Diagnosis of breast cancer in women age 40 and younger: Delays in diagnosis result from underuse of genetic testing and breast imaging 95% of patients.

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Diagnosis of breast cancer in women age 40 and younger: Delays in diagnosis result from underuse of genetic testing and breast imaging 95% of patients had mammogram at or after diagnosis; for 81% of patients in the study, diagnostic mammogram detecting breast cancer was first mammogram for patient Many of these patients were at increased risk of breast cancer based on family history but weren’t receiving extra screening through mammogram or MRI 12% of patients who underwent MRI AFTER mammogram had ipsalateral or contralateral breast cancer identified  Cancers might have been picked up at an earlier stage, or even possibly prevented if first tumor was detected and treated before second tumor developed Only 1.4% of tumors would have been missed in this study if mammogram and MRI screening had been used This data supports the ACS recommendations for breast MRI in adjunct to mammogram for high risk women

Surveillance for Breast and Ovarian Cancer The National Comprehensive Cancer Network, recommends the initiation of clinical breast examinations, mammography, and MRI at age 25. Magnetic resonance imaging (MRI) has been shown to identify precancerous and cancerous lesions that were missed by mammography2,4,6,11, 12, 14 especially in BRCA1/2 carriers.10, 15 In April of 2007, the American Cancer Society created guidelines for use of MRI in adjunct to mammograms in women positive for BRCA 1/2 mutations as well as other high risk groups.13 Warner et al. compared the effectiveness of mammography, breast ultrasound, and magnetic resonance imaging (MRI) for surveillance of women at increased familial risk for breast cancer.5 The findings showed that mammography alone, and mammography combined with breast ultrasound, appears to be insufficient for early diagnosis of breast cancer in women who are at increased familial risk. Furthermore, there are data to support that exposure to ionizing radiation through routine screening mammography does not increase the breast cancer risk in BRCA1 and BRCA2 mutation carriers. These recommendations are in contrast to the NCCN breast cancer screening recommendations for women in the general population (defined as “normal risk”), which, for those between ages 20y and 40y, include clinical breast examinations (CBE) every 1 to 3 years, and “breast awareness”, which includes periodic, consistent breast self exams (BSE). For those over the age of 40y, annual CBE and mammogram, as well as breast awareness, are recommended. In contrast to breast cancer screening, surveillance for ovarian cancer is often ineffective. Even though such screening tests at present are not considered effective for screening a population at large, their use may be justified for women with hereditary risk who wish to maintain fertility.16-20 New techniques for ovarian cancer surveillance is an area of active research due to the recognized limitations of current practices offered for ovarian cancer surveillance. References: Stoutjesdijk MJ, et al. Magnetic resonance imaging and mammography in women with a hereditary risk of breast cancer. JNCI. 2001;93:1095-1102. Hartman AR, et al. Breast magnetic resonance image screening and ductal lavage in women at high genetic risk for breast carcinoma. Cancer. 2004;100:479-89. Kriege M, et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. NEJM. 2004;351:427-37. Leach MO, et al. 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. 2005 May 21-27;365(9473):1769-78. Warner E, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA. 2004 Sep 15;292(11):1317-25. BlueCross BlueShield Association. Magnetic resonance imaging of the breast in screening women considered to be at high genetic risk of breast cancer. 2003. NCCN Clinical Practice Guidelines in Oncology: http://www.nccn.org/professionals/physician_gls/f_guidelines.asp (Genetic/Familial High-Risk Assessment: Breast and Ovarian; Breast Cancer Screening and Diagnosis) Kuhl CK, et al. Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. JCO. 2005 Nov 20;23(33):8469-76. Narod, et al. Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet Oncol. 2006 May;7(5):402-6. Kreige M, et al. Factors affecting sensitivity and specificity of screening mammography and MRI in women with an inherited risk for breast cancer. Breast Cancer Res Treat. 2006 Nov;100(1):109-19. Kreige M, et al. Tumor Characteristics and detection method in the MRISC screening program for early detection of hereditary breast cancer. Breast Cancer Res Treat. 2007 May;102(3):357-63. Dent, et al. Screening for Hereditary Breast Cancer. Semin Oncol. 2007 Oct;34(5):392-400. Saslow, et al. American cancer society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89. Sardanelli F, et al. Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results. Radiology. 2007 Mar;242(3):698-715. Granader EJ, et al. MRI and mammography surveillance of women at increased risk for breast cancer: recommendations using an evidence-based approach. Acad Radiol. 2008 Dec;15(12):1590-5. 16. NIH Consensus Development Panel on Ovarian Cancer. Ovarian Cancer. Screening, treatment and follow-up. JAMA. 1995;273:491- 497. 17. Burke W, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA. 1997;277:997-1003. 18. Berchuck A, et al. Role of BRCA1 mutation screening in the management of familial ovarian cancer. American Journal of Obstetrics & Gynecology. 1996;175:738-746. 19. Robson ME. Clinical considerations in the management of individuals at risk for hereditary breast and ovarian cancer. Cancer Control. 2002;9:457-465. Narod SA, Offit K. Prevention and management of hereditary breast cancer. J Clin Oncol. 2005 Mar 10;23(8):1656-63.