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

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    Models for Prediction of Breast Cancer Risk

    Models to predict an individual's lifetime risk of developing breast cancer are available.[81,82] In addition, models exist to predict an individual's likelihood of having a BRCA1 or BRCA2 mutation. (Refer to the Models for prediction of the likelihood of a BRCA1 or BRCA2 mutation section of this summary for more information about these models.) Not all models can be appropriately applied for all patients. Each model is appropriate only when the patient's characteristics and family history are similar to the study population on which the model was based. Different models may provide widely varying risk estimates for the same clinical scenario, and the validation of these estimates has not been performed for many models.[82,83]Table 1 summarizes the salient aspects of two of the common risk assessment models and is designed to aid in choosing the model that best applies to a particular individual.

    The Claus model [84,85] and the Gail model [86] are widely used in research studies and clinical counseling. Both have limitations, and the risk estimates derived from the two models may differ for an individual patient. Several other models, which include more detailed family history information, are also in use and are discussed below.

    Table 1. Characteristics of the Gail and Claus Modelsa

    Gail Model (Breast Cancer Risk Assessment Tool)b Claus Model
    FDR = first-degree relative; SDR = second-degree relative.
    a Adapted from Domchek et al.,[87]Rubenstein et al.,[88]and Rhodes.[89]
    b Modified based on periodic updates.[90,91]
    Data derived from Breast Cancer Detection Demonstration Project Study Cancer and Steroid Hormone Study
    Study population 2,852 cases, aged ≥35 y 4,730 cases, aged 20-54 y
    In situ and invasive cancer Invasive cancer
    3,146 controls 4,688 controls
    Caucasian Caucasian
    Annual breast screening Not routinely screened
    Family history characteristics FDRs with breast cancer FDRs or SDRs with breast cancer
    Age of onset in relatives
    Other characteristics Current age Current age
    Age at menarche
    Age at first live birth
    Number of breast biopsies
    Atypical hyperplasia in breast biopsy
    Race (included in the most current version of the Gail model)
    Strengths Incorporates: Incorporates:
    Risk factors other than family history Paternal and maternal history
    Age at onset of breast cancer
    Family history of ovarian cancer
    Limitations Underestimates risk in hereditary families May underestimate risk in hereditary families
    Number of breast biopsies without atypical hyperplasia may cause inflated risk estimates May not be applicable to all combinations of affected relatives
    Does not include risk factors other than family history
    Does not incorporate:
    Paternal family history of breast cancer or any family history of ovarian cancer
    Age at onset of breast cancer in relatives
    All known risk factors for breast cancer[89]
    Best application For individuals with no family history of breast cancer or one FDR with breast cancer, aged ≥50 y For individuals with no more than two FDRs or SDRs with breast cancer
    For determining eligibility for chemoprevention studies
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