP53):c.1010G>A (p.Arg337His) SNV Pathogenic 12379 rs121912664 GRCh37: 17:7574017-7574017
GRCh38: 17:7670699-7670699
5 TP53 NM_000546.6(TP53):c.1010G>A (p.Arg337His) SNV Pathogenic 12379 rs121912664 GRCh37: 17:7574017-7574017
GRCh38: 17:7670699-7670699
6 TP53 NM_000546.6(TP53):c.818G>A (p.Arg273His) SNV Pathogenic 12366 rs28934576 GRCh37: 17:7577120-7577120
GRCh38: 17:7673802-7673802
7 TP53 NM_000546.5(TP53):c.854A>T (p.Glu285Val) SNV Pathogenic 12384 rs121912667 GRCh37: 17:7577084-7577084
GRCh38: 17:7673766-7673766
8 TP53 NM_000546.6(TP53):c.743G>A (p.Arg248Gln) SNV Pathogenic 12356 rs11540652 GRCh37: 17:7577538-7577538
GRCh38: 17:7674220-7674220
9 TP53 NM_000546.5(TP53):c.799C>T (p.Arg267Trp) SNV Likely pathogenic 141764 rs55832599 GRCh37: 17:7577139-7577139
GRCh38: 17:7673821-7673821
10 TP53 NM_000546.6(TP53):c.847C>T (p.Arg283Cys) SNV Uncertain significance 127824 rs149633775 GRCh37: 17:7577091-7577091
GRCh38: 17:7673773-7673773
11 TP53 NM_000546.5(TP53):c.466C>T (p.Arg156Cys) SNV Uncertain significance 127810 rs563378859 GRCh37: 17:7578464-7578464
GRCh38: 17:7675146-7675146
12 TP53 NM_000546.5(TP53):c.461G>A (p.Gly154Asp) SNV Uncertain significance 237950 rs762846821 GRCh37: 17:7578469-7578469
GRCh38: 17:7675151-7675151
13 TP53 NM_000546.5(TP53):c.760A>G (p.Ile254Val) SNV Uncertain significance 406605 rs746601313 GRCh37: 17:7577521-7577521
GRCh38: 17:7674203-7674203

Expression for Adrenocortical Carcinoma, Hereditary

Search GEO for disease gene expression data for Adrenocortical Carcinoma, Hereditary.

Pathways for Adrenocortical Carcinoma, Hereditary

GO Terms for Adrenocortical Carcinoma, Hereditary

Sources for Adrenocortical Carcinoma, Hereditary

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