Multimodality Breast Cancer Screening in Women with a Familial or Genetic Predisposition

Abstract

BackgroundWomen with a predisposition for breast cancer require a tailored screening program for early cancer detection. We evaluated the performance of mammography (mg), ultrasonography (us), and magnetic resonance imaging (mri) screening in these women. Patients and MethodsIn asymptomatic women either confirmed as BRCA1/2 carriers, or having a greater than 30% probability of being so as estimated by brcapro [Berry D, Parmigiani G. Duke spore (Specialized Program of Research Excellence) in Breast Cancer. 1999], we conducted a prospective comparative trial consisting of annual mri and mg, and biannual us and clinical breast examination. All evaluations were done within 30 days of one another. For each screening round, imaging tests were independently interpreted by three radiologists. ResultsThe study enrolled 184 women, and 387 screening rounds were performed, detecting 12 cancers (9 infiltrating, 3 in situ), for an overall cancer yield of 6.5%. At diagnosis, 7 infiltrating cancers were smaller than 2 cm (T1); only 1 woman presented with axillary nodal metastases. All tumours were negative for the human epidermal growth factor receptor 2. Of the 12 cancers, mri detected 10, and mg, 7; us did not identify any additional cancers. The overall recall rate after mri was 21.8%, as compared with 11.4% for us and 16.1% for mg. Recall rates declined with successive screening rounds. In total, 45 biopsies were performed: 21 as a result of an us abnormality; 17, because of an mri lesion; and 7, because of a mg anomaly. InterpretationIn high-risk women, mri offers the best sensitivity for breast cancer screening. The combination of yearly mri and mg reached a negative predictive value of 100%. The recall rate is greatest with mri, but declines for all modalities with successive screening rounds.

The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations

“…The specificity of breast examination in our study was consistent with other reports (range, 95.9‒99.3% 8,9,12,13 5‐8 ).…”

“…The reported performance of breast examination for detecting breast cancer is highly variable; in women at high risk, sensitivity ranges between 0 and 64.1% and specificity between 95.9% and 99.3% 5‐16 . Its reported sensitivity in women with BRCA1/2 mutations is 0–13% 5‐8 …”

The paradox of MRI for breast cancer screening: high-risk and dense breasts—available evidence and current practice

“…As outlined in the Introduction, contrast-enhanced breast MRI has been recognised as a valuable screening tool in women at high BC risk. From 2000 to 2015, several studies reported a large superiority of MRI versus mammography (in some studies also versus ultrasound) in women with hereditary BC predisposition [ 58 – 72 ] (Table 1 ). Ten studies, 15 papers, over 6000 women enrolled, near 19,000 rounds.…”

Re. Multimodality Breast Cancer Screening in Women with a Familial or Genetic Predisposition

“…Earlier this year in Current Oncology, Trop and colleagues added new information to support the claim that screening with magnetic resonance imaging (mri) for breast cancer is superior-in terms of sensitivityto routine mammography 1 . This news should be welcome to women who are found to carry a mutation in the BRCA1 or BRCA2 gene and should encourage more women to undergo genetic testing.…”