Screening of high risk women

Identification of women with high risk

The greatest increase in risk has generally been associated with a family history of breast and/or ovarian cancer, with the number, type, and age at onset of affected relatives being important determinants of risk. 

Women who are known carriers of mutations BRCA1, BRCA2 or TP53 have a particularly high risk of breast and ovarian cancer. Although only laboratory testing can confirm that a woman carries a deleterious mutation in one of these genes, there are several family history characteristics that suggest an increased risk of breast cancer.

These reflect the autosomal dominant mode of inheritance and include:

• Two or more relatives with breast or ovarian cancer;
• Breast cancer occurring before age 50 in an affected relative;
• Relatives with both breast and ovarian cancer;
• One or more relatives with two cancers (breast and ovarian cancer or two independent breast cancers);
• Male relatives with breast cancer

The inherited breast cancer risk is higher when the it occurs in a first-degree relative (such as a mother, sister or daughter) rather than in a second-degree relative (such as a grandmother or aunt). 

Risk can be inherited equally from maternal and paternal sides of the family and when risk is inherited from the paternal side, there may be no apparent affected first-degree relatives.
In addition to family history, women at high risk include women with:

• Personal history of breast or ovarian cancer
• History of atypical ductal hyperplasia on previous breast biopsy
• Previous treatment with chest radiation

Screening options for women at high risk

Management of familial breast cancer is recommended at a tertiary care facility Genetic testing for BRCA1, BRCA2 and TP53 is appropriate only for a small proportion of women who are from high-risk families. Screening women at high risk should be individualized according to risk factors.

There are four screening options that may be considered for women at an increased risk of breast cancer:

• Initiation of Annual Mammography screening at earlier age,
• Annual Clinical Breast Exam (CBE)
• Additional Magnetic resonance imaging (MRI) screening
• Genetic testing

 Screening begins five to ten years prior to the earliest previous breast cancer in the family. Due to decrease sensitivity and specificity of mammogram in young women it is recommended to add additional Magnetic resonance imaging (MRI) screening.  Below is a summary of screening guidelines for high risk women.