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Erschienen in: Archives of Gynecology and Obstetrics 3/2014

01.03.2014 | Gynecologic Oncology

Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers

verfasst von: Kristin Bosse, Monika Graeser, Axel Goßmann, Matthias Hackenbroch, Rita K. Schmutzler, Kerstin Rhiem

Erschienen in: Archives of Gynecology and Obstetrics | Ausgabe 3/2014

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Abstract

Introduction

This study aimed at evaluating the efficacy of ultrasound for the early detection of breast cancers in BRCA1/2 mutation carriers.

Methods

Between 01/1997 and 10/2008 221 BRCA1/2 mutation carriers participated in a breast cancer screening program which included semi-annual ultrasound in combination with annual mammography and magnetic resonance imaging (MRI). Women underwent on average (median) five semi-annual screening rounds with a range of one to 22 appointments, totaling 1,855 rounds of screening. All three imaging modalities were coded according to the American College of Radiology (BI-RADS classification).

Results

In total, we detected 27 BRCA-associated breast cancers in 25 patients. The sensitivity was 77 % for ultrasound, 27 % for mammography, and 100 % for MRI. Three tumors were detected directly as a result of only the semi-annual ultrasound screen.

Conclusions

Due to the specific tumor morphology and the considerably elevated tumor doubling time, mutation carriers benefit from the addition of semi-annual ultrasound screening as a sensitive and cost-effective method.
Literatur
1.
Zurück zum Zitat Antoniou A, Pharoah PD, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130PubMedCentralPubMedCrossRef Antoniou A, Pharoah PD, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130PubMedCentralPubMedCrossRef
2.
Zurück zum Zitat Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 1997; 349: 1505–10 Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. Lancet 1997; 349: 1505–10
3.
Zurück zum Zitat Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676–689PubMedCentralPubMedCrossRef Ford D, Easton DF, Stratton M et al (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676–689PubMedCentralPubMedCrossRef
4.
Zurück zum Zitat Tilanus-Linthorst MM, Kriege M, Boetes C et al (2005) Hereditary breast cancer growth rates and its impact on screening policy. Eur J Cancer 41:1610–1617PubMedCrossRef Tilanus-Linthorst MM, Kriege M, Boetes C et al (2005) Hereditary breast cancer growth rates and its impact on screening policy. Eur J Cancer 41:1610–1617PubMedCrossRef
5.
6.
Zurück zum Zitat Rhiem K, Flucke U, Schmutzler RK (2006) BRCA1-associated breast carcinomas frequently present with benign sonographic features. Am J Roentgenol 186:E11–E12 author reply E12-3CrossRef Rhiem K, Flucke U, Schmutzler RK (2006) BRCA1-associated breast carcinomas frequently present with benign sonographic features. Am J Roentgenol 186:E11–E12 author reply E12-3CrossRef
7.
Zurück zum Zitat Brekelmans CT, Seynaeve C, Bartels CC et al (2001) Rotterdam Committee for Medical and Genetic Counseling: effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol 19:924–930PubMed Brekelmans CT, Seynaeve C, Bartels CC et al (2001) Rotterdam Committee for Medical and Genetic Counseling: effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol 19:924–930PubMed
8.
Zurück zum Zitat Vasen HFA, Tesfay E, Boonstra H et al (2005) Early detection of breast and ovarian cancer in families with BRCA mutations. Eur J Cancer 41:549–554PubMedCrossRef Vasen HFA, Tesfay E, Boonstra H et al (2005) Early detection of breast and ovarian cancer in families with BRCA mutations. Eur J Cancer 41:549–554PubMedCrossRef
9.
Zurück zum Zitat Komenaka IK, Ditkoff BA, Joseph KA et al (2004) The development of interval breast malignancies in patients with BRCA mutations. Cancer 100:2079–2083PubMedCrossRef Komenaka IK, Ditkoff BA, Joseph KA et al (2004) The development of interval breast malignancies in patients with BRCA mutations. Cancer 100:2079–2083PubMedCrossRef
10.
Zurück zum Zitat Warner E, Plewes DB, Hill KA et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317–1325PubMedCrossRef Warner E, Plewes DB, Hill KA et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 292:1317–1325PubMedCrossRef
11.
Zurück zum Zitat Tilanus-Linthorst MM, Obdeijn IM, Hop WC et al (2007) BRCA1 mutation and young age predict fast breast cancer growth in the Dutch, United Kingdom, and Canadian magnetic resonance imaging screening trials. Clin Can Res 13(24):7357–7362CrossRef Tilanus-Linthorst MM, Obdeijn IM, Hop WC et al (2007) BRCA1 mutation and young age predict fast breast cancer growth in the Dutch, United Kingdom, and Canadian magnetic resonance imaging screening trials. Clin Can Res 13(24):7357–7362CrossRef
12.
Zurück zum Zitat Gierach GL, Loud JT, Chow CK, Prindiville SA, Eng-Wong J, Soballe PW, Giambartolomei C, Mai PL, Galbo CE, Nichols K, Calzone KA, Vachon C, Gail MH, Greene MH (2010) Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer. Breast Cancer Res Treat 123(1):245–255 Gierach GL, Loud JT, Chow CK, Prindiville SA, Eng-Wong J, Soballe PW, Giambartolomei C, Mai PL, Galbo CE, Nichols K, Calzone KA, Vachon C, Gail MH, Greene MH (2010) Mammographic density does not differ between unaffected BRCA1/2 mutation carriers and women at low-to-average risk of breast cancer. Breast Cancer Res Treat 123(1):245–255
13.
Zurück zum Zitat Lehman C, Lee C, Loving V, Portillo M, Peacock S, DeMartini W (2012) Accuracy and value of breast ultrasound for primary imaging evaluation of symptomatic women 30-39 years of age. AJR 199:1169–1177PubMedCrossRef Lehman C, Lee C, Loving V, Portillo M, Peacock S, DeMartini W (2012) Accuracy and value of breast ultrasound for primary imaging evaluation of symptomatic women 30-39 years of age. AJR 199:1169–1177PubMedCrossRef
14.
Zurück zum Zitat Meindl A (2002) Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 97:472–480PubMedCrossRef Meindl A (2002) Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. Int J Cancer 97:472–480PubMedCrossRef
15.
Zurück zum Zitat Andrieu N, Easton DF, Chang-Claude J, Rookus MA, Brohet R, Cardis E, Antoniou AC, Wagner T, Simard J, Evans G, Peock S, Fricker JP, Nogues C, Van’t Veer L, Van Leeuwen FE, Goldgar DE (2006) Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators’ Group. J Clin Oncol 24(21):3361–3366PubMedCrossRef Andrieu N, Easton DF, Chang-Claude J, Rookus MA, Brohet R, Cardis E, Antoniou AC, Wagner T, Simard J, Evans G, Peock S, Fricker JP, Nogues C, Van’t Veer L, Van Leeuwen FE, Goldgar DE (2006) Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators’ Group. J Clin Oncol 24(21):3361–3366PubMedCrossRef
16.
Zurück zum Zitat American College of Radiology and (ACR) reporting system (1993) Breast Imaging and Reporting and Data System (BI-RADS), 2nd edn. American College of Radiology, Reston, pp 15–18 American College of Radiology and (ACR) reporting system (1993) Breast Imaging and Reporting and Data System (BI-RADS), 2nd edn. American College of Radiology, Reston, pp 15–18
17.
Zurück zum Zitat Mesurolle B, Kadoch L, El-Khoury M, Lisbona A, Dendukuri N, Foulkes WD (2007) Sonographic features of breast carcinoma presenting as masses in BRCA gene mutation carriers. J Ultrasound Med 26(6):817–824PubMed Mesurolle B, Kadoch L, El-Khoury M, Lisbona A, Dendukuri N, Foulkes WD (2007) Sonographic features of breast carcinoma presenting as masses in BRCA gene mutation carriers. J Ultrasound Med 26(6):817–824PubMed
18.
Zurück zum Zitat Berg WA (2009) Tailored supplemental screening for breast cancer: what now and what next? AJR 193:1188 author replyCrossRef Berg WA (2009) Tailored supplemental screening for breast cancer: what now and what next? AJR 193:1188 author replyCrossRef
19.
Zurück zum Zitat Hwang ES, McLennan JL, Moore DH et al (2007) Ductal carcinoma in situ in BRCA mutation carriers. J Clin Oncol 25(6):642–647PubMedCrossRef Hwang ES, McLennan JL, Moore DH et al (2007) Ductal carcinoma in situ in BRCA mutation carriers. J Clin Oncol 25(6):642–647PubMedCrossRef
20.
Zurück zum Zitat Warner W, Causer Petrina A, Wong John W-N et al (2011) Improvement in DCIS detection rates by MRI over time in a high-risk breast screening study. Breast J 17(1):9–17PubMedCrossRef Warner W, Causer Petrina A, Wong John W-N et al (2011) Improvement in DCIS detection rates by MRI over time in a high-risk breast screening study. Breast J 17(1):9–17PubMedCrossRef
21.
Zurück zum Zitat Kuhl CK, Schmutzler RK, Leutner CC et al (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 215:267–279PubMedCrossRef Kuhl CK, Schmutzler RK, Leutner CC et al (2000) Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 215:267–279PubMedCrossRef
22.
Zurück zum Zitat Libermann L (2004) Breast cancer sreening with MRI—What are the data for the patients at high risk? N Eng J Med 351:497–500 EditorialCrossRef Libermann L (2004) Breast cancer sreening with MRI—What are the data for the patients at high risk? N Eng J Med 351:497–500 EditorialCrossRef
23.
Zurück zum Zitat Kriege M, Brekelmans CT, Boetes C et al (2004) Magnetic Resonance Imaging Screening Study Group: efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–437PubMedCrossRef Kriege M, Brekelmans CT, Boetes C et al (2004) Magnetic Resonance Imaging Screening Study Group: efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 351:427–437PubMedCrossRef
24.
Zurück zum Zitat Leach MO, Boggis CR, Dixon AK et al (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365:1769–1778PubMedCrossRef Leach MO, Boggis CR, Dixon AK et al (2005) Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 365:1769–1778PubMedCrossRef
25.
Zurück zum Zitat Passaperuma K, Warner E, Causer PA, Hill KA, Messner S, Wong JW, Jong RA, Wright FC, Yaffe MJ, Ramsay EA, Balasingham S, Verity L, Eisen A, Curpen B, Shumak R, Plewes DB, Narod SA (2012) Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer 107:24–30 Passaperuma K, Warner E, Causer PA, Hill KA, Messner S, Wong JW, Jong RA, Wright FC, Yaffe MJ, Ramsay EA, Balasingham S, Verity L, Eisen A, Curpen B, Shumak R, Plewes DB, Narod SA (2012) Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer 107:24–30
26.
Zurück zum Zitat Heijnsdijk EA, Warner E, Gilbert FJ, Tilanus-Linthorst MM, Evans G, Causer PA, Eeles RA, Kaas R, Draisma G, Ramsay EA, Warren RM, Hill KA, Hoogerbrugge N, Wasser MN, Bergers E, Oosterwijk JC, Hooning MJ, Rutgers EJ, Klijn JG, Plewes DB, Leach MO, de Koning HJ (2012) Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev 21(9):1458–1468PubMedCrossRef Heijnsdijk EA, Warner E, Gilbert FJ, Tilanus-Linthorst MM, Evans G, Causer PA, Eeles RA, Kaas R, Draisma G, Ramsay EA, Warren RM, Hill KA, Hoogerbrugge N, Wasser MN, Bergers E, Oosterwijk JC, Hooning MJ, Rutgers EJ, Klijn JG, Plewes DB, Leach MO, de Koning HJ (2012) Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined. Cancer Epidemiol Biomarkers Prev 21(9):1458–1468PubMedCrossRef
27.
Zurück zum Zitat Saslow D, Boetes C, Burke W et al (2007) American Cancer Society Breast Cancer Advisory Group: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57(2):75–89 Erratum in: CA Cancer J Clin 2007, 57:185PubMedCrossRef Saslow D, Boetes C, Burke W et al (2007) American Cancer Society Breast Cancer Advisory Group: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57(2):75–89 Erratum in: CA Cancer J Clin 2007, 57:185PubMedCrossRef
28.
29.
Zurück zum Zitat NICE Guidelines: CG41: Familial breast cancer: The classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care NICE Guidelines: CG41: Familial breast cancer: The classification and care of women at risk of familial breast cancer in primary, secondary and tertiary care
Metadaten
Titel
Supplemental screening ultrasound increases cancer detection yield in BRCA1 and BRCA2 mutation carriers
verfasst von
Kristin Bosse
Monika Graeser
Axel Goßmann
Matthias Hackenbroch
Rita K. Schmutzler
Kerstin Rhiem
Publikationsdatum
01.03.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Archives of Gynecology and Obstetrics / Ausgabe 3/2014
Print ISSN: 0932-0067
Elektronische ISSN: 1432-0711
DOI
https://doi.org/10.1007/s00404-013-3022-6

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