Skip to main content
SpringerLink
Log in
Book cover

Screening and Preventive Diagnosis with Radiological Imaging pp 311–328Cite as

Genetic Disposition

  • Chapter

  • 761 Accesses

Part of the book series: Medical Radiology ((Med Radiol Diagn Imaging))

Abstract

Although all women are at high risk for breast cancer, various studies have demonstrated that certain subgroups have a significantly increased probability of developing this disease compared to their same-age counterparts. In the early 1990s, two genes (BRCA1 and BRCA2) have been identified in which mutations are associated with an up to 85% lifetime risk for developing breast cancer. It is estimated that more than 50% of BRCA1 mutation carriers have already developed the disease by age 50 (Easton et al. 1995). In addition, BRCA1 and BRCA2 genes are associated with an increased risk for ovarian cancer. Other genetic predispositions for breast cancer might exist, but have not yet been discovered. Therefore, evaluation of family history for breast and ovarian cancer is of significant importance for the detection of individuals at moderate or high risk. Mammography is the current standard screening method for early diagnosis of breast cancer. However, women at high-risk tend to develop cancer at a younger age, when their tissue is more dense and the detection of small in-situ and invasive cancer is more challenging.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   249.00
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD   219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • American College of Radiology (1993) Breast Imaging Reporting and Data System (BI-RADS) American College of Radiology, Reston, VA

    Google Scholar 

  • American College of Radiology (2003) Breast Imaging Reporting and Data System (BI-RADS) American College of Radiology, Reston, VA

    Google Scholar 

  • Antoniou AC, Gayther SA, Stratton JF, Ponder BA, Easton DF (2000) Risk models for familial ovarian and breast cancer. Genet Epidemiol 18:173–190

    Article  CAS  PubMed  Google Scholar 

  • Antoniou A, Pharoah PD, Narod S et al. (2003) Average risks of breast and ovarian cancer associated with BRCA1 and BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130

    Article  CAS  PubMed  Google Scholar 

  • ASCO (1996) Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol 14:1730

    Google Scholar 

  • Bowen DJ, Burke W, McTiernan A, Yasui Y, Andersen MR (2004) Breast cancer risk counseling improves women’s functioning. Patient Educ Couns 53:79–86

    Article  PubMed  Google Scholar 

  • Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:265–271

    CAS  PubMed  Google Scholar 

  • Hwang ES, Kinkel K, Esserman LJ, Lu Y, Weidner N, Hylton NM (2003) Magnetic resonance imaging in patients diagnosed with ductal carcinoma-in-situ: value in the diagnosis of residual disease, occult invasion, and multicentricity. Ann Surg Oncol 10(4):381–388

    Article  PubMed  Google Scholar 

  • Isaacs CJ, Peshkin BN, Lerman PB (2000) Evaluation and management of women with a strong family history of breast cancer. In: Harris LMJR, Morrow M, Osborne CK (eds) Diseases of the breast, 2nd edn. Williams & Wilkins, Lippincott, Philadelphia pp 237–254

    Google Scholar 

  • Kauff ND, Satagopan JM, Roson ME et al. (2002) Risk-reducing salpingo-oophorectomy in women with BRCA1 or BRCA2 mutation. N Engl J Med 346:1609–1615

    Article  PubMed  Google Scholar 

  • Kirova YM, Stoppa-Lyonnet D, Savignoni A et al. (2005) Risk of breast cancer recurrence and contralateral breast cancer in relation to BRCA1 and BRCA2 mutation status following breast-conserving surgery and radiotherapy (for the Institut Curie Breast Cancer Study Group). Eur J Cancer 41:2304–2311

    Article  PubMed  Google Scholar 

  • Kuhl CK (2006) Familial breast cancer: what the radiologist needs to know. Fortschr Röntgenstr 178:680–687

    Article  CAS  Google Scholar 

  • 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 215:267–279

    CAS  PubMed  Google Scholar 

  • Kuhl CK, Schrading S, Leutner CC, Morakkabati-Spitz N, Wardelmann E, Fimmers R, Kuhn W, Schild HH (2005) Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol 23(33):8469–8476

    Article  PubMed  Google Scholar 

  • Lehman CD (2006) Role of MRI in screening women at high risk for breast cancer. J Magn Res Imaging 24:964–970

    Article  Google Scholar 

  • Lerman C, Schwartz MD, Miller SM, Daly M, Sands C, Rirner BK (1996) A randomized trial of breast cancer risk counseling: interacting effects of counseling, educational level, and coping style. Health Psychol 15:75–83

    Article  CAS  PubMed  Google Scholar 

  • Liede A, Karlan BY, Narod SA (2004) Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 22:735–742

    Article  CAS  PubMed  Google Scholar 

  • Lynch HT, Watson P, Conway T, Fitzsimmons ML, Lynch J (1988) Breast cancer family history as a risk factor for early onset breast cancer. Breast Cancer Res Treat 11(3):263–267

    Article  CAS  PubMed  Google Scholar 

  • Meijers-Heijboer H, van Geel B, van Putten WL et al. (2001) Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159–164

    Article  CAS  PubMed  Google Scholar 

  • Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71

    Article  CAS  PubMed  Google Scholar 

  • Nelson HD, Huffmann LH, Fu R, Harris EL (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: systematic evidence review for the U.S. Preventive Service Task Force. Ann Intern Med 143:362–379

    CAS  PubMed  Google Scholar 

  • NICE Guidelines (2004) Familial breast cancer. The classification and care of women at risk of familial breast cancer in primary, secondary, and tertiary care. In: National Institute of Clinical Excellence (NICE) guidelines 2004. Hobbs, London, pp 1–9. www.nice.org.uk/CG014NICEguideline

    Google Scholar 

  • Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145–158

    Article  CAS  PubMed  Google Scholar 

  • Perlet C, Heinig A, Prat X, Casselman J, Baath L, Sittek H, Stets C, Lamarque J, Anderson I, Schneider P, Taourel P, Reiser M, Heywang-Köbrunner SH (2002) Multicenter study for the evaluation of a dedicated biopsy device for MR-guided vacuum biopsy of the breast. Eur Radiol 12:1463–1470

    Article  CAS  PubMed  Google Scholar 

  • Perlet C, Heywang-Kobrunner SH, Heinig A, Sittek H, Casselman J, Anderson I, Taourel P (2006) Magnetic resonance-guided, vacuum-assisted breast biopsy. Results from a European multicenter study of 538 lesions. Cancer 106(5):982–990

    Article  PubMed  Google Scholar 

  • Petit JY, Greco M (2002) Quality control in prophylactic mastectomy for women at high risk of breast cancer (on behalf of EUSOMA). Eur J Cancer 38:23–26

    Article  CAS  PubMed  Google Scholar 

  • Pichert G, Bolliger B, Buser K et al. (2003) Evidence-based management options for women at increased breast/ovarian cancer risk. Ann Oncol 14:9–19

    Article  CAS  PubMed  Google Scholar 

  • Rebbeck TR, Friebel T, Lynch HT et al. (2004) Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22:1055–1062

    Article  PubMed  Google Scholar 

  • Smith RA, Saslow D, Andrews Sawyer A, Burke W, Costanza ME, Evans WP, Foster RS, Hendrick E, Eyre HJ, Sener S (2003) American Cancer Society guidelines for breast cancer screening: update 2003. CA Cancer J Clin 53:141–169

    PubMed  Google Scholar 

  • Smith RA, Cokkinides V, Eyre HJ (2006) American Cancer Society guidelines for the early detection of cancer, 2006. CA Cancer J Clin 56:11–25

    PubMed  Google Scholar 

  • Sogaard M, Kjaer SK, Gayther S (2006) Ovarian cancer and genetic susceptibility in relation to the BRCA1 and BRCA2 genes. Occurrence, clinical importance and intervention. Acta Obstet Gynecol Scand 85(1):93–105

    Article  PubMed  CAS  Google Scholar 

  • Struewing JP, Lerman C, Kase RG, Giambarresi TR, Tucker MA (1995) Anticipated uptake and impact of gentic testing in hereditary breast and ovarian cancer families. Cancer Epidem Biomar 4:169–173

    CAS  Google Scholar 

  • Vargas HI, Agbunag RV, Khaikhali I (2000) State of the art of minimally invasive breast biopsy: principles and practice. Breast Cancer 7(4):370–379

    Article  CAS  PubMed  Google Scholar 

  • Veronesi A, de Giacomi C, Magri MD et al. (2005) Familial breast cancer: characteristics and outcome of BRCA 1–2 positive and negative cases. BMC Cancer 5:70

    Article  PubMed  CAS  Google Scholar 

  • Viehweg P, Bernerth T, Kiechle M, Buchmann J, Heinig A, Koelbl H, Lariado M, Heywang-Kobrunner SH (2006) MR-guided intervention in women with a family history of breast cancer. Eur J Radiol 57(1):81–89

    Article  CAS  PubMed  Google Scholar 

  • Warner E, Plewes DB, Shumak RS et al. (2001) Comparison of breast magnetic resonance imaging, mammography, and ultrasound for surveillance of women at high risk for heriditary breast cancer. J Clin Oncol 19:3524–3531

    CAS  PubMed  Google Scholar 

  • Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792

    Article  CAS  PubMed  Google Scholar 

References

  • Behr TM, Becker W (2005) Imaging in medullary thyroid cancer. In: Biersack H-J, Grünwald F (eds) Thyroid Ccancer, Ed Biersack. Grünwald, 2nd edn. Springer, Berlin Heidelberg New York, pp 311–333

    Google Scholar 

  • Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grußendorf M, Raue F, Ritter MM, Höppner W (1998) A new hotspot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 83:770–774

    Article  CAS  PubMed  Google Scholar 

  • Brandi ML, Gagel R, Angeli A et al. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658–5671

    Article  CAS  PubMed  Google Scholar 

  • Cohen EG, Shaha AR, Rinaldo A, Devaney KO, Ferlito A (2004) Medullary thyroid carcinoma. Acta Otolaryngol 124:544–557

    Article  PubMed  Google Scholar 

  • Cohen R, Campos JM, Salaün C, Heshmati M, Kraimps JL, Proye C, Sarfati E, Henry JF, Niccoli-Sire P, Modiglioni E (2000) J Clin Endocrinol Metab 85:905–918

    Article  Google Scholar 

  • Elisei R, Bottici V, Luchetti F, Di Coscio G, Romel C, Grasso L, Miccoli P, Iacconi P, Basolo F, Pincera A, Pacini F (2004) Impact of routine measurement of serum calcitonin on the diagnosis and outcome of medullary thyroid cancan: experience in 10864 patients with nodular thyroid disorders. J Clin Endocrinol Metab 89:163–168

    Article  CAS  PubMed  Google Scholar 

  • Frank-Raue K, Höppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH, Raue F and the German Medullary Thyroid Carcinoma Group (1996) Mutations of the RET proto-oncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab 81:1780–1783

    Article  CAS  PubMed  Google Scholar 

  • Frank-Raue K, Buhr H, Dralle H, Klar E, Senninger N, Weber T, Rondot S, Höppner W, Raue F (2006) Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of induvidual RET genotype. Europ J Endocrinol 155:1–9

    Article  CAS  Google Scholar 

  • Gimm O, Sutter T, Dralle H (2001) Diagnosis and therapie of sporadic and familial medullary thyroid carcinoma. J Cancer Res Clin Oncol 127:156–165

    Article  CAS  PubMed  Google Scholar 

  • Hoegerle S, Altehoefer C, Ghanem N, Brink I, Moser E, Nitzsche E (2001) 18F-DODO positron emission tomograpghy for tumour detection in patients with medullary thyroid carcinoma and elevated calcitonin levels. Eur J Nucl Med 28:64–71

    Article  CAS  PubMed  Google Scholar 

  • Karges W, Dralle H, Raue F, Mann K, Reiners C, Grussendorf M, Hüfner M, Niederle B, Brabant G (2004) Calcitonin measurement to detect medullary thyroid carcinoma in the nodular goiter: German evidence-based consensus recommendation. Exp Clin Endocrinol Diabetes 112:52–58

    Article  CAS  PubMed  Google Scholar 

  • Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE, Evans DB (2005) RET Proto-Onkogene: a review and update of genotype-phenotype correlation in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 15:531–544

    Article  CAS  PubMed  Google Scholar 

  • Leboulleux S, Baudin E, Travagli JP, Schlumberger M (2004) Medullary thyroid carcinoma. Clin Endorinol 61:299–310

    Article  Google Scholar 

  • Machens A, Nicolli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Delvox B, Dralle H (2003) Early malignant progression of hereditary medullary thyroid cancer. New Engl J Med. 349:1517–1525

    Article  CAS  PubMed  Google Scholar 

  • Raue F, Frank-Raue K (2005) Diagnosis of medullary thyroid carcinoma. In: Biersack H-J, Grünwald F (eds) Thyroid cancer, 2nd edn. Springer, Berlin Heidelberg New York, pp 297–309

    Google Scholar 

  • Saller B, Moeller L, Görges R, Janssen OE, Mann K (2002) Role of conventional ultrasound and color doppler sonography in the diagnosis of medullary thyroid carcinoma. Exp Clin Endocrinol Diabetes 110:404–407

    Article  Google Scholar 

  • Vitale G, Caraglia M, Ciccarelli A, Lupoli G, Abbruzzese A, Tagliaferri P, Lupoli G (2001) Current approaches and perspectives in the therapy of medullary thyroid carcinoma. Cancer 91:1797–1800

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Clinical Radiology, University Hospitals Grosshadern, Ludwig-Maximilians-University of Munich, Marchioninistrasse 15, 81373, Munich, Germany

    Thomas Schlossbauer MD, Karin Hellerhoff MD & Claudia Perlet MD

  2. Endocrine Practice, Brückenstrasse 21, 69120, Heidelberg, Germany

    Friedhelm Raue MD (Professor)

  3. Department of Radiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany

    Stefan Delorme MD (Professor)

Authors
  1. Thomas Schlossbauer MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Karin Hellerhoff MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Claudia Perlet MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Friedhelm Raue MD
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Stefan Delorme MD
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Clinical Radiology, University Hospitals — Grosshadern and Innenstadt Ludwig-Maximilians-University of Munich, Marchioninistrasse 15, 81377, Munich, Germany

    Maximilian F. Reiser MD (Professor and Chairman) (Professor and Chairman)

  2. German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany

    Gerhard van Kaick MD (Professor Emeritus) (Professor Emeritus)

  3. Department of Clinical Radiology University Hospital Mannheim Medical Faculty Mannheim, University of Heidelberg, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany

    Christian Fink MD (Associate Professor Section Chief Cardiothoracic Imaging) & Stefan O. Schoenberg MD (Professor and Chairman) (Associate Professor Section Chief Cardiothoracic Imaging) &  (Professor and Chairman)

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Schlossbauer, T., Hellerhoff, K., Perlet, C., Raue, F., Delorme, S. (2008). Genetic Disposition. In: Reiser, M.F., van Kaick, G., Fink, C., Schoenberg, S.O. (eds) Screening and Preventive Diagnosis with Radiological Imaging. Medical Radiology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-49831-5_15

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-49831-5_15

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-23553-8

  • Online ISBN: 978-3-540-49831-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation