Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome.
This article provides an overview of the molecular changes associated with inherited gynecologic malignancies and the incorporation of this information in the counseling of individuals at increased risk for developing malignancies, as well as conventional and emerging approaches to the screening of the general population. Cancer genetic counseling and its role in women's health care is examined. The focus is hereditary breast and ovarian cancer; however, cancer predisposition caused by genes other than BRCA1 and BRCA2 is also considered. The aim is to provide a foundation for counseling based on fundamental knowledge of the genes and their clinical consequences. The reader is then guided through the mechanics of risk assessment for individual patients, concluding with the psychosocial implications of counseling.
Shulman
Lee P
LP
Division of Clinical Genetics, Feinberg School of Medicine of Northwestern University, Chicago, IL, USA. lps5@cornell.edu
D000367:Age Factors; D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000517:prevention & control; D018570:Risk Assessment; D012307:Risk Factors
D019313:BRCA1 Protein; D024682:BRCA2 Protein