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Items: 8

1.

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

MedGen UID:
864405
Concept ID:
C4015968
Finding
2.

Pancreatic cancer 2

MedGen UID:
461896
Concept ID:
C3150546
Finding
3.

Glioma susceptibility 3

MedGen UID:
442777
Concept ID:
C2751641
Finding
4.

Breast-ovarian cancer, familial 2

BRCA1- and BRCA2-associated hereditary breast and ovarian cancer syndrome (HBOC) is characterized by an increased risk for female and male breast cancer, ovarian cancer (includes fallopian tube and primary peritoneal cancers), and to a lesser extent other cancers such as prostate cancer, pancreatic cancer, and melanoma primarily in individuals with a BRCA2 pathogenic variant. The exact cancer risks differ slightly depending on whether HBOC is caused by a BRCA1 or BRCA2 pathogenic variant. [from GTR]

MedGen UID:
382625
Concept ID:
C2675520
Finding
5.

Fanconi anemia, complementation group D1

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, gastrointestinal tract, and genitourinary tract – are more common in individuals with FA. [from GTR]

MedGen UID:
325420
Concept ID:
C1838457
Disease or Syndrome
6.

Malignant tumor of prostate

A cancer of the prostate. [from HPO]

MedGen UID:
138169
Concept ID:
C0376358
Neoplastic Process
7.

Nephroblastoma

A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. [from MeSH]

MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
8.

Medulloblastoma

Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007). [from GTR]

MedGen UID:
7517
Concept ID:
C0025149
Neoplastic Process
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