High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer

Bick, Ulrich; Engel, Christoph; Krug, Barbara; Heindel, Walter; Fallenberg, Eva Maria; Rhiem, Kerstin; Maintz, David; Golatta, Michael; Speiser, Dorothee; Rjosk-Dendorfer, Dorothea; Lämmer-Skarke, I; Dietzel, Frederic; Schäfer, Karl Werner Fritz; Leinert, Elena; Weigel, Stefanie; Sauer, Stephanie; Pertschy, Stefanie; Hofmockel, Thomas; Hagert-Winkler, Anne; Kast, Karin; Quante, Anne S.; Meindl, Alfons; Kiechle, Marion; Loeffler, Markus; Schmutzler, Rita K.

doi:10.1007/s10549-019-05152-9

Cited by 109 publications

(89 citation statements)

References 32 publications

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“…Therefore, annual surveillance with MRI and mammography in younger women may not be justified due to high rate of false‐positive imaging results. A detailed analysis of the predictive value of MRI based breast imaging has been published elsewhere …”

Section: Discussionmentioning

confidence: 99%

“…The present analysis was based on data from a prospective multimodality breast imaging surveillance study of the GC‐HBOC, the results of which have been published elsewhere . Members of GC‐HBOC are German university centers that offer genetic counseling and testing to families suspected of having hereditary BC and OC, and provide intensified BC surveillance for women at high cancer risk.…”

Section: Methodsmentioning

confidence: 99%

“…The present analysis was based on data from a prospective multimodality breast imaging surveillance study of the GC-HBOC, the results of which have been published elsewhere. 29 Members of GC-HBOC are German university centers that offer genetic counseling and testing to families suspected of having hereditary BC and OC, and provide intensified BC surveillance for women at high cancer risk. Genetic testing is offered to counselees with a familial history or early onset of BC or OC, who satisfy at least one of the following constellations in their family: (i) ≥3 women with BC, irrespective of age at diagnosis; (ii) ≥2 women with BC, one of whom was diagnosed <51 years of age, (iii) ≥1 woman with BC and ≥1 (same or different) woman with OC, (iv) ≥2 women with OC, (v) ≥1 male with BC and ≥1 woman with BC and/or OC, (vi) ≥1 woman with BC diagnosed <36 years of age, (vii) ≥1 woman with bilateral BC with first diagnosis <51 years of age.…”

Section: Study Cohortmentioning

confidence: 99%

See 2 more Smart Citations

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

Engel

Fischer

Zachariae

et al. 2019

Intl Journal of Cancer

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Comparably little is known about breast cancer (BC) risks in women from families tested negative for BRCA1/2 mutations despite an indicative family history, as opposed to BRCA1/2 mutation carriers. We determined the age‐dependent risks of first and contralateral breast cancer (FBC, CBC) both in noncarriers and carriers of BRCA1/2 mutations, who participated in an intensified breast imaging surveillance program. The study was conducted between January 1, 2005, and September 30, 2017, at 12 university centers of the German Consortium for Hereditary Breast and Ovarian Cancer. Two cohorts were prospectively followed up for incident FBC (n = 4,380; 16,398 person‐years [PY], median baseline age: 39 years) and CBC (n = 2,993; 10,090 PY, median baseline age: 42 years). Cumulative FBC risk at age 60 was 61.8% (95% CI 52.8–70.9%) for BRCA1 mutation carriers, 43.2% (95% CI 32.1–56.3%) for BRCA2 mutation carriers and 15.7% (95% CI 11.9–20.4%) for noncarriers. FBC risks were significantly higher than in the general population, with incidence rate ratios of 23.9 (95% CI 18.9–29.8) for BRCA1 mutation carriers, 13.5 (95% CI 9.2–19.1) for BRCA2 mutation carriers and 4.9 (95% CI 3.8–6.3) for BRCA1/2 noncarriers. Cumulative CBC risk 10 years after FBC was 25.1% (95% CI 19.6–31.9%) for BRCA1 mutation carriers, 6.6% (95% CI 3.4–12.5%) for BRCA2 mutation carriers and 3.6% (95% CI 2.2–5.7%) for noncarriers. CBC risk in noncarriers was similar to women with unilateral BC from the general population. Further studies are needed to confirm whether less intensified surveillance is justified in women from BRCA1/2 negative families with elevated risk.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Study Cohortmentioning

confidence: 99%

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Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

Engel

Fischer

Zachariae

et al. 2019

Intl Journal of Cancer

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“…The addition of MRI to mammography is beneficial in the early detection of breast cancer in high‐risk individuals . MRI has consistently been shown to outperform mammography and ultrasound with regard to sensitivity, at the cost of reduced specificity .…”

Section: Discussionmentioning

confidence: 99%

“…The addition of MRI to mammography is beneficial in the early detection of breast cancer in high-risk individuals. [30][31][32][33][34] MRI has consistently been shown to outperform mammography and ultrasound with regard to sensitivity, at the cost of reduced specificity. 30 In this series, MRI was superior to mammography (sensitivity of 100% vs 72.7%) in the detection of breast cancers in women aged under 50.…”

Section: Multimodality Screening For Breast Cancermentioning

confidence: 99%

Outcomes of women at high familial risk for breast cancer: An 8‐year single‐center experience

Lammert

Skandarajah

Shackleton

et al. 2019

Asia-Pac J Clncl Oncology

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Objectives The value of a high‐risk surveillance program for mutation carriers and women at high familial breast cancer risk has not been extensively studied. A Breast and Ovarian Cancer Risk Management Clinic (BOCRMC) was established at the Royal Melbourne Hospital in 2010 to provide multimodality screening and risk management strategies for this group of women. The aims of this study were to evaluate the program and describe breast cancer diagnoses for BRCA1, BRCA2, and other germline mutation carriers as well as high‐risk noncarriers attending the BOCRMC. Methods Clinical data from mutation carriers and noncarriers with a ≥25% lifetime risk of developing breast cancer who attended between 2010 and 2018 were extracted from clinic records and compared. The pattern and mode of detection of cancer were determined. Results A total of 206 mutation carriers and 305 noncarriers attended the BOCRMC and underwent screening on at least one occasion. Median age was 37 years. After a median follow‐up of 34 months, 15 (seven invasive) breast cancers were identified in mutation carriers, with seven (six invasive) breast cancers identified in noncarriers. Of these, 20 (90.9%) were detected by annual screening, whereas two (9.1%) were detected as interval cancers (both in BRCA1 mutation carriers). Median size of the invasive breast cancers was 11 mm (range: 1.5‐30 mm). The majority (76.9%) were axillary node negative. In women aged 25‐49 years, the annualized cancer incidence was 1.6% in BRCA1, 1.4% in BRCA2 mutation carriers, and 0.5% in noncarriers. This compares to 0.06% annualized cancer incidence in the general Australian population. Conclusions Screening was effective at detecting early‐stage cancers. The incidence of events in young noncarriers was substantially higher than in the general population. This potentially justifies ongoing management through a specialty clinic, although further research to better personalize risk assessment in noncarriers is required.

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MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Lubinski,

Kotsopoulos,

Moller

et al. 2024

JAMA Oncol

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ImportanceMagnetic resonance imaging (MRI) surveillance is offered to women with a pathogenic variant in the BRCA1 or BRCA2 gene who face a high lifetime risk of breast cancer. Surveillance with MRI is effective in downstaging breast cancers, but the association of MRI surveillance with mortality risk has not been well defined.ObjectiveTo compare breast cancer mortality rates in women with a BRCA1 or BRCA2 sequence variation who entered an MRI surveillance program with those who did not.Design, Setting, and ParticipantsWomen with a BRCA1 or BRCA2 sequence variation were identified from 59 participating centers in 11 countries. Participants completed a baseline questionnaire between 1995 and 2015 and a follow-up questionnaire every 2 years to document screening histories, incident cancers, and vital status. Women who had breast cancer, a screening MRI examination, or bilateral mastectomy prior to enrollment were excluded. Participants were followed up from age 30 years (or the date of the baseline questionnaire, whichever was later) until age 75 years, the last follow-up, or death from breast cancer. Data were analyzed from January 1 to July 31, 2023.ExposuresEntrance into an MRI surveillance program.Main Outcomes and MeasuresCox proportional hazards modeling was used to estimate the hazard ratios (HRs) and 95% CIs for breast cancer mortality associated with MRI surveillance compared with no MRI surveillance using a time-dependent analysis.ResultsA total of 2488 women (mean [range] age at study entry 41.2 [30-69] years), with a sequence variation in the BRCA1 (n = 2004) or BRCA2 (n = 484) genes were included in the analysis. Of these participants, 1756 (70.6%) had at least 1 screening MRI examination and 732 women (29.4%) did not. After a mean follow-up of 9.2 years, 344 women (13.8%) developed breast cancer and 35 women (1.4%) died of breast cancer. The age-adjusted HRs for breast cancer mortality associated with entering an MRI surveillance program were 0.20 (95% CI, 0.10-0.43; P &lt; .001) for women with BRCA1 sequence variations and 0.87 (95% CI, 0.10-17.25; P = .93) for women with BRCA2 sequence variations.Conclusion and RelevanceResults of this cohort study suggest that among women with a BRCA1 sequence variation, MRI surveillance was associated with a significant reduction in breast cancer mortality compared with no MRI surveillance. Further studies of women with BRCA2 sequence variations are needed to ascertain these women obtain the same benefits associated with MRI surveillance.

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High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer

Cited by 109 publications

References 32 publications

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

Breast cancer risk in BRCA1/2 mutation carriers and noncarriers under prospective intensified surveillance

Outcomes of women at high familial risk for breast cancer: An 8‐year single‐center experience

MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations

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