Updated Oct 2010: Genetic Syndromes - Genetics of Breast and Ovarian Cancer - National Cancer Institute

Major Genes

Introduction

BRCA1
BRCA2
BRCA1 and BRCA2 Function

Mutations in BRCA1 and BRCA2
Variants of uncertain significance

Prevalence and Founder Effects

Models for Prediction of the Likelihood of a BRCA1 or BRCA2 Mutation

Penetrance of Mutations
Cancer risk in individuals who test negative for a known familial BRCA1/2 mutation
Breast and ovarian cancer risk in breast cancer families without detectable BRCA1/2 mutations

Population Estimates of the Likelihood of Having a BRCA1 or BRCA2 Mutation

Role of BRCA1 and BRCA2 in Sporadic Cancer

Genotype-Phenotype Correlations

Pathology/Prognosis of Breast Cancer
BRCA1
BRCA2
Contralateral breast cancer in BRCA mutation carriers

Pathology/Prognosis of Ovarian Cancer
Pathology
Prognosis

Other Rare Breast and Ovarian Cancer-Associated Syndromes
Li-Fraumeni syndrome
Cowden syndrome
Peutz-Jeghers syndrome