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Genetics of Breast and Ovarian Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Introduction

Table 1. Characteristics of the Gail and Claus Modelsa continued...

Risk could be underestimated in the lowest risk strata.[95] Earlier studies [92,93] suggested risk was overestimated in younger women and underestimated in older women. More recent studies [94,95] using the modified Gail model (which is currently used) found it performed well in all age groups. Further studies are needed to establish the validity of the Gail model in minority populations.[96] Recently, modifications have been made to the Breast Cancer Risk Assessment Tool incorporating data from the Women's Contraceptive and Reproductive Experiences (CARE) study. This study of more than 1,600 African American women with invasive breast cancer and more than 1,600 controls was used to develop a breast cancer risk assessment model with improved race-specific calibration.[90] Additional information for seven common low-penetrance breast cancer susceptibility alleles has not been shown to improve model performance significantly.[97,98]

A study of 491 women aged 18 to 74 years with a family history of breast cancer compared the most recent Gail model to the Claus model in predicting breast cancer risk.[99] The two models were positively correlated (r = .55). The Gail model estimates were higher than the Claus model estimates for most participants. Presentation and discussion of both the Gail and Claus models risk estimates may be useful in the counseling setting.

The Tyrer-Cuzick model incorporates both genetic and nongenetic factors.[100] A three-generation pedigree is used to estimate the likelihood that an individual carries either a BRCA1/BRCA2 mutation or a hypothetical low penetrance gene. In addition, the model incorporates personal risk factors such as parity, body mass index, height, and age at menarche, menopause, HRT use, and first live birth. Both genetic and nongenetic factors are combined to develop a risk estimate. Although powerful, the model at the current time is less accessible to primary care providers than the Gail and Claus models. The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) model examines family history to estimate breast cancer risk and also incorporates both BRCA1/BRCA2 and non-BRCA1/BRCA2 genetic risk factors.[101]

Other risk assessment models incorporating breast density have been developed but are not ready for clinical use.[102,103] In the future, additional models may be developed or refined to include such factors as breast density and other biomarkers.

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Last Updated: February 25, 2014
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