Advertisement

Genetic Disposition

  • Thomas Schlossbauer
  • Karin Hellerhoff
  • Claudia Perlet
  • Friedhelm Raue
  • Stefan Delorme
Part of the Medical Radiology book series (MEDRAD)

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.

Keywords

Breast Cancer Breast Cancer Risk BRCA2 Mutation Medullary Thyroid Carcinoma Medullary Thyroid 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. American College of Radiology (1993) Breast Imaging Reporting and Data System (BI-RADS) American College of Radiology, Reston, VAGoogle Scholar
  2. American College of Radiology (2003) Breast Imaging Reporting and Data System (BI-RADS) American College of Radiology, Reston, VAGoogle Scholar
  3. Antoniou AC, Gayther SA, Stratton JF, Ponder BA, Easton DF (2000) Risk models for familial ovarian and breast cancer. Genet Epidemiol 18:173–190CrossRefPubMedGoogle Scholar
  4. 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 72:1117–1130CrossRefPubMedGoogle Scholar
  5. ASCO (1996) Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol 14:1730Google Scholar
  6. Bowen DJ, Burke W, McTiernan A, Yasui Y, Andersen MR (2004) Breast cancer risk counseling improves women’s functioning. Patient Educ Couns 53:79–86CrossRefPubMedGoogle Scholar
  7. Easton DF, Ford D, Bishop DT (1995) Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 56:265–271PubMedGoogle Scholar
  8. 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):381–388CrossRefPubMedGoogle Scholar
  9. 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 237–254Google Scholar
  10. Kauff ND, Satagopan JM, Roson ME et al. (2002) Risk-reducing salpingo-oophorectomy in women with BRCA1 or BRCA2 mutation. N Engl J Med 346:1609–1615CrossRefPubMedGoogle Scholar
  11. 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 41:2304–2311CrossRefPubMedGoogle Scholar
  12. Kuhl CK (2006) Familial breast cancer: what the radiologist needs to know. Fortschr Röntgenstr 178:680–687CrossRefGoogle Scholar
  13. 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 215:267–279PubMedGoogle Scholar
  14. 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):8469–8476CrossRefPubMedGoogle Scholar
  15. Lehman CD (2006) Role of MRI in screening women at high risk for breast cancer. J Magn Res Imaging 24:964–970CrossRefGoogle Scholar
  16. 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 15:75–83CrossRefPubMedGoogle Scholar
  17. 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 22:735–742CrossRefPubMedGoogle Scholar
  18. 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):263–267CrossRefPubMedGoogle Scholar
  19. 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 345:159–164CrossRefPubMedGoogle Scholar
  20. 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 266:66–71CrossRefPubMedGoogle Scholar
  21. 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 143:362–379PubMedGoogle Scholar
  22. 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/CG014NICEguidelineGoogle Scholar
  23. Parmigiani G, Berry D, Aguilar O (1998) Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 62:145–158CrossRefPubMedGoogle Scholar
  24. 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 12:1463–1470CrossRefPubMedGoogle Scholar
  25. 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):982–990CrossRefPubMedGoogle Scholar
  26. 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 38:23–26CrossRefPubMedGoogle Scholar
  27. Pichert G, Bolliger B, Buser K et al. (2003) Evidence-based management options for women at increased breast/ovarian cancer risk. Ann Oncol 14:9–19CrossRefPubMedGoogle Scholar
  28. 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 22:1055–1062CrossRefPubMedGoogle Scholar
  29. 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 53:141–169PubMedGoogle Scholar
  30. Smith RA, Cokkinides V, Eyre HJ (2006) American Cancer Society guidelines for the early detection of cancer, 2006. CA Cancer J Clin 56:11–25PubMedGoogle Scholar
  31. 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):93–105PubMedCrossRefGoogle Scholar
  32. 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 4:169–173Google Scholar
  33. Vargas HI, Agbunag RV, Khaikhali I (2000) State of the art of minimally invasive breast biopsy: principles and practice. Breast Cancer 7(4):370–379PubMedCrossRefGoogle Scholar
  34. 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 5:70CrossRefPubMedGoogle Scholar
  35. 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):81–89CrossRefPubMedGoogle Scholar
  36. 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 19:3524–3531PubMedGoogle Scholar
  37. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789–792CrossRefPubMedGoogle Scholar

References

  1. 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 311–333Google Scholar
  2. 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 83:770–774CrossRefPubMedGoogle Scholar
  3. 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 86:5658–5671CrossRefPubMedGoogle Scholar
  4. Cohen EG, Shaha AR, Rinaldo A, Devaney KO, Ferlito A (2004) Medullary thyroid carcinoma. Acta Otolaryngol 124:544–557CrossRefPubMedGoogle Scholar
  5. 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 85:905–918CrossRefGoogle Scholar
  6. 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 89:163–168CrossRefPubMedGoogle Scholar
  7. 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 81:1780–1783CrossRefPubMedGoogle Scholar
  8. 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 155:1–9CrossRefGoogle Scholar
  9. Gimm O, Sutter T, Dralle H (2001) Diagnosis and therapie of sporadic and familial medullary thyroid carcinoma. J Cancer Res Clin Oncol 127:156–165CrossRefPubMedGoogle Scholar
  10. 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 28:64–71CrossRefPubMedGoogle Scholar
  11. 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 112:52–58CrossRefPubMedGoogle Scholar
  12. 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 15:531–544CrossRefPubMedGoogle Scholar
  13. Leboulleux S, Baudin E, Travagli JP, Schlumberger M (2004) Medullary thyroid carcinoma. Clin Endorinol 61:299–310CrossRefGoogle Scholar
  14. 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. 349:1517–1525CrossRefPubMedGoogle Scholar
  15. 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 297–309Google Scholar
  16. 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 110:404–407CrossRefGoogle Scholar
  17. 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 91:1797–1800CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

  • Thomas Schlossbauer
    • 1
  • Karin Hellerhoff
    • 1
  • Claudia Perlet
    • 1
  • Friedhelm Raue
    • 2
  • Stefan Delorme
    • 3
  1. 1.Department of Clinical Radiology, University Hospitals GrosshadernLudwig-Maximilians-University of MunichMunichGermany
  2. 2.Endocrine PracticeHeidelbergGermany
  3. 3.Department of RadiologyGerman Cancer Research Center (DKFZ)HeidelbergGermany

Personalised recommendations