TY - CHAP M1 - Book, Section TI - Familial Cancer Syndromes A1 - Comen, Elizabeth A. A1 - Offit, Kenneth A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - Disease summary:Familial cancer syndromes are defined as cancers that arise in families with a genetic predisposition to develop cancer.To date, up to 10% of all cancer diagnoses are in individuals with an inherited genetic mutation causing increased risk. Most of the common syndromes are a result of autosomal dominant mutations and result in earlier age at cancer diagnosis than those found in the general population.Familial cancer predisposition may refer to syndromes where one or two types of cancer are dominant, such as breast and ovarian cancer in BRCA1 mutation carriers. Alternatively, familial cancer syndromes may refer to syndromes which result in multiple affected organs, such as the case with HNPCC (Lynch syndrome) whereby mutations in DNA mismatch repair genes confer an increased risk to multiple types of cancers, for example, large and small bowel, uterus, stomach, ovaries, urinary tract, etc.As the ability to identify and understand the genetic and genomic changes in an individual progresses, our understanding of inherited risk is likely to change. Models which incorporate multifactorial genetic and environmental influences will evolve to better assess familial risk. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102700277 ER -