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Items: 3

1.

Basal cell carcinoma, susceptibility to, 1

Cutaneous basal cell carcinoma (BCC) is the most common cancer among people of European ancestry (Stacey et al., 2009). The primary environmental risk factor for BCC is sun exposure, but genetics also has a substantial role. Some of the sequence variants that confer susceptibility seem to operate through their association with fair-pigmentation traits common among Europeans, resulting in reduced protection from the damaging effects of ultraviolet (UV) radiation. Other sequence variants have no obvious role in pigmentation or UV susceptibility but instead seem to operate in the contexts of growth and differentiation of the basal layers of the skin (Stacey et al., 2008; Epstein, 2008; Gudbjartsson et al., 2008; Rafnar et al., 2009). See ASIP (600201), TYR (606933), and SHEP5 (227240) for examples of basal cell carcinoma associated with fair skin or sensitivity to sun. Basal cell carcinoma occurs as a feature of multiple syndromes, including basal cell nevus syndrome (BCNS; 109400), Bazex syndrome (301845), Rombo syndrome (180730), Brooke-Spiegler syndrome (605041), Muir-Torre syndrome (158320), and xeroderma pigmentosum (see 278700). Abnormalities in the Hedgehog signaling pathway are found in basal cell carcinomas; see SHH (600725) and SMOH (601500). Genetic Heterogeneity of Susceptibility to Basal Cell Carcinoma Susceptibility to basal cell carcinoma is a genetically heterogeneous trait. The BCC1 locus maps to chromosome 1p36. Also see BCC2 (613058) on 1q42; BCC3 (613059) on 5p15; BCC4 (613061) on 12q13; BCC5 (613062) on 9p21; and BCC6 (613063) on 7q32. Variation in the 3-prime untranslated region of TP53 (191170) increases susceptibility to basal cell carcinoma (BCC7; 614740). Somatic mutation contributing to the formation of basal cell carcinoma has been identified in the RASA1 (139150), PTCH1 (601309), and PTCH2 (603673) genes. [from OMIM]

MedGen UID:
414403
Concept ID:
C2751544
Finding
2.

Holoprosencephaly 7

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). [from OMIM]

MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
3.

Gorlin syndrome

Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have a recognizable appearance with macrocephaly, frontal bossing, coarse facial features, and facial milia. Most individuals have skeletal anomalies (e.g., bifid ribs, wedge-shaped vertebrae). Ectopic calcification, particularly in the falx, is present in more than 90% of affected individuals by age 20 years. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor), generally the desmoplastic subtype. The risk of developing medulloblastoma is substantially higher in individuals with an SUFU pathogenic variant (33%) than in those with a PTCH1 pathogenic variant (<2%). Peak incidence is at age one to two years. Life expectancy in NBCCS is not significantly different from average. [from GeneReviews]

MedGen UID:
2554
Concept ID:
C0004779
Neoplastic Process
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