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| |  Genetic Testing, Breast Imaging Is Warranted in Young Women at High Risk for Breast Cancer: Presented at ASBS By Kristina Rebelo SAN DIEGO -- April 23, 2009 -- In women aged older than 40 years who also have high-risk factors for breast cancer, genetic testing along with mammographic and magnetic resonance imaging (MRI) screening is warranted and can improve early detection in this population, researchers stated here at the American Society of Breast Surgeons (ASBS) 10th Annual Meeting. Researchers found that in a cohort of 628 women aged 40 years and younger (median age 37 years) diagnosed with breast cancer between 1996 and 2008; 71% of the cases were initially diagnosed by breast self-exam as opposed to the remaining 29% that were found through screening mammograms (24%), MRI (1%), or a clinical exam (4%). "Breast cancer in women under 40 is increasing around the world, particularly in the Pacific Rim," said Barbara L. Smith, MD, Department of Surgery, Harvard Medical School, and Comprehensive Breast Health Center, Massachusetts General Hospital, Boston, Massachusetts, in a webinar on April 22. "Early detection is a challenge, sometimes due to [breast] density and these women not getting mammograms, so they are presenting with a higher stage of disease. The medical system ought to be able to recognise and test young women with a family history of breast cancer; perhaps doing a family history and assessing risk factors for a variety of cancers should become a protocol and if the risk is beyond a certain level, the physician should initiate imaging studies and genetic testing." Of the women, 50% (n = 314) had a family history of breast and/or ovarian cancer, but it was only after diagnosis that the women had genetic testing (40% of study patients). Of this population, 25% were positive for a BRCA gene mutation (61/247). There was no difference in predigital mammography versus digital mammography. Only at, or following diagnosis, did 95% of patients have a mammogram with 86% (511/595) having abnormal results and 14% (81/595) being viewed as normal. Of the 264 patients who had an MRI at or following diagnosis, 85% of the results confirmed the suspected or known tumour; 10% showed additional foci of cancer; and only 5% were found to be normal. Of the 255 patients who had both a mammogram and an MRI at time of diagnosis, 1.6% of the cancers (n = 4) were not visualised. "Half of the tumours analysed in the study were over 2 cm in size at the time of initial detection; fewer than 2% were too small to be detectable by mammography and/or MRI," said Dr. Smith. "The average size of a tumour when it's initially detected by mammography is 1.3 or 1.4 cm and under 1 cm with MRI detection -- 2 cm is big." The results of the study "underscore the importance of identifying young women who are at high risk, performing appropriate genetic testing, and delivering appropriate mammographic and MRI screening."
[Presentation title: Diagnosis of Breast Cancer in Women Age 40 and Younger: Delays in Diagnosis Are Common Due to Underutilization of Genetic Testing and Breast Imaging.]
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