Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome

Lee P Shulman

doi:10.1016/j.ogc.2010.03.003

Hereditary breast and ovarian cancer (HBOC): clinical features and counseling for BRCA1 and BRCA2, Lynch syndrome, Cowden syndrome, and Li-Fraumeni syndrome

Obstet Gynecol Clin North Am. 2010 Mar;37(1):109-33, Table of Contents. doi: 10.1016/j.ogc.2010.03.003.

Author

Lee P Shulman¹

Affiliation

¹ Division of Clinical Genetics, Feinberg School of Medicine of Northwestern University, Chicago, IL, USA. lps5@cornell.edu

PMID: 20494261
DOI: 10.1016/j.ogc.2010.03.003

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Age Factors
BRCA1 Protein / genetics
BRCA2 Protein / genetics
Breast Neoplasms / diagnosis
Breast Neoplasms / genetics*
Breast Neoplasms / prevention & control
Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
Colorectal Neoplasms, Hereditary Nonpolyposis / prevention & control
Female
Genes, BRCA1
Genes, BRCA2
Genetic Counseling*
Genetic Predisposition to Disease
Genetic Testing / methods
Hamartoma Syndrome, Multiple / diagnosis
Hamartoma Syndrome, Multiple / genetics*
Hamartoma Syndrome, Multiple / prevention & control
Humans
Li-Fraumeni Syndrome / diagnosis
Li-Fraumeni Syndrome / genetics*
Li-Fraumeni Syndrome / prevention & control
Ovarian Neoplasms / diagnosis
Ovarian Neoplasms / genetics*
Ovarian Neoplasms / prevention & control
Risk Assessment
Risk Factors

Substances

BRCA1 Protein
BRCA2 Protein