Network News - Winter/Spring 2010 - Canadian Breast Cancer ...

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Other Risks Rare families with BRCA1/2 mutations may report an increased incidence of pancreatic cancer and melanoma. Inheritance BRCA1 or BRCA2 mutations are inherited in an autosomal dominant pattern. That is, an individual who carries one of these mutations has a 50% risk of passing it on to any child, whether the child is male or female. Monitoring in Individuals with a BRCA1 or BRCA2 mutation Note: May be modified for previous surgery/treatment and current health status 1. Monthly self-breast exam (including males), from age 18 2. Twice yearly physician breast exam (including males), from age 25 3. Yearly mammogram, from age 25-30. This can also be done on males with breast enlargement (gynecomastia). Based on the mammogram, the radiologist may recommend ultrasound and/or MRI to some individuals 4. Twice yearly pelvic exam with CA-125 measurement and transvaginal ultrasound for females, from age 35. Unfortunately, this screening has many false positives and false negatives 5. Yearly digital rectal exam and PSA measurement for males, from age 50 6. Other screening as indicated by family history Prevention – Surgery and Chemoprevention The program is designed to offer cancer risk assessment, genetic counselling and, when appropriate, arrange genetic testing in patients at high risk for hereditary cancer (cancer associated with mutations in known cancer susceptibility genes). Contact: By Phone: (780) 407-7333 By Fax: (780) 407-6845 By Mail: Medical Genetics Clinic University of Alberta 8-53 Medical Sciences Building Edmonton, Alberta T6G 2H7 Consideration of preventive (prophylactic) bilateral total mastectomy, with or without reconstruction, may be considered by women with BRCA1 or BRCA2 mutations. This reduces the risk of breast cancer by up to 90%. Prophylactic oophorectomy (removal of the ovaries) should be considered by women with BRCA1 or BRCA2 mutations, ideally between the ages of 35-40, or upon completion of child-bearing. The risk for breast cancer is reduced by up to 50% by oophorectomy in the 30’s. Oophorectomy, at any age, reduces the risk for ovarian cancer by up to 95%. The remaining risk is for primary peritoneal carcinomatosis (cancer of the lining of the pelvic cavity). As most BRCA1 tumours are hormone receptor negative, it is unlikely that the prophylactic use of Tamoxifen or Raloxifene would be of benefit. Most BRCA2 tumours are estrogen receptor positive. Therefore, the prophylactic use of Tamoxifen or Raloxifene may be of benefit to carriers of BRCA2 mutations, particularly if they are post- menopausal. This should be discussed with the family doctor, gynecologist or oncologist. • References National Comprehensive Cancer Network (www.nccn.org). Meta-Analysis of BRCA1 and BRCA2 Penetrance. J Clin Onc 25(11): 1329-1333, 2007. Dr. Dawna M. Gilchrist, M.D., FRCPC, FCCMG, DHMSA; has been on staff with the Faculty of Medicine and Dentistry at the University of Alberta (UofA) since 1990. Currently, she is a Clinician- Teacher for UofA’s Department of Medical Genetics and is an Adjunct Professor for both the Department of Medicine and the Department of Pediatrics. She also serves as the Director for the university’s History of Medicine Program. Dr. Gilchrist first attended the University of Alberta, graduating in 1972 in Biology, and then continued there to obtain her BSc. Specialization in Genetics (1979) and M.D. (1983). Additionally, she received her diploma in the history of medicine from the Society of Apothecaries in London, UK (2002). Dr. Gilchrist’s areas of expertise include genetic disorders of adult onset; particularly, genetic cancer, inherited disorders of connective tissue and inherited neurodegenerative disorders. She is a fellow of the Canadian College of Medical Geneticists. In Edmonton, How to Obtain Referral to the Edmonton Cancer Genetics Clinic Clinic Protocol 1. Referral (letter preferred) by specialist or primary care physician to the Cancer Genetics Clinic. 2. Preliminary workup by us – pedigree construction and obtaining/reviewing medical records. 3. Appointment made with patient/family. 4. First appointment. Contents to include: assessment of hereditary cancer risk in patient/family; discussion of potential molecular testing including risks/benefits/ limitations; recommendations for clinical management. Letter sent to patient(s), referring physician, and other physician(s) as designated by patient. 12 Network News Winter/Spring 2010
5. Where possible, and if patient/family interested, genetic testing proceeds. Except in VERY exceptional circumstances, this testing is possible only if there is a living cancer survivor in the family, and this individual is willing to participate. 6. Results relayed back to patient/family in second appointment. Further discussion of genetic cancer risk in patient/family; recommendations for clinical management. Letter sent to patient(s), referring physician, and other physician(s) as designated by patient. 7. If a pathogenic mutation is identified, other family members may request counselling/testing. Referral Criteria – Hereditary Breast or Breast- Ovarian Cancer 1. Relatives of an individual with a confirmed pathogenic BRCA1 or BRCA2 mutation. Breast Cancer 1. Personal history of breast cancer diagnosed before age 40. 2. Personal history of breast cancer diagnosed before age 50, AND a first or second degree relative with breast cancer diagnosed before age 50. 3. Personal history of breast cancer, AND two related family members with breast cancer diagnosed at any age, spanning two generations. 4. Personal history of more than one primary breast cancer, one diagnosed before age 50. 5. Personal history of “triple negative” tumour (ER-ve, PR-ve, Her2-ve), diagnosed before age 50 Ovarian Cancer 1. Personal history of invasive serous ovarian cancer diagnosed at any age. 2. Personal history of ovarian cancer* diagnosed before age 50. 3. Personal history of ovarian cancer* diagnosed at any age, AND a first or second degree relative diagnosed with ovarian cancer* at any age. *ovarian cancer refers to invasive non-mucinous epithelial ovarian cancer, and includes primary peritoneal cancers and primary fallopian tube cancers. Breast and Ovarian Cancer 1. Personal history of both breast and ovarian cancer* diagnosed at any age. 2. Personal history of breast cancer diagnosed before age 50 AND a first or second degree relative with ovarian cancer* at any age. 3. Personal history of male breast cancer diagnosed before age 65 Ashkenazi Jewish Ancestry 1. Personal history of breast or ovarian cancer* diagnosed any age (genetic testing is limited to the Ashkenazi mutation panel followed by a full screen ONLY for individuals who meet another criteria). 2. Unaffected individuals with a first degree relative with breast cancer diagnosed before age 50, ovarian cancer* diagnosed at any age, male breast cancer diagnosed at any age, or multiple related relatives with breast and/or ovarian cancer*diagnosed at any age (genetic testing is limited to the Ashkenazi mutation panel ONLY). Other 1. Families who have a significant clustering (above general population prevalence) of breast and/or ovarian cancer, but who do NOT meet above criteria (for assessment only). Referral Criteria – Hereditary Colorectal Cancer 1. Relatives of an individual with a confirmed pathogenic FAP or Lynch (HNPCC) mutation Familial Adenomatous Polyposis (FAP) 1. Firm, clinical diagnosis of FAP in patient or firstdegree relative Ashkenazi Jewish Ancestry 1. Any individual of Ashkenazi Jewish descent with a personal or family history of colorectal cancer in a first degree relative may be tested for the APC mutation I1307K. Lynch Syndrome (formerly known as Hereditary Non- Polyposis Colorectal Cancer (HNPCC)** 1. Three family members with colorectal or colorectal PLUS related cancer (stomach, pancreas, gallbladder, endometrium, ovary, kidney, ureter, bladder, small bowel) ie. Modified Amsterdam Criteria. One cancer must be diagnosed under the age of 50; one affected individual must be a first degree relative of the other two; at least two successive generations must be affected. 2. Tumour IHC results suggestive of a germline mutation in the patient or deceased first degree relative. ** Individuals meeting Bethesda criteria for possible Lynch Syndrome should first have MSI (microsatellite instability) and/or IHC (immunohistochemistry) testing on their tumour(s). These tests of performed by pathology. Referral Criteria – Other Specific Hereditary Cancer Syndromes 1. Individuals/families with suspected or known hereditary cancer syndromes (such as Multiple Endocrine Neoplasia, von Hippel-Lindau syndrome, Li-Fraumeni, other) Network News Winter/Spring 2010 13
Page 1 and 2: Canadian Breast Cancer Network Wint
Page 3 and 4: e part of a remarkable Board of Dir
Page 5 and 6: CBCN Board Members, staff and parti
Page 7 and 8: carry a BRCA mutation. If you would
Page 9 and 10: January 2009 and after several scan
Page 11: What is BRCA? By Dawna M. Gilchrist
Page 15 and 16: Hormone Therapy After Risk Reducing
Page 17 and 18: Knowledge is Power Interview with J
Page 19 and 20: Informing Women of the Risks and Be
Page 21 and 22: Susan Armel is the senior genetic c
Page 23 and 24: BRCA1/2 Testing: Navigating Through
Page 25 and 26: having surgery but is not currently
Page 27 and 28: the risk of hereditary cancer. A ri
Page 29 and 30: At present, we are recruiting women
Page 31 and 32: Familial Breast Cancer and No BRCA1
Page 33 and 34: ‘E’ is for Empowered - Are You
Page 35 and 36: Continued from Page 30 Top 10 Thing

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