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BRACAnalysis Clinical References

Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997;60:505-514.

Armstrong K, et al. Assessing risk of breast cancer. N Engl J Med. 2000;342:564-71.

Bell DA, Scully RE, et al. Early de novo ovarian carcinoma: a study of fourteen cases. Cancer. 1994;73:1859-1864.

Beller U, Hulle D, Catane R, et al. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish patients, regardless of family history. Gynecol Oncol. 1997;67:123-126.

Berchuck A, Cirisano F, Lancaster JM, et al. Role of BRCA1 mutation screening in the management of familial ovarian cancer. Am J Obstet Gynecol. 1996;175:738-746.

Bernhart B. Evaluation of nurses as counselors, Evaluation of Nurses & Genetic Counselors as Providers of Education About Breast Cancer Susceptibility Testing. Oncol Nurs Forum. 27:33-39.

Billings PR, Kohn MA, de Cuevas M, et al. Discrimination as a consequence of genetic testing. Am J Hum Genet. 1992;50:476-482.

The Breast Linkage Consortium. Risks in BRCA2 mutation carriers. JNCI. 1999;91:1310-6.

*Burke W, Daly M, Garber J, 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.

The Cancer and Steroid Hormone Study of the Centers for Disease Control and the National Institute of Child Health and Human Development. The reduction in risk of ovarian cancer associated with oral-contraceptive use. N Engl J Med. 1987;316:650-655.

American Cancer Society. Cancer Facts & Figures 1997. Available at: http://www.cancer.org/docroot/stt/stt_0.asp.

From Cause to Cure, New York Times. 10/10/99

Claus EB, Schildkraut JM, Thompson WD, et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318-2324.

Colditz GA, Egan KM, Stampfer MJ. Hormone replacement therapy and risk of breast cancer: results from epidemiological studies. Am J Obstet Gynecol. 1993;168:1473-1480.

Colditz GA, Hankinson SE, Hunter DJ, et al. The use of estrogens and progestins and the risk of breast cancer in postmenopausal women. N Engl J Med. 1995;332:1589-1593.

Couch FJ, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet 1996;13:123-125.

Couch FJ, DeShano ML, Blackwood MA, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med. 1997;336:1409-1415.

Couch FJ, Farid LM, DeShano ML, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genetics. 1996;13:123-125.

*Cummings S, Olopade O. Predisposition testing for inherited breast cancer. Oncology. 1998:81227-1242.

Early Breast Cancer Trialists' Collaborative Group. Systemic treatment of early breast cancer by hormonal, cytotoxic, or immune therapy. 133 randomized trials involving 31,000 recurrences and 24,000 deaths among 75,000 women. Lancet. 1992;339:1-15.

Easton DF, Bishop DT, Ford D, et al. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet. 1993;52:678-701.

Easton DF, Ford D, Bishop T, et al. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 1995;56:265-271.

Easton, DF, Steele L, Fields P, et al. Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13. Am J Hum Genet. 1997;61:120-128.

Fearon ER. Human cancer syndromes: clues to the origin and nature of cancer. Science. 1997;278:1043-1050.

Fisher B, Constantino JP, Wickerham L, et al. Tamoxifen for prevention of breast cancer: Report of the National Surgical Adjuvant Breast and Bowel Project P-1 study. JNCI. 1998;90:18:1371-1388.

FitzGerald MG, MacDonald DJ, Krainer M, et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med. 1996;334:143-149.

Ford D, Easton DF, Bishop DT, et al. Risks of cancer in BRCA1-mutation carriers. Lancet. 1994;343:692-695.

Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676-689.

Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998;6:2417-2425.

*Frank TS. Hereditary risk of breast and ovarian carcinoma: the role of the oncologist. The Oncologist. 1998;3:403-412.

Frank TS. Risk for ovarian cancer: identifying women with inherited risk of ovarian cancer: who and why? Contemporary OB/GYN, December, 1998.

Frank TS, Skolnick M. Pandora or Prometheus? Commentary: testing for hereditary cancer risk. J Clin Endo Metabol. 1999;84:1882-5.

Garber J. Case Study: A 40 year-old Woman with a Strong Family History of Breast Cancer. JAMA. 1999;282:1953-60.

Gail MH, Brinton LA, Byar DP, et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst. 1989;81:1879-1886.

Geller G, Bernhardt BA, Doksum T, et al. Decision-making about breast cancer susceptibility testing: how similar are the attitudes of physicians, nurse practitioners, and at-risk women? J Clin Oncol. 1998;16:2868-2876.

Hall M, Rich S. Laws Restricting Health Insurers' Use of Genetic Information: Impact on Genetic Discrimination. Am J Hum Genet. 2000;66:293-307.

Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 1990;250:1684-1689.

Hammond CB. Menopause and hormonal replacement therapy: an overview. Obstet Gynecol. 1996;87:2S-15S.

Hartmann L, Jenkins R, Schaid D, et al. Prophylactic mastectomy: preliminary retrospective cohort analysis. Am Assoc Cancer Research. 1997;38. Abstract No.1123.

Hartmann L, Schaid D, Woods J, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med. 1999;340:77-84.

*Huelsman K, Huppert J, Fiorica J. Screening your patients for inherited breast and ovarian cancer: how to collect family history data. Contemporary OB/GYN. 1998;46:107-131.

Johannsson OT, Ranstam J, Borg A, Olsson H. Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol. 1998;16:397-404.

Lea, DH. Genetics in Clinical Practice New Directions for Nursing and Health Care. Jones and Bartlett Publishers 1998;ISBN: 0-7637-0542-X.

Learman C. Psychological effects of testing: what you don't know can hurt you: adverse psychological effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol. 1998;16(5).

Learman C, Narod S, Schulman K, et al. BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision-making and outcomes. JAMA. 1996;275:1885-1892.

Malone K. BRCA Mutations in Young Breast CA Cases: Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. American Cancer Society, 3/15/00, Vol. 88, No 6.

Malone KE, Daling JR, Thompson JD, O'Brien CA, Francisco LV, Ostrander EA. BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history. JAMA. 1998;279:922-929.

Miki Y, Swensen J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 1994;266:66-71.

Milner J, Ponder B, Hughes-Davies L, et al. Transcriptional activation functions in BRCA2. Nature. 1997;386:772-773.

Monteiro AN, August A, Hanafusa H. Evidence for a transcriptional activation function of BRCA1 C-terminal region. Pro Nat Acad Sci U S A. 1996;93:13595-13599.

NCI Surveillance, Epidemiology, and End Results Program. 1995.

NIH Consensus Development Panel on Ovarian Cancer: ovarian cancer, screening, treatment, and follow-up. JAMA. 1995;273:491-497.

Narod SA, Risch H, Moslehi R, et al. Oral contraceptives and the risk of hereditary ovarian cancer. N Engl J Med. 1998;339:424-428.

Oddoux C, Streuwing JP, Calyton CM, et al: The carrier frequency of the BRCA2 617delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet. 1996;14:188-190.

Offit K. Clinical Cancer Genetics Risk Counseling and Management. Wiley-Liss Publishers. 1998;ISBN: 0-471-14655-2.

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

Petrij-Bosch A, Peelen T, van Vliet M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet. 1997;17:341-345.

Piver MS, Baker TR, Jishi MF, et al. Familial ovarian cancer: a report of 658 families from the Gilda Radner Familial Ovarian Cancer Registry 1981-1991. Cancer. 1993;71:582-588.

Piver MS, Jishi MF, Tsukada Y, et al. Primary peritoneal cancer after prophylactic oophorectomy in women with a family history of ovarian cancer. Cancer. 1993;71:2751-5.

Ponder B. Genetic testing for cancer risk. Science. 1997;278:1050-1054.

Prouser N: Patient case report: genetic susceptibility testing for breast and ovarian cancer: a patient's perspective. J Genet Counsel. 2000;9:153-9.

Rajan JV, Wang M, Marquis ST, Chodosh LA. BRCA2 is coordinately regulated with BRCA1 during proliferation and differentiation in mammary epithelial cells. Pro Nat Acad Sci U S A. 1996;93:13078-13083.

Rebbeck T, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. JNCI. 1999;91:1475-1479.

Roa BB, Boyd AA, Volcik K, et al. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996;14:185-187.

Robson M, Gilewski T, Haas B, et al. BRCA-associated breast cancer in young women. J Clin Oncol. 1998;16:1642-1649.

Schneider KA. Counseling About Cancer: Strategies for Genetic Counselors.1994. Available from the Division of Cancer Epidemiology and Control, Dana-Faber Cancer Institute.

Schrag D, Kuntz KM, Garber JE, et al. Decision analysis-effects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 and BRCA2 mutations. N Engl J Med. 1997;336:1465.

Schrag D. Life expectancy gains from cancer prevention strategies for women with breast cancer and BRCA1 or BRCA2 mutations. JAMA. 2000;283:617-24.

Scully R, Chen J, Plug A, et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 1997;88:265-275.

SEER data. Science. 1993;259:618.

Sharan SK, Morimatsu M, Albrecht U, et al. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking BRCA2. Nature. 1997;386:804-810.

Shattuck-Eidens D, Oliphant A, McClure M, et al. BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing. JAMA. 1997;278:1242-1250.

Shepard, et al. Testing for genetic susceptibility to ovarian and breast cancer. Contemporary OB/GYN, March 1998.

Statement of the American Society of Clinical Oncology. Genetic testing for cancer susceptibility. J Clin Oncol 1996;14:1730-1736.

Struewing JP, Abeliovich D, Peretz T, et al: The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11;198-200.

Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336:1401-1408.

Streuwing JP, Watson P, Easton DF, et al. Prophylactic oophorectomy in inherited breast/ovarian cancer families. Monogr Natl Cancer Inst 1994;17:33-35.

Tavtigian SV, Simard J, Rommens J, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet. 1996;12:333-337.

Thorlacius S, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied phenotypes. Nat Genet. 1996;13:117-119.

Tobacman JK, Greene MH, Tucker MA, et al. Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian cancer-prone families. Lancet. 1982;2:795-7.

Verhoog LC, Brekelmans CTM, Seynaeve C, et al. Survival and tumor characteristics of breast cancer patients with germline mutations of BRCA1. Lancet. 1998;351:316-321.

Vogelstein B, Knizler K. The Genetic Basis of Human Cancer. McGraw Hill Companies. 1998;ISBN: 0-07-067596-1.

Wadler J. Cancer Redyx: When I beat cancer.... (Story) New York, September 15, 1997.

Whittemore AS, Gong G, Itnyre J, et al. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet 1997;60:496-504.

Wooster R, Bignell G, Lancaster J, et al. Identification of the breast-cancer susceptibility gene BRCA2. Nature 1995;378:789-792.

Wooster R, Neuhausen SL, Mangio J, et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science. 1994;265:2088-2090.

* These articles are excellent overviews of their topic matter. They are easy to read and provide important information in a clear, concise manner.

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