Hereditary cancer predisposition syndromes Journal Article


Authors: Garber, J. E.; Offit, K.
Article Title: Hereditary cancer predisposition syndromes
Abstract: Cancer genetics is increasingly becoming integrated into the practice of modern medical oncology. The ability to distinguish a growing proportion of the 5% to 10% of all cancers that develop in individuals who have inherited a genetic mutation conferring heightened susceptibility to specific cancers may permit targeted efforts in cancer surveillance and prevention. While these individuals comprise a small proportion of the overall burden of cancer, strategies successful in reducing their remarkable cancer risks may be generalizable to the broader population. In this review, we highlight the most common hereditary cancer syndromes, most attributable to genes inherited in an autosomal dominant manner with incomplete penetrance, and a number of rare syndromes in which particular progress has been made. The prevalence, penetrance, tumor spectrum, and underlying genetic defects are discussed and summarized in a large table in which a more comprehensive enumeration of syndromes is provided. © 2005 by American Society of Clinical Oncology.
Keywords: surgical technique; unclassified drug; gene mutation; genetics; mutation; clinical trial; pathogenesis; review; cancer risk; pancreas cancer; neoplasm; neoplasms; colorectal cancer; cancer susceptibility; paraganglioma; genetic predisposition to disease; melanoma; ovary cancer; breast cancer; retinoblastoma; breast neoplasms; brca1 protein; brca2 protein; prostate cancer; gastrointestinal neoplasms; cancer genetics; tumor suppressor gene; celecoxib; cyclooxygenase 2 inhibitor; sulindac; breast tumor; finasteride; tamoxifen; stomach cancer; familial cancer; ca 125 antigen; pheochromocytoma; genetic predisposition; genetic screening; oral contraceptive agent; basal cell nevus syndrome; cowden syndrome; adenomatous polyp; raloxifene; gastrointestinal tumor; neoplastic syndromes, hereditary; estrogen plus progestin; multiple endocrine neoplasia
Journal Title: Journal of Clinical Oncology
Volume: 23
Issue: 2
ISSN: 0732-183X
Publisher: American Society of Clinical Oncology  
Date Published: 2005-01-01
Start Page: 276
End Page: 292
Language: English
DOI: 10.1200/jco.2005.10.042
PUBMED: 15637391
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 147" - "Export Date: 24 October 2012" - "CODEN: JCOND" - "Source: Scopus"
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  1. Kenneth Offit
    788 Offit