Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer : Part I: Studies of cancer in families

✍ Scribed by Henry T. Lynch; Patrice Watson; Trudy G. Shaw; Jane F. Lynch; Anne E. Harty; Barbara A. Franklin; Christine R. Kapler; Susan T. Tinley; Bo Liu

• Publisher: John Wiley and Sons
• Year: 1999
• Tongue: English
• Weight: 164 KB
• Volume: 86
• Category: Article
• ISSN: 0008-543X
• DOI: 10.1002/(sici)1097-0142(19991201)86:11+<2449::aid-cncr1>3.0.co;2-m

✦ Synopsis

Hereditary cancer represents approximately 5-10% of the total cancer burden and may account for 60,000 to 120,000 new cancer occurrences this year in the United States. New developments in molecular genetics and the cloning of cancer-prone genes have intensely fueled interest in dealing with hereditary forms of cancer. The authors provide an algorithm that depicts the process for the identification, study, and DNA-based genetic counseling of families being investigated under a research proposal at the Hereditary Cancer Institute of Creighton University School of Medicine. They have studied 56 hereditary nonpolyposis colorectal carcinoma families; in 18 of them, associated genomic mutations have been identified in affected members. DNA-based genetic counseling has been provided for seven of these families. The authors have also evaluated 131 hereditary breast-ovarian carcinoma families. BRCA1 and BRCA2 mutation searches have been performed for 76 of these families; BRCA1 mutations were found in 38 families and BRCA2 mutations in 9. The study of cancer-prone families is a powerful approach to cancer control, particularly when the germ-line mutation is identified in the family and individuals at high risk can be tested, once they provide informed consent, and receive DNA-based genetic counseling. Discovery of the germ-line mutation for cancer proneness provides an unparalleled opportunity to predict patients' lifetime risk for cancer of specific anatomic sites, inclusive of a pattern of multiple primaries. Surveillance and management protocols, when melded to the particular syndrome's natural history, can be life-saving.