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Items: 5

1.

pancreatic cancer susceptibility

MedGen UID:
854015
Concept ID:
C3469525
Finding
2.

Mental retardation, autosomal dominant 16

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). [from OMIM]

MedGen UID:
766163
Concept ID:
C3553249
Disease or Syndrome
3.

Pancreatic cancer 4

MedGen UID:
482072
Concept ID:
C3280442
Finding; Neoplastic Process
4.

Rhabdoid tumor predisposition syndrome 2

Rhabdoid tumor predisposition syndrome-2 is an autosomal dominant cancer predisposition syndrome characterized by the onset in infancy, childhood, or young adulthood of various poorly differentiated tumors. Classically, tumors that arise in the central nervous system are referred to as atypical teratoid/rhabdoid tumors, whereas those arising in the kidney or other extracranial sites are referred to as malignant rhabdoid tumors. Tumors may also present as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), also known as malignant rhabdoid tumor of the ovary (MRTO). All of these tumors are highly aggressive and often fatal (summary by Foulkes et al., 2014). See also RTPS1 (609322), which is caused by mutation in the SMARCB1 gene (601607) on chromosome 22q11. [from OMIM]

MedGen UID:
413749
Concept ID:
C2750074
Disease or Syndrome
5.

Breast-ovarian cancer, familial 1

Hereditary breast and ovarian cancer syndrome (HBOC), caused by a germline pathogenic variant in BRCA1 or BRCA2, is characterized by an increased risk for breast cancer, ovarian cancer, prostate cancer, and pancreatic cancer. The lifetime risk for these cancers in individuals with a pathogenic variant in BRCA1 or BRCA2: 40%-80% for breast cancer. 11%-40% for ovarian cancer. 1%-10% for male breast cancer. Up to 39% for prostate cancer. 1%-7% for pancreatic cancer. Individuals with BRCA2 pathogenic variants may also be at an increased risk for melanoma. Prognosis for BRCA1/2-related cancer depends on the stage at which the cancer is diagnosed; however, studies on survival have revealed conflicting results for individuals with germline BRCA1 or BRCA2 pathogenic variants when compared to controls. [from GeneReviews]

MedGen UID:
382914
Concept ID:
C2676676
Finding
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