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Results: 1 to 20 of 45

1.

BRCA2 gene mutation

A mutation that is typically a heritable, permanent change in the nucleotide sequence of the BRCA2 gene. Single nucleotide substitutions and small deletions or insertions (1-20 bases) account for the majority of mutations in the BRCA2 gene. Most of these alterations result in a truncated form of the breast cancer type 2 susceptibility protein. Mutations in the BRCA2 gene predispose males to breast cancer. [from NCI]

MedGen UID:
267020
Concept ID:
C1511024
Cell or Molecular Dysfunction
2.

P-2

MedGen UID:
114772
Concept ID:
C0608663
Pharmacologic Substance
3.

Progesterone

a type of female sex hormone [from CHV]

MedGen UID:
18661
Concept ID:
C0033308
Pharmacologic Substance
4.

Malignant neoplastic disease

A general term for autonomous tissue growth exhibiting morphologic features of malignancy (e.g. severe atypia, nuclear pleomorphism, tumor cell necrosis, abnormal mitoses, tissue invasiveness) and for which the transformed cell type has not been specifically identified. [from NCI]

MedGen UID:
14297
Concept ID:
C0006826
Neoplastic Process
5.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
6.

Malignant tumor of breast

A primary or metastatic malignant neoplasm involving the breast. The vast majority of cases are carcinomas arising from the breast parenchyma or the nipple. Malignant breast neoplasms occur more frequently in females than in males. [from NCI]

MedGen UID:
651
Concept ID:
C0006142
Neoplastic Process
7.

Carrier status

MedGen UID:
623027
Concept ID:
C0449439
Finding
8.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
9.

Breast carcinoma

The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601). [from HPO]

MedGen UID:
428324
Concept ID:
CN002714
Finding
10.

Neoplasm of breast

Tumors or cancer of the human BREAST. [from MeSH]

MedGen UID:
264172
Concept ID:
C1458155
Neoplastic Process
11.

Malignant tumor of ovary

A primary or metastatic malignant tumor involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas. [from NCI]

MedGen UID:
216027
Concept ID:
C1140680
Neoplastic Process
12.

Neoplasm of ovary

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). [from OMIM]

MedGen UID:
181539
Concept ID:
C0919267
Neoplastic Process
13.

Estrogens

A class of natural or synthetic hormones that binds to a cytoplasmic receptor and initiates translocation of the hormone-receptor complex to the nucleus of target cells of tissues rich in estrogen receptors, including the endometrium, myometrium, oviduct, vagina, fallopian tube, cervix, brain, liver, placenta, ovarian cells, Leydigs cells, kidney, prostate, pancreas, heart, and skin. (NCI) [from NCI]

MedGen UID:
8701
Concept ID:
C0014939
Pharmacologic Substance
14.

Female Urogenital Diseases

Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE). [from MeSH]

MedGen UID:
318599
Concept ID:
C1720887
Disease or Syndrome
15.

Female Urogenital Diseases and Pregnancy Complications

Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY. [from MeSH]

MedGen UID:
318565
Concept ID:
C1720765
Disease or Syndrome
16.

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
17.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
18.

Abnormality of the ovary

A non-neoplastic or neoplastic disorder that affects the ovary. Representative examples of non-neoplastic disorders include endometriosis and polycystic ovarian disease. Representative examples of neoplastic disorders include ovarian surface epithelial-stromal tumors, germ cell tumors, and sex cord-stromal tumors. [from NCI]

MedGen UID:
45256
Concept ID:
C0029928
Disease or Syndrome
19.

Genitourinary neoplasm

Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female. [from MeSH]

MedGen UID:
22583
Concept ID:
C0042065
Neoplastic Process
20.

Pathological Conditions, Signs and Symptoms

Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. [from MeSH]

MedGen UID:
21047
Concept ID:
C0039058
Sign or Symptom

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