CitationYarbrough, Wendell G.; Aprelikova, Olga; Pei, Hong; Olshan, Andrew F.; & Liu, Edison T. (1996). Familial Tumor Syndrome Associated with a Germline Nonfunctional p16. Journal of the National Cancer Institute, 88(20), 1489-1491.
AbstractDefects in the pl6INK4a tumor suppressor gene (also known as pl6 or CDKN2) are associated with a host of somatic tumors and with familial tumors, including melanoma and pancreatic cancer (1-3). Anecdotal reports of melanoma kindreds suggest that germline mutations in pi6 may also be associated with an inherited predisposition to head and neck squamous cell carcinomas (HNSCCs) (4j). The role of pi6 defects in the genesis of head and neck tumors in melanoma kindreds remains implied because one of the two prior reports predates the discovery of pi6, and the other, while showing that one pl6 allele was mutated in the germline of the family, failed to prove that the remaining normal allele was defective in tumor tissue. In this study, we have analyzed the pl6 gene in a previously undescribed family that has a history of multiple tumors, including melanoma, HNSCC, and non-small-cell lung carcinoma (NSCLQ (Fig. 1, A).
The proband survived a melanoma detected at the age of 42 years and was diagnosed with NSCLC at the age of 72 years. The proband's brother also survived a melanoma diagnosed at the age of 28 years and was afflicted with NSCLC at the age of 74 years. The proband's niece was diagnosed with melanoma at the age of 28 years and was afflicted with two synchronous HNSCCs at the age of 33 years. The history of multiple aerodigestive tumors and melanomas in only two generations of this family caused us to look for a heritable genetic defect.
Reference TypeJournal Article
Journal TitleJournal of the National Cancer Institute
Author(s)Yarbrough, Wendell G.
Olshan, Andrew F.
Liu, Edison T.