OC
MCID: OVR042
MIFTS: 89

Ovarian Cancer (OC)

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

Aliases & Classifications for Ovarian Cancer

MalaCards integrated aliases for Ovarian Cancer:

Name: Ovarian Cancer 57 12 75 53 25 59 74 37 29 55 6 43 3 15
Ovarian Carcinoma 12 53 25 55 15 17 72
Ovarian Neoplasms 55 6 44
Ovarian Neoplasm 12 17 72
Malignant Neoplasm of Ovary 72 33
Epithelial Ovarian Cancer 74 72
Neoplasm of Ovary 29 6
Primary Malignant Neoplasm of Ovary 72
Malignant Neoplasm of the Ovary 25
Malignant Tumor of the Ovary 25
Malignant Tumour of Ovary 12
Ovarian Cancer, Somatic 57
Malignant Ovarian Tumor 12
Ovarian Malignant Tumor 59
Primary Ovarian Cancer 12
Cancer of the Ovary 25
Tumor of the Ovary 12
Ovarian Carcinomas 15
Ovarian Cancers 15
Cancer, Ovarian 40
Ovary Neoplasm 12
Oc 74

Characteristics:

Orphanet epidemiological data:

59
ovarian cancer
Prevalence: 1-5/10000 (Europe);

OMIM:

57
Inheritance:
somatic mutation


HPO:

32
ovarian cancer:
Inheritance autosomal dominant inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:2394 DOID:4001
OMIM 57 167000
KEGG 37 H00027
ICD9CM 35 183.0
SNOMED-CT 68 93934004
ICD10 33 C56
UMLS via Orphanet 73 C1140680
Orphanet 59 ORPHA213500
UMLS 72 C0029925 C0677886 C0919267 more

Summaries for Ovarian Cancer

Genetics Home Reference : 25 Ovarian cancer is a disease that affects women. In this form of cancer, certain cells in the ovary become abnormal and multiply uncontrollably to form a tumor. The ovaries are the female reproductive organs in which egg cells are produced. In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases occur after age 60. The most common form of ovarian cancer begins in epithelial cells, which are the cells that line the surfaces and cavities of the body. These cancers can arise in the epithelial cells on the surface of the ovary. However, researchers suggest that many or even most ovarian cancers begin in epithelial cells on the fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous cells migrate to the ovary. Cancer can also begin in epithelial cells that form the lining of the abdomen (the peritoneum). This form of cancer, called primary peritoneal cancer, resembles epithelial ovarian cancer in its origin, symptoms, progression, and treatment. Primary peritoneal cancer often spreads to the ovaries. It can also occur even if the ovaries have been removed. Because cancers that begin in the ovaries, fallopian tubes, and peritoneum are so similar and spread easily from one of these structures to the others, they are often difficult to distinguish. These cancers are so closely related that they are generally considered collectively by experts. In about 10 percent of cases, ovarian cancer develops not in epithelial cells but in germ cells, which are precursors to egg cells, or in hormone-producing ovarian cells called granulosa cells. In its early stages, ovarian cancer usually does not cause noticeable symptoms. As the cancer progresses, signs and symptoms can include pain or a feeling of heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when eating, back pain, vaginal bleeding between menstrual periods or after menopause, or changes in urinary or bowel habits. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a woman has ovarian cancer. In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If ovarian cancer spreads, cancerous tumors most often appear in the abdominal cavity or on the surfaces of nearby organs such as the bladder or colon. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. Some ovarian cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary ovarian cancers tend to develop earlier in life than non-inherited (sporadic) cases. Because it is often diagnosed at a late stage, ovarian cancer can be difficult to treat; it leads to the deaths of about 14,000 women annually in the United States, more than any other gynecological cancer. However, when it is diagnosed and treated early, the 5-year survival rate is high.

MalaCards based summary : Ovarian Cancer, also known as ovarian carcinoma, is related to hereditary breast ovarian cancer syndrome and ovarian cancer 1, and has symptoms including pelvic pain An important gene associated with Ovarian Cancer is CTNNB1 (Catenin Beta 1), and among its related pathways/superpathways are MicroRNAs in cancer and ERK Signaling. The drugs Diclofenac and Fosaprepitant have been mentioned in the context of this disorder. Affiliated tissues include ovary, breast and ovary, and related phenotypes are abnormality of metabolism/homeostasis and breast carcinoma

Disease Ontology : 12 A female reproductive organ cancer that is located in the ovary.

NIH Rare Diseases : 53 Ovarian cancer is a form of cancer that occurs due to abnormal and uncontrolled cell growth in the ovaries. Many people with early ovarian cancer have no signs or symptoms of the condition. When present, symptoms are often nonspecific and blamed on other, more common conditions. Most cases of ovarian cancer occur sporadically in people with little to no family history of the condition; however, approximately 10-25% of ovarian cancers are thought to be "hereditary." Although the underlying genetic cause of some hereditary cases is unknown, many are part of a hereditary cancer syndrome (such as BRCA1 or BRCA2 hereditary breast and ovarian cancer syndrome, Lynch syndrome and Peutz-Jeghers syndrome) and are inherited in an autosomal dominant manner. The best treatment options for ovarian cancer depend on many factors including the subtype and stage of the condition, but may include surgery, chemotherapy, radiation therapy, and/or targeted therapy (such as monoclonal antibody therapy).

OMIM : 57 Ovarian cancer, the leading cause of death from gynecologic malignancy, is characterized by advanced presentation with loco-regional dissemination in the peritoneal cavity and the rare incidence of visceral metastases (Chi et al., 2001). These typical features relate to the biology of the disease, which is a principal determinant of outcome (Auersperg et al., 2001). Epithelial ovarian cancer is the most common form and encompasses 5 major histologic subtypes: papillary serous, endometrioid, mucinous, clear cell, and transitional cell. Epithelial ovarian cancer arises as a result of genetic alterations sustained by the ovarian surface epithelium (Stany et al., 2008; Soslow, 2008). (167000)

MedlinePlus : 43 The ovaries are part of the female reproductive system. They produce a woman's eggs and female hormones. Each ovary is about the size and shape of an almond. Cancer of the ovary is not common, but it causes more deaths than other female reproductive cancers. The sooner ovarian cancer is found and treated, the better your chance for recovery. But ovarian cancer is hard to detect early. Women with ovarian cancer may have no symptoms or just mild symptoms until the disease is in an advanced stage. Then it is hard to treat. Symptoms may include A heavy feeling in the pelvis Pain in the lower abdomen Bleeding from the vagina Weight gain or loss Abnormal periods Unexplained back pain that gets worse Gas, nausea, vomiting, or loss of appetite To diagnose ovarian cancer, doctors do one or more tests. They include a physical exam, a pelvic exam, lab tests, ultrasound, or a biopsy. Treatment is usually surgery followed by chemotherapy. NIH: National Cancer Institute

CDC : 3 Cancer is a disease in which abnormal cells in the body grow out of control. Cancer is always named for the part of the body where it starts, even if it spreads to other body parts later. Ovarian cancer is a group of diseases that originates in the ovaries, or in the related areas of the fallopian tubes and the peritoneum. Women have two ovaries that are located in the pelvis, one on each side of the uterus. The ovaries make female hormones and produce eggs. Women have two fallopian tubes that are a pair of long, slender tubes on each side of the uterus. Eggs pass from the ovaries through the fallopian tubes to the uterus. The peritoneum is the tissue lining that covers organs in the abdomen. When ovarian cancer is found in its early stages, treatment works best. Ovarian cancer often causes signs and symptoms, so it is important to pay attention to your body and know what is normal for you. Symptoms may be caused by something other than cancer, but the only way to know is to see your doctor, nurse, or other health care professional. Some mutations (changes in genes) can raise your risk for ovarian cancer. Mutations in the breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2), and those associated with Lynch syndrome, raise ovarian cancer risk. Ovarian cancers come in a variety of different tumor types. The most common tumor type is high-grade serous carcinoma, occurring in about 70% of ovarian cancer cases.

KEGG : 37
Ovarian cancer is the sixth most common cancer and the fifth leading cause of cancer-related death among women in developed countries. Approximately 90% of human ovarian cancer arises within the ovarian surface epithelium (OSE), with the rest originating from granulosa cells or, rarely, stroma or germ cells. Ovarian epithelial tumors are divided into mucinous, serous, endometrioid, and clear cell subtypes. Approximately 10% of ovarian cancers arise in women who have inherited mutations in cancer susceptibility genes (BRCA1 or BRCA2). The vast majority of ovarian cancers are sporadic, resulting from the accumulation of genetic damage over a lifetime. Several specific genes involved in ovarian carcinogenesis have been identified, including the p53 tumor suppressor gene and ERBB2 and PIK3CA oncogenes.

Novus Biologicals : 56 Tumor markers can be found in the body when cancer is present. They are most often found in the blood or urine, but can also be found in tumors and other tissues. High level of the tumor marker CA125 in the blood strongly suggests ovarian cancer. CA125 is an antigen present on 80% of non-mucinous ovarian carcinomas.

UniProtKB/Swiss-Prot : 74 Ovarian cancer: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.

Wikipedia : 75 Ovarian cancer is a cancer that forms in or on an ovary. It results in abnormal cells that have the... more...

Related Diseases for Ovarian Cancer

Diseases in the Ovarian Cancer family:

Ovarian Cancer 1 Familial Ovarian Cancer

Diseases related to Ovarian Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1300)
# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 37.4 TP53 RAD51D RAD51C PTEN PALB2 MSH6
2 ovarian cancer 1 36.8 TP53 PIK3CA KRAS ERBB2 CDH1 BRCA2
3 breast cancer 36.6 TP53 RAD51D RAD51C PTEN PIK3CA PALB2
4 pancreatic cancer 35.8 TP53 PIK3CA PALB2 KRAS ERBB2 CTNNB1
5 hereditary site-specific ovarian cancer syndrome 35.3 BRCA2 BRCA1
6 lynch syndrome 35.1 TP53 MSH6 MSH2 KRAS CTNNB1 BRCA2
7 ovarian clear cell carcinoma 34.9 TP53 PTEN PIK3CA KRAS
8 fallopian tube carcinoma 34.9 TP53 ERBB2 BRCA2 BRCA1
9 endometrial cancer 34.8 TP53 PTEN PIK3CA MSH6 MSH2 KRAS
10 ovarian disease 34.8 TP53 PTEN BRCA2 BRCA1 AKT1
11 ovary epithelial cancer 34.7 TP53 PIK3CA KRAS ERBB2 CDH1 BRCA2
12 colorectal cancer 34.5 TP53 PTEN PIK3CA MSH6 MSH2 KRAS
13 adenocarcinoma 34.2 TP53 PTEN PIK3CA KRAS ERBB2 CTNNB1
14 prostate cancer 33.9 TP53 PTEN PIK3CA KRAS ERBB2 CTNNB1
15 serous cystadenocarcinoma 33.7 TP53 PIK3CA ERBB2 AKT1
16 cervical cancer 33.6 TP53 PTEN PIK3CA ERBB2 CTNNB1 CDH1
17 ovary adenocarcinoma 33.6 TP53 PIK3CA KRAS ERBB2
18 lung cancer 33.6 TP53 PTEN PRKN PIK3CA KRAS ERBB2
19 cystadenocarcinoma 33.6 TP53 PIK3CA ERBB2 AKT1
20 lung cancer susceptibility 3 33.4 TP53 PRKN PIK3CA KRAS ERBB2 CTNNB1
21 bilateral breast cancer 33.3 PALB2 ERBB2 CHEK2 BRCA2 BRCA1 ATM
22 primary peritoneal carcinoma 33.3 TP53 ERBB2 BRCA2 BRCA1
23 sporadic breast cancer 33.2 TP53 PTEN ERBB2 CHEK2 BRCA2 BRCA1
24 fanconi anemia, complementation group a 33.2 RAD51C PALB2 FANCM BRCA2 BRCA1 ATM
25 gastric cancer 33.2 TP53 PTEN PIK3CA MSH2 KRAS ERBB2
26 female breast cancer 33.2 TP53 PALB2 ERBB2 BRCA2 BRCA1 ATM
27 esophageal cancer 33.2 TP53 PTEN PIK3CA KRAS ERBB2 CTNNB1
28 carcinosarcoma 33.1 TP53 PTEN PIK3CA KRAS ERBB2 CTNNB1
29 ovarian serous cystadenocarcinoma 33.1 TP53 PIK3CA ERBB2 AKT1
30 squamous cell carcinoma 33.1 TP53 PTEN PIK3CA ERBB2 CTNNB1 CHEK2
31 glioblastoma 33.1 TP53 PTEN PIK3CA ERBB2 BRCA2 AKT1
32 li-fraumeni syndrome 33.0 TP53 PTEN CHEK2 BRCA2 BRCA1 ATM
33 adenoma 33.0 TP53 MSH2 KRAS CTNNB1
34 brain cancer 33.0 TP53 PTEN PIK3CA MSH6 MSH2 CTNNB1
35 hepatocellular carcinoma 33.0 TP53 PTEN PIK3CA KRAS CTNNB1 CDH1
36 familial adenomatous polyposis 33.0 TP53 MSH6 MSH2 KRAS CTNNB1 CDH1
37 endometrial adenocarcinoma 32.9 TP53 PTEN KRAS ERBB2 CTNNB1 AKT1
38 large intestine cancer 32.9 TP53 PTEN PIK3CA MSH6 MSH2 KRAS
39 glioblastoma multiforme 32.9 TP53 PTEN PIK3CA ERBB2 AKT1
40 cholangiocarcinoma 32.9 TP53 PTEN PIK3CA KRAS ERBB2 CTNNB1
41 ductal carcinoma in situ 32.8 TP53 ERBB2 CDH1 BRCA2 BRCA1 AKT1
42 adenoid cystic carcinoma 32.8 TP53 PTEN PIK3CA KRAS ERBB2 CTNNB1
43 in situ carcinoma 32.8 TP53 ERBB2 CDH1 BRCA1
44 ataxia-telangiectasia 32.8 TP53 CHEK2 BRCA1 ATM
45 medulloblastoma 32.7 TP53 PTEN PIK3CA ERBB2 CTNNB1 BRCA2
46 papillary adenocarcinoma 32.6 TP53 ERBB2 CDH1
47 gallbladder cancer 32.6 TP53 PIK3CA KRAS ERBB2 CDH1 AKT1
48 sarcoma 32.6 TP53 PIK3CA KRAS CTNNB1 CHEK2
49 transitional cell carcinoma 32.5 TP53 PTEN MSH2 ERBB2 CDH1
50 colorectal adenocarcinoma 32.5 TP53 MSH6 MSH2 KRAS CTNNB1 CDH1

Comorbidity relations with Ovarian Cancer via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Fallopian Tube Carcinoma Hydronephrosis
Intestinal Obstruction Myofibroma
Neutropenia Paralytic Ileus
Peritoneum Cancer Protein-Energy Malnutrition

Graphical network of the top 20 diseases related to Ovarian Cancer:



Diseases related to Ovarian Cancer

Symptoms & Phenotypes for Ovarian Cancer

Human phenotypes related to Ovarian Cancer:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 32 HP:0001939
2 breast carcinoma 32 HP:0003002
3 dysgerminoma 32 HP:0100621
4 ovarian papillary adenocarcinoma 32 HP:0006774

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
dysgerminoma
ovarian papillary adenocarcinoma
breast cancer
ovarian cancer
serous ovarian cystadenocarcinoma

Laboratory Abnormalities:
frequent loss of heterozygosity at 6q24-q27

Clinical features from OMIM:

167000

UMLS symptoms related to Ovarian Cancer:


pelvic pain

GenomeRNAi Phenotypes related to Ovarian Cancer according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.94 KRAS PIK3CA
2 Decreased viability GR00106-A-0 10.94 KRAS
3 Decreased viability GR00221-A-1 10.94 AKT1 KRAS PIK3CA CDH1
4 Decreased viability GR00221-A-2 10.94 AKT1 BRCA1 CHEK2 KRAS PIK3CA
5 Decreased viability GR00221-A-3 10.94 AKT1 BRCA1 CHEK2 ATM ERBB2
6 Decreased viability GR00221-A-4 10.94 AKT1 CHEK2 PIK3CA ATM ERBB2
7 Decreased viability GR00301-A 10.94 BRCA1 KRAS CDH1 MSH2
8 Decreased viability GR00342-S-2 10.94 CHEK2
9 Decreased viability GR00381-A-1 10.94 KRAS
10 Decreased viability GR00402-S-2 10.94 AKT1 BRCA1 CHEK2 KRAS PIK3CA CDH1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.97 AKT1 ATM BRCA1 BRCA2 CHEK2 FANCM
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.97 AKT1 ATM BRCA1 BRCA2 CHEK2 FANCM
13 Decreased viability in esophageal squamous lineage GR00235-A 9.96 BRCA1 BRCA2 CDH1 CHEK2 CTNNB1 ERBB2
14 Decreased cell migration GR00055-A-1 9.77 AKT1 ATM CTNNB1 KRAS PIK3CA
15 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM BRCA1 BRCA2 CHEK2 FANCM MSH2
16 Increased cell death HMECs cells GR00103-A-0 9.63 BRCA1 CTNNB1 PIK3CA PTEN RAD51C TP53

MGI Mouse Phenotypes related to Ovarian Cancer:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.55 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
2 mortality/aging MP:0010768 10.45 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
3 homeostasis/metabolism MP:0005376 10.44 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
4 growth/size/body region MP:0005378 10.43 AKT1 ATM BRCA1 BRCA2 CDH1 CTNNB1
5 embryo MP:0005380 10.42 AKT1 ATM BRCA1 BRCA2 CDH1 CTNNB1
6 cardiovascular system MP:0005385 10.41 AKT1 ATM BRCA1 CDH1 CTNNB1 ERBB2
7 endocrine/exocrine gland MP:0005379 10.41 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
8 integument MP:0010771 10.39 AKT1 ATM BRCA1 BRCA2 CDH1 CTNNB1
9 behavior/neurological MP:0005386 10.38 AKT1 ATM BRCA1 BRCA2 CTNNB1 ERBB2
10 immune system MP:0005387 10.34 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
11 neoplasm MP:0002006 10.34 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
12 hematopoietic system MP:0005397 10.33 AKT1 ATM BRCA1 BRCA2 CHEK2 CTNNB1
13 nervous system MP:0003631 10.28 AKT1 ATM BRCA1 BRCA2 CHEK2 CTNNB1
14 digestive/alimentary MP:0005381 10.24 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2 KRAS
15 limbs/digits/tail MP:0005371 10.15 BRCA1 BRCA2 CTNNB1 ERBB2 KRAS PALB2
16 muscle MP:0005369 10.11 AKT1 BRCA1 CTNNB1 ERBB2 KRAS PIK3CA
17 normal MP:0002873 10.02 AKT1 BRCA1 BRCA2 CDH1 CTNNB1 ERBB2
18 no phenotypic analysis MP:0003012 9.97 CDH1 CTNNB1 FANCM KRAS OPCML PIK3CA
19 reproductive system MP:0005389 9.97 AKT1 ATM BRCA1 BRCA2 CDH1 CTNNB1
20 pigmentation MP:0001186 9.65 BRCA1 CTNNB1 KRAS PTEN TP53
21 respiratory system MP:0005388 9.56 AKT1 BRCA1 CTNNB1 ERBB2 KRAS PRKN
22 skeleton MP:0005390 9.32 AKT1 BRCA1 BRCA2 CTNNB1 ERBB2 KRAS

Drugs & Therapeutics for Ovarian Cancer

Drugs for Ovarian Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 612)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
2
Fosaprepitant Approved Phase 4 172673-20-0 219090
3
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
4
Ferrous fumarate Approved Phase 4 141-01-5
5
tannic acid Approved Phase 4 1401-55-4
6
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
7
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
10
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Remifentanil Approved Phase 4 132875-61-7 60815
13
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
14
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
15
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
16
Vitamin C Approved, Nutraceutical Phase 4 50-81-7 54670067 5785
17
Tyrosine Approved, Investigational, Nutraceutical Phase 4 60-18-4 6057
18
Apatinib Phase 4 811803-05-1
19 Progestins Phase 4
20 neurokinin A Phase 4
21 Neurokinin-1 Receptor Antagonists Phase 4
22
Substance P Phase 4 33507-63-0 44359816
23 Follicle Stimulating Hormone Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Analgesics Phase 4
26 Anesthetics, Local Phase 4
27 Central Nervous System Depressants Phase 4
28 Platelet Aggregation Inhibitors Phase 4
29 Hypnotics and Sedatives Phase 4
30 Anesthetics, General Phase 4
31 Anesthetics, Intravenous Phase 4
32 Anesthetics, Inhalation Phase 4
33
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
34
Hydralazine Approved Phase 3 86-54-4 3637
35
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
36
Epirubicin Approved Phase 3 56420-45-2 41867
37
Ethanol Approved Phase 3 64-17-5 702
38
Alvimopan Approved, Investigational Phase 3 156053-89-3 5488548
39
Naltrexone Approved, Investigational, Vet_approved Phase 3 16590-41-3 5360515
40
Topotecan Approved, Investigational Phase 2, Phase 3 123948-87-8, 119413-54-6 60700
41
Goserelin Approved Phase 3 65807-02-5, 1233494-97-7 47725 5311128
42
Atorvastatin Approved Phase 3 134523-00-5 60823
43
Tranexamic Acid Approved Phase 3 1197-18-8 5526
44
Mebendazole Approved, Vet_approved Phase 3 31431-39-7 4030
45
Ibuprofen Approved Phase 3 15687-27-1 3672
46
Doxycycline Approved, Investigational, Vet_approved Phase 3 564-25-0 54671203
47
Piperazine Approved, Vet_approved Phase 3 110-85-0 4837
48
Procarbazine Approved, Investigational Phase 3 671-16-9 4915
49
Lomustine Approved, Investigational Phase 3 13010-47-4 3950
50
Bleomycin Approved, Investigational Phase 3 11056-06-7 5360373

Interventional clinical trials:

(show top 50) (show all 2300)
# Name Status NCT ID Phase Drugs
1 A MULTICENTER STUDY IN PATIENTS WITH STAGE III-IV EPITHELIAL OVARIAN CANCER TREATED WITH CARBOPLATIN/PACLITAXEL WITH BEVACIZUMAB: CLINICAL AND BIOLOGICAL PROGNOSTIC FACTORS Unknown status NCT01706120 Phase 4 Bevacizumab;Paclitaxel;Carboplatin
2 Influence of Gum Chewing on Postoperative Bowel Activity After Complete Staging Surgery for Gynecological Malignancies Unknown status NCT01835119 Phase 4 gum
3 In Vivo Inhibition Profile of CYP2C9 by Pineapple Juice Unknown status NCT01649492 Phase 4
4 Pharmacokinetics of Carboplatin After Adjusted Dosing for High BMI, Low Serum Creatinine, and Maximal Renal Function Unknown status NCT02103244 Phase 4 Carboplatin
5 Tumor Gene Expression Before and After Intraoperative Dexamethasone in Women With Ovarian Cancer Completed NCT00817479 Phase 4 Dexamethasone;Placebo
6 Obligatory Post-Registration Open-Label, Non-Comparative Multicenter Study of Efficacy and Tolerance Rate of Caelyx as Monotherapy in Patients With Epithelial Ovarian Cancer, Resistant to Previous Platinum Therapy. Completed NCT00727961 Phase 4 Pegylated Liposomal Doxorubicin hydrochloride
7 The Multi-center,Open-label,Single Arm Phase IV Clinical Trial of Efficacy and Safety of PEG-rhG-CSF in Patients With Lung Cancer,Head and Neck Cancer,Colorectal Cancer,Ovarian Cancer and the Other Cancer Receiving Chemotherapy Completed NCT02805166 Phase 4 PEG-rhG-CSF
8 Tranexamic Acid in Surgery of Advanced Ovarian Cancer - a Prospective Randomized Double Blind Placebo Controlled Study Completed NCT00740116 Phase 4 Tranexamic acid;0.9% NaCl solution
9 Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot Study Completed NCT02562170 Phase 4
10 A Phase IV Study Comparing the Efficacy of Fosaprepitant to Aprepitant for Chemotherapy Induced Nausea and Vomiting in Patients Treated for Gynecological Cancer Completed NCT01432015 Phase 4 fosaprepitant;aprepitant
11 Whether 18F-ALF-NOTA-PRGD2 PET/CT Scan Can Predict the Efficacy and Adverse Events of Apatinib in Patients With Malignancies. Completed NCT03384511 Phase 4 Apatinib
12 A Phase IV, Open-label, Post Marketing, Prospective, Randomized, Controlled, Multicentre, Multinational Study to Investigate Tailoring of Recombinant FSH Use in Ovulation Stimulation Treatment in Chronic Anovulatory Subjects (WHO Group II) Completed NCT01081626 Phase 4 Recombinant FSH (follitropin alpha)
13 Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib in Maintenance After Platine-based Chemotherapy for Patients With Ovarian Cancer Late Relapse : the French GINECO - NiQoLe Study Recruiting NCT03752216 Phase 4 Niraparib
14 Diaphragmatic Resection And Gynecological Ovarian Neoplasm Recruiting NCT03543462 Phase 4
15 A Clinical Study Investigating Adverse Drug Reactions and Their Biomarker Correlations in Stage IV Cancer Patients Following Individualized Therapy of Apatinib Recruiting NCT03475589 Phase 4 apatinib
16 The Efficacy and Safety of Secondary Prophylaxis Versus ANC< 1000/mm3 Administration of PEG-rhG-CSF in Patients Receiving Cytotoxic Chemotherapy for Gynecologic Malignancies Recruiting NCT03858166 Phase 4 PEG-rhG-CSF
17 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4 Biomarker guided weekly taxane treatment in endometrial/ ovarian cancer
18 An Open Label, Single Arm, Multicentre Study to Assess the Clinical Effectiveness and Safety of Lynparza (Olaparib) Capsules Maintenance Monotherapy in Platinum Sensitive Relapsed Somatic or Germline BRCA Mutated Ovarian Cancer Patients Who Are in Complete or Partial Response Following Platinum Based Chemotherapy (ORZORA). Active, not recruiting NCT02476968 Phase 4 Olaparib
19 A Randomized Controlled Trial of Pre-Operative Treatment With Ferrous Fumarate 300 mg Once Daily Versus Placebo in Newly Diagnoses Gynecologic Oncology Patients Who Are Primary Surgical Candidates. Active, not recruiting NCT01953107 Phase 4
20 Impact of Inhalational Versus Intravenous Anesthesia Maintenance Methods on Long-term Survival Rate in Elderly Patients After Cancer Surgery: an Open-label, Randomized Controlled Trial Active, not recruiting NCT02660411 Phase 4 Sevoflurane;Propofol
21 Evaluation of PEGylated Doxorubicin Hydrochloride Liposome Injection(Duomeisu®) Combined With Carboplatin Versus Paclitaxel Plus Carboplatin in the First-line Treatment of Epithelial Ovarian Cancer: A Randomized, Open, Multicenter Clinical Study Not yet recruiting NCT03794778 Phase 4 pegylated liposomal doxorubicin;paclitaxel;Carboplatin
22 A Single Arm, Multi-center Study to Assess the Efficacy and Safety of Docetaxel Combined With Carboplatin Plus Anlotinib as First Line Treatment in Non-squamous Non-small-cell Lung Cancer (NSCLC) Not yet recruiting NCT03799601 Phase 4 Anlotinib;Docetaxel;Carboplatin
23 Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment Terminated NCT02035345 Phase 4 Carboplatin
24 Contrast Enhanced Diffusion-weighted Magnetic Resonance Imaging for Detection of Pathologic Lymph Nodes in Ovarian Cancer - a Feasibility Study. Withdrawn NCT02243059 Phase 4 Gadofosveset trisodium (Ablavar™ )
25 Phase II GENIUS Trial of GENetically-Informed Therapies for Patients With previoUSly Treated Refractory Metastatic Cancer Withdrawn NCT02000739 Phase 4
26 Neoadjuvant Chemotherapy (NACT) Followed by Interval Debulking Surgery vs Upfront Surgery Followed by Chemotherapy (CT) in Advanced Epithelial Ovarian Carcinoma (EOC): A Prospective Randomized Study Unknown status NCT00715286 Phase 3
27 An International Phase III Randomised Trial of Dose Fractionated Chemotherapy Compared to Standard Three Weekly Chemotherapy, Following Immediate Primary Surgery or as Part of Delayed Primary Surgery, for Women With Newly Diagnosed Epithelial Ovarian, Fallopian Tube or Primary Peritoneal Cancer Unknown status NCT01654146 Phase 3 Carboplatin;Carboplatin;Paclitaxel;Paclitaxel
28 The Phase II Study of Intraoperative Hyperthermic Intraperitoneal Chemotherapy Followed by Intravenous Chemotherapy in Patients With Ovarian Cancer Unknown status NCT01091636 Phase 2, Phase 3
29 A Randomised, Placebo-controlled, Trial of Concurrent Cediranib [AZD2171] (With Platinum-based Chemotherapy) and Concurrent and Maintenance Cediranib in Women With Platinum-sensitive Relapsed Ovarian Cancer Unknown status NCT00532194 Phase 3 cediranib
30 Phase III Randomized Multicentre Trial of Carboplatin + Liposomal Doxorubicin vs Carboplatin + Paclitaxel in Patients With Ovarian Cancer Unknown status NCT00326456 Phase 3 liposomal doxorubicin;carboplatin;paclitaxel
31 Multicenter Phase III Randomized Study With Second Line Chemotherapy Plus or Minus Bevacizumab in Patients With Platinum Sensitive Epithelial Ovarian Cancer Recurrence After a Bevacizumab/Chemotherapy First Line Unknown status NCT01802749 Phase 3 Bevacizumab;Paclitaxel;Carboplatin;pegylated liposomal doxorubicin;Gemcitabine
32 Randomized Phase III Trial of Conventional Paclitaxel and Carboplatin Versus Dose Dense Weekly Paclitaxel and Carboplatin in Patients With Newly Diagnosed Stage II-IV Mullerian Carcinoma Unknown status NCT00226915 Phase 3 Paclitaxel+Carboplatin;Paclitaxel+Carboplatin
33 Phase III Randomized Study of Adjuvant Therapy With a Platinum-Containing Regimen (e.g., CBDCA or CAP: CTX/DOX/CDDP) vs No Adjuvant Therapy in Patients With Fully Resected Early Stage Ovarian Cancer Unknown status NCT00002477 Phase 3 carboplatin;cisplatin;cyclophosphamide;doxorubicin hydrochloride
34 A Randomized Prospective Study of Scheduled Intravenous Ramosetron for the Prevention of Nausea and Vomiting in Hospitalized Patients After Gynecologic Laparoscopy Unknown status NCT02011659 Phase 3 Ramosetron
35 Multicenter Randomized Survival Study of Monoclonal Antibody Radioimmunotherapy: A Multinational Study in Patients With Ovarian Carcinoma Using the HMFG1 Antibody Labeled With 90Yttrium Unknown status NCT00004115 Phase 3
36 Randomized, Double-Blind, Phase III Trial of Chemotherapy Plus the Transcriptional Therapy Hydralazine and Magnesium Valproate Versus Chemotherapy Plus Placebo in Cisplatin-Resistant Recurrent Ovarian Cancer. Unknown status NCT00533299 Phase 3 Hydralazine and magnesium valproate;Placebo
37 Weekly Versus Every 3 Week Carboplatin and Paclitaxel in Patients With Ovarian Cancer: a Phase III Randomized Multicenter Study Unknown status NCT00660842 Phase 3 paclitaxel;carboplatin;paclitaxel
38 Liposomal Doxorubicin Versus Carboplatin/Paclitaxel in Patients With Ovarian Cancer Recurrence Between 6 and 12 Months After Previous Platinum Based Therapy: Phase III Randomized Multicenter Study Amendment Title Protocol Version 2.0: Phase III International Multicenter Randomized Study Testing the Effect on Survival of Prolonging Platinum-free Interval in Patients With Ovarian Cancer Recurring Between 6 and 12 Months After Previous Platinum Based Chemotherapy. Unknown status NCT00657878 Phase 3 stealth liposomal doxorubicin;carboplatin;paclitaxel;Topotecan;Gemcitabine
39 Phase 3 Study of Lobaplatin,5-Fluorouracil and Leucovorin for the Treatment of Recurrent or Metastatic Esophageal Carcinoma Unknown status NCT01034683 Phase 3 lobaplatin , 5-FU ,leucovorin
40 Stage IIIC Unresectable Epithelial Ovarian/Tubal Cancer With Partial or Complete Response After 1st Line Neoadjuvant Chemotherapy (3 Cycles CBDCA+Paclitaxel): a Phase 3 Prospective Randomized Study Comparing Cytoreductive Surgery + Hyperthermic Intraperitoneal Chemotherapy (CDDP+Paclitaxel) + 3 Cycles CBDCA+Paclitaxel vs Cytoreductive Surgery Alone + 3 Cycles CBDCA+Paclitaxel. Unknown status NCT01628380 Phase 3
41 A Randomized Phase II/III Trial Comparing Carboplatin-Ifosfamide (IC)-Chemotherapy Vs. IC-Chemotherapy Combined With Extreme Whole Body Hyperthermia In Patients With Recurrence Of Epithelial Ovarian Carcinoma: DOLPHIN-1-STUDY Unknown status NCT00045461 Phase 2, Phase 3 carboplatin;ifosfamide
42 A Randomized Phase III Trial of Paclitaxel Plus Carboplatin Versus Ifosfamide Plus Paclitaxel in Chemotherapy-Naive Patients With Newly Diagnosed Stage I-IV, Persistent or Recurrent Carcinosarcoma (Mixed Mesodermal Tumors) of the Uterus, Fallopian Tube, Peritoneum or Ovary Unknown status NCT00954174 Phase 3 Carboplatin;Ifosfamide;Paclitaxel
43 A Phase III Trial of Adjuvant Chemotherapy Following Chemoradiation as Primary Treatment for Locally Advanced Cervical Cancer Compared to Chemoradiation Alone: The OUTBACK Trial Unknown status NCT01414608 Phase 3 Carboplatin;Cisplatin;Paclitaxel
44 Long Term Outcomes After EUS-guided Ablation for Cystic Tumors of the Pancreas Unknown status NCT00689715 Phase 2, Phase 3
45 Intravenous Versus Oral Regimens of Dexamethasone for Prophylaxis of Paclitaxel-associated Hypersensitivity Reaction in Primary Ovarian, Fallopian Tube and Peritoneal Cancer Patients: a Double-blind Randomized Controlled Trial Unknown status NCT02349763 Phase 3 Intravenous Dexamethasone;Oral Dexamethasone
46 A Phase 3 Study of Safety and Efficacy of Karenitecin Versus Topotecan Administered for 5 Consecutive Days Every 3 Weeks in Patients With Advanced Epithelial Ovarian Cancer Completed NCT00477282 Phase 3 Karenitecin;Topotecan
47 A Randomized Phase III Study Comparing Gemcitabine Plus Carboplatin Versus Carboplatin Monotherapy in Patients With Advanced Epithelial Ovarian Carcinoma Who Failed First-Line Platinum-Based Therapy Completed NCT00102414 Phase 3 Gemcitabine
48 Early Post-Operative Enteral Feeding in Patients With Advanced Epithelial Ovarian Cancer Completed NCT00850772 Phase 3
49 A Phase III Randomized Trial of Intravenous Paclitaxel and Cisplatin Versus Intravenous Paclitaxel, Intraperitoneal Cisplatin and Intraperitoneal Paclitaxel in Patients With Optimal Stage III Epithelial Ovarian Carcinoma or Primary Peritoneal Carcinoma Completed NCT00003322 Phase 3 cisplatin;paclitaxel
50 A Randomized, Parallel Group, Open-label, Active Controlled, Multicenter Phase III Trial of Patupilone (EPO906) Versus Pegylated Liposomal Doxorubicin in Taxane/Platinum Refractory/Resistant Patients With Recurrent Epithelial Ovarian, Primary Fallopian or Primary Peritoneal Cancer Completed NCT00262990 Phase 3 EPO906 (Patupilone);doxorubicin

Search NIH Clinical Center for Ovarian Cancer

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Altretamine
Altretamine
Bleomycin
Carboplatin
Chlorambucil
Chromic phosphate P32
Cisplatin
CISPLATIN PWDR
Cyclophosphamide
Dactinomycin
docetaxel
Doxorubicin
doxorubicin hydrochloride liposome
Etoposide
hydroxyurea
Ifosfamide
Ifosfamide
Irinotecan
Leuprolide
Leuprolide Acetate
Melphalan
Melphalan hydrochloride
Paclitaxel
Paclitaxel
Pemetrexed
Tamoxifen
Topotecan
Topotecan Hydrochloride
Uracil Mustard
vinorelbine
Vinorelbine tartrate

Cochrane evidence based reviews: ovarian neoplasms

Genetic Tests for Ovarian Cancer

Genetic tests related to Ovarian Cancer:

# Genetic test Affiliating Genes
1 Neoplasm of Ovary 29 AKT1 CDH1 CTNNB1 OPCML PIK3CA PRKN
2 Ovarian Cancer 29

Anatomical Context for Ovarian Cancer

The Foundational Model of Anatomy Ontology organs/tissues related to Ovarian Cancer:

19
Ovary

MalaCards organs/tissues related to Ovarian Cancer:

41
Breast, Ovary, Testes, T Cells, Lung, Lymph Node, Prostate

Publications for Ovarian Cancer

Articles related to Ovarian Cancer:

(show top 50) (show all 41504)
# Title Authors PMID Year
1
OPCML at 11q25 is epigenetically inactivated and has tumor-suppressor function in epithelial ovarian cancer. 38 8 71
12819783 2003
2
Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27. 8 71
12719539 2003
3
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. 9 38 8
19635727 2010
4
Role of K-ras and Pten in the development of mouse models of endometriosis and endometrioid ovarian cancer. 9 38 8
15619626 2005
5
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 9 38 8
11179017 2001
6
The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study. 9 38 8
10577927 1999
7
DOC-2, a candidate tumor suppressor gene in human epithelial ovarian cancer. 9 38 8
9620555 1998
8
Whole-genome characterization of chemoresistant ovarian cancer. 38 8
26017449 2015
9
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. 38 71
23188549 2013
10
Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. 38 71
22964825 2012
11
Mutations in BRIP1 confer high risk of ovarian cancer. 38 8
21964575 2011
12
Integrated genomic analyses of ovarian carcinoma. 38 8
21720365 2011
13
MiR-221 and MiR-222 alterations in sporadic ovarian carcinoma: Relationship to CDKN1B, CDKNIC and overall survival. 9 38 88
20461750 2010
14
Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. 38 8
19304784 2009
15
Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. 38 8
19270026 2009
16
Dicer, Drosha, and outcomes in patients with ovarian cancer. 38 8
19092150 2008
17
Histologic subtypes of ovarian carcinoma: an overview. 38 8
18317227 2008
18
Classification of ovarian cancer: a genomic analysis. 38 8
18546616 2008
19
The E-cadherin repressor Snail is associated with lower overall survival of ovarian cancer patients. 38 8
18026186 2008
20
MicroRNA expression profiling in human ovarian cancer: miR-214 induces cell survival and cisplatin resistance by targeting PTEN. 9 38 88
18199536 2008
21
Hypermethylation of let-7a-3 in epithelial ovarian cancer is associated with low insulin-like growth factor-II expression and favorable prognosis. 9 38 88
17974952 2007
22
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer. 9 71
17611497 2007
23
Mutation of the PIK3CA gene in ovarian and breast cancer. 9 71
15520168 2004
24
Alterations in the common fragile site gene Parkin in ovarian and other cancers. 9 8
14614460 2003
25
Identification of prognostic factors in advanced epithelial ovarian carcinoma. 38 8
11520151 2001
26
Chromosome 11q22.3-q25 LOH in ovarian cancer: association with a more aggressive disease course and involved subregions. 38 8
9826475 1998
27
Is hereditary site-specific ovarian cancer a distinct genetic condition? 38 8
9450858 1998
28
A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3. 38 8
8603384 1996
29
Definition and refinement of a region of loss of heterozygosity at 11q23.3-q24.3 in epithelial ovarian cancer associated with poor prognosis. 38 8
8640783 1996
30
A common region of deletion on chromosome 17q in both sporadic and familial epithelial ovarian tumors distal to BRCA1. 9 8
7942844 1994
31
A human oncogene of the RAS superfamily unmasked by expression cDNA cloning. 38 71
8052619 1994
32
Molecular cloning of differentially expressed genes in human epithelial ovarian cancer. 38 8
8314147 1994
33
Fine-scale deletion mapping of the distal long arm of chromosome 6 in 70 human ovarian cancers. 38 8
1394208 1992
34
Allele losses on chromosome 17 in human epithelial ovarian carcinoma. 38 8
2250917 1990
35
An oncogenic chromosome 8-9 gene fusion isolated following transfection of human ovarian carcinoma cell line DNA. 38 8
1973829 1990
36
Cytogenetic studies in ovarian cancer. 38 8
6690026 1984
37
Familial ovarian carcinoma. 38 8
4320145 1970
38
Familial ovarian cancer. 38 8
4184107 1969
39
Diagnostic significance assessment of the circulating cell-free DNA in ovarian cancer: An updated meta-analysis. 38 17
31330238 2019
40
PIK3CA(H1047R) induces multipotency and multi-lineage mammary tumours. 71
26266975 2015
41
Reactivation of multipotency by oncogenic PIK3CA induces breast tumour heterogeneity. 71
26266985 2015
42
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
43
Ovarian surface epithelium at the junction area contains a cancer-prone stem cell niche. 8
23467088 2013
44
Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. 71
23100325 2013
45
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. 71
22658544 2012
46
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 71
22729223 2012
47
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 71
22729224 2012
48
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 71
22729222 2012
49
A mosaic activating mutation in AKT1 associated with the Proteus syndrome. 71
21793738 2011
50
Frequent mutations of chromatin remodeling gene ARID1A in ovarian clear cell carcinoma. 8
20826764 2010

Variations for Ovarian Cancer

ClinVar genetic disease variations for Ovarian Cancer:

6 (show top 50) (show all 712)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TP53 NM_000546.5(TP53): c.832C> A (p.Pro278Thr) single nucleotide variant Likely pathogenic,drug response rs17849781 17:7577106-7577106 17:7673788-7673788
2 FANCM NM_020937.4(FANCM): c.5101C> T (p.Gln1701Ter) single nucleotide variant Likely pathogenic,risk factor rs147021911 14:45658326-45658326 14:45189123-45189123
3 BRCA1 NM_007294.3(BRCA1): c.2209del (p.Thr737fs) deletion Pathogenic rs1060502333 17:41245339-41245339 17:43093322-43093322
4 TP53 NM_000546.5(TP53): c.517G> T (p.Val173Leu) single nucleotide variant Pathogenic rs876660754 17:7578413-7578413 17:7675095-7675095
5 ATM NM_000051.3(ATM): c.3214G> T (p.Glu1072Ter) single nucleotide variant Pathogenic rs1060501687 11:108143509-108143509 11:108272782-108272782
6 RAD51C NM_058216.3(RAD51C): c.525dup (p.Cys176fs) duplication Pathogenic rs768793789 17:56774174-56774174 17:58696813-58696813
7 PIK3CA NM_006218.4(PIK3CA): c.1093G> A (p.Glu365Lys) single nucleotide variant Pathogenic rs1064793732 3:178922324-178922324 3:179204536-179204536
8 TP53 NM_000546.5(TP53): c.818G> T (p.Arg273Leu) single nucleotide variant Pathogenic rs28934576 17:7577120-7577120 17:7673802-7673802
9 RAD51D NM_002878.3(RAD51D): c.576+1G> A single nucleotide variant Pathogenic rs781161543 17:33433404-33433404 17:35106385-35106385
10 PTEN NM_000314.7(PTEN): c.1027-1G> A single nucleotide variant Pathogenic rs1057517809 10:89725043-89725043 10:87965286-87965286
11 TP53 NM_000546.5(TP53): c.626_627del (p.Arg209fs) deletion Pathogenic rs1057517840 17:7578222-7578223 17:7674904-7674905
12 PTEN NM_000314.7(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic rs121909224 10:89692904-89692904 10:87933147-87933147
13 TP53 NM_000546.5(TP53): c.841G> A (p.Asp281Asn) single nucleotide variant Pathogenic rs764146326 17:7577097-7577097 17:7673779-7673779
14 PTEN NM_000314.7(PTEN): c.740T> G (p.Leu247Ter) single nucleotide variant Pathogenic rs1057519368 10:89717715-89717715 10:87957958-87957958
15 TP53 NM_000546.5(TP53): c.1024del (p.Arg342fs