Breast Cancer Screening
and Diagnostics

High Risk and Genetic Risk Consultations

Risk factors for the development of breast cancer include age, parity, family history, and, a variety of ‘high risk lesions’, found at biopsy. Some patients, whose risks are significant, can/should be followed under a high risk protocol, overseen by a high risk professional. There are many ways to assess one’s risk of developing breast cancer, all of which begin with a thorough history and physical examination. A ‘high risk’ consultation at Comprehensive Breast Care begins with this initial assessment that also includes the use of specific risk calculations using a number of different risk models. Many risk models can be used to determine the lifetime risk of developing breast cancer as well as one’s risk of carrying certain genes that predispose the development of breast and other cancers.

  • Risk Assessment

    There are multiple methods to assess the risk for the future development of breast cancer.  Multiple statistical models have been developed to estimate a women’s risk.  Breast density also has a role in determining risk.  Combining all risk factors to determine a person’s risk of developing breast cancer is more complex than ever.  Risk is generally presented as the risk to develop breast cancer within 5 years and in one’s lifetime.  These risk values are then used to determine the need for additional testing beyond mammography (such as screening MRI) and/or chemoprevention (medications used to reduce risk).


    Some models are better than others depending on the situation.  Many insurance companies require specific evaluations of ‘risk’ prior to authorizing certain tests like breast MRI.  Understanding which assessment tool is vital to obtain the proper testing and justifying the test to the insurance companies.  It is not a ‘one size fits all’ scenario.

  • Genetic Testing

    Approximately 10% of all breast cancers are related to a gene mutation.  The BRCA gene mutations (BRCA 1 and BRCA 2) are the two most are familiar with due in part to the attention brought by Angelina Jolie who had a prophylactic (preventative) mastectomy because she was found to have a gene mutation.


    However, there are now over 85 different genetic pathogenic variants identified.  Genetic testing is much more complex than in the past.  Genetic testing results may help determine management options for those with and without breast cancer.  Furthermore, some of these variants may relate to an elevated risk of cancers other than breast cancer.  Appropriate evaluation and testing are paramount to the assessment of a high-risk or cancer patient.


    What are the risk factors for carrying a gene mutation (current NCCN guidelines)?

    • Early age of breast cancer
    • Multiple affected family members
    • ‘Related’ cancers in the family (ovarian, prostate, melanoma, colon)
    • Patients with multiple primary breast cancers
    • Men with breast cancer
    • “Triple-negative” breast cancers

    Drs. Brown and Gold participated in a landmark study that challenges historic guidelines used to determine insurance coverage for genetic testing.  This study results suggest that approximately 45% of patients with breast cancer with clinically actionable germ line variants are being missed when testing is restricted to patients meeting current NCCN guidelines.  It is our position that all patients with breast cancer should be offered genetic testing without insurance interference.  As part of this ongoing trial, all of our breast cancer patients can have genetic testing performed.

Imaging and Diagnostic Procedures

There are multiple imaging modalities utilized in diagnosing disease of the breast: breast ultrasound, breast MRI, tomosynthesis or 3D mammography, image guided core needle biopsies (ultrasound, MR, and, stereotactic guided), as well as, less conventional studies like thermascan. The goal of diagnostic imaging and biopsy is to utilize the least invasive technique to make a definitive diagnosis. The most critical part of making a diagnosis, is determining the appropriate testing needed. Just because there ‘is a test’ doesn’t mean it is necessary. The right test for the right patient is paramount to high quality care.

  • Mammography

    The “gold standard”.  Screening mammography remains the best method to screen the breast.  Typically, screening studies involve two views of each breast and look for symmetry, masses, and calcifications.  Like all early detection strategies, screening mammography involves trade-offs.  Understanding these trade-offs is imperative in joint decision-making as to when and in whom screening mammography should be performed.


    Three-dimensional mammography or breast is considered a more advanced and detailed imaging technique than traditional mammography. A traditional mammogram only captures a 2-D image. Tomosynthesis can look at multiple layers of the breast in a 3-D image, filling in the gaps that traditional mammograms have.  Breast tomosynthesis has been a more effective screening study in women with dense breast tissue.

  • Automated Breast Ultrasound (ABUS)

    Automated breast ultrasound (ABUS) is used as an adjunct to mammography for screening breast cancers in asymptomatic women with dense breasts. It is an effective screening modality with diagnostic accuracy comparable to that of handheld ultrasound (HHUS).  As a screening tool, the sensitivity (true negative) of the combination of ABUS or HHUS with mammography was 99.1% and the specificities (true positives) were 86.9% and 84.9%, respectively. The incremental cancer detection rate in mammography-negative dense breasts was 42.8 per 1000 ultrasound examinations.

  • Breast MRI

    Magnetic resonance imaging (MRI) is a noninvasive medical test.  MRI uses a powerful magnetic field, radiofrequency pulses, and a computer to produce a detailed picture of the breast. MRI does not use ionizing radiation (x-rays).  Breast MRI requires the injection of a ‘dye’ gadolinium intravenously to help generate multiple pictures of the breast.  What is a little peculiar, is that when the test is being performed, women lie prone (face down).  Both breasts are imaged.  The test typically takes 30-45 minutes.


    Breast MRI is not necessary for every patient.  Breast MRI is an excellent screening tool for women who are found to be at a high risk for developing breast cancer.  MRI is utilized in some, not all, newly diagnosed breast cancer.

Surgical Breast Biopsy

Open surgical breast biopsies are sometimes required to make a definitive diagnosis. Many times lesion or area of concern is too small to appreciate by ‘feel’. In these scenarios a localizing technique may be required to help guide the surgeon to the area of concern. Both wire and wireless localization techniques are employed in these situations. Placement of either a wire or wireless device is performed in the Breast Imaging Department before the surgical procedure. A mammogram or ultrasound (sometimes an MRI) is used to identify the lesion of concern and then to guide a wire or wireless device so that it is be placed next to (adjacent) to the area of concern. This localizing technique, will assist surgically, in identifying the area of concern for removal.

Subareolar dissection is a procedure that is sometimes performed in women who have unexplained nipple discharge. This is a procedure, whereby, the affected (draining) duct is isolated and a portion removed. Similar to a breast biopsy, the procedure sometimes requires a preoperative localization. Although most nipple discharge is from a benign (noncancerous) etiology, biopsy/subareolar dissection is at times required.

  • Tissue Biopsy

    Once an abnormality is identified in the breast, the next step is obtaining a tissue diagnosis.  A tissue diagnosis will allow a treatment plan to formulate.  In the past, all biopsies of the breast were done surgically.  Today, the standard has changed.


    When it comes to biopsy of the breast, there is consensus. The American Society of Breast Surgeons:


    Whenever possible, diagnosis of breast lesions should be performed with a needle, rather than a surgical procedure. When a lesion is seen with ultrasound, this modality should be used for image-guidance. Image-guidance is an extremely useful adjunct in the performance of percutaneous biopsy of palpable breast lesions. Image-guidance confirms the proper placement of the biopsy device into the lesion (when core needle device is used), or immediately below the lesion (when vacuum-assisted device is used). Performing percutaneous breast biopsy procedures without the use of image-guidance may lead to false negative results since the biopsy device cannot be confirmed to be in the proper position to obtain tissue from the suspect mass. In most, if not all instances of image-guided biopsy of palpable breast lesions, ultrasound is the preferred image-guidance modality.

  • Ultrasound Guided Core Biopsy

    When a lesion is visible by ultrasound, this modality is used to localize the lesion, and, guide biopsy.  Ultrasound-guided procedures are well tolerated. 

  • Stereotactic Core Biopsy

    A stereotactic core biopsy, is a technique whereby a lesion that is visualized mammographically, can undergo biopsy, using mammographically (stereotactic) guided biopsy techniques.  This again, follows the recommendation of using a needle to make the diagnosis of a breast lesion.  Stereotactic core biopsies are performed when a lesion is visible by mammogram only.

  • MRI Guided Core Biopsy

    An MRI-guided core biopsy is the least common of all core biopsies.  This technique utilized MR guidance of needle to the lesion/area of concern.  MR guided core biopsy is performed with a lesion is visible by MRI only.