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1
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0036178190
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Current understanding of the epidemiology and clinical implications of BRCA1 and BRCA2 mutations for ovarian cancer
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Narod SA, Boyd J. Current understanding of the epidemiology and clinical implications of BRCA1 and BRCA2 mutations for ovarian cancer. Curr Opin Obstet Gynecol 2002; 14:19-26. This is a comprehensive review of the clinical aspects of hereditary ovarian cancer, with thorough reviews of management options based on clinical outcome and treatment effect studies.
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(2002)
Curr Opin Obstet Gynecol
, vol.14
, pp. 19-26
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Narod, S.A.1
Boyd, J.2
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2
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0037685164
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Genomic medicine: Breast and ovarian cancer
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Wooster R, Weber BL. Genomic medicine: breast and ovarian cancer. N Engl J Med 2003; 348:2339-2347. This exhaustive review covers important genetic discoveries related to breast and ovarian cancer, describes the application of genomics technologies to identify additional susceptibility genes, and presents early applications of molecular profiling using microarrays.
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(2003)
N Engl J Med
, vol.348
, pp. 2339-2347
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Wooster, R.1
Weber, B.L.2
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3
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0037216997
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Breast cancer genetics in African Americans
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Olopade OI, Fackenthal JD, Dunston G, et al. Breast cancer genetics in African Americans. Cancer 2002; 97 (Suppl. 1):236-245.
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(2002)
Cancer
, vol.97
, Issue.1 SUPPL.
, pp. 236-245
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Olopade, O.I.1
Fackenthal, J.D.2
Dunston, G.3
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4
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0037961254
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Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado
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Mullineaux LG, Castellano TM, Shaw J, et al. Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. Cancer 2003; 98:597-502. This is an example of how the discovery of a founder mutation in a population can simplify genetic screening for members of that population.
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(2003)
Cancer
, vol.98
, pp. 597-1502
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Mullineaux, L.G.1
Castellano, T.M.2
Shaw, J.3
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5
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0036605379
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BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes
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Berry D, Iversen E, Gudbjartssan D, et al. BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 2002; 20:2701-2712.
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(2002)
J Clin Oncol
, vol.20
, pp. 2701-2712
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Berry, D.1
Iversen, E.2
Gudbjartssan, D.3
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6
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0036730852
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Population-based screening for hereditary breast cancer in a region of north-central Italy
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Casadei S, Falcini F, Naldoni C, et al. Population-based screening for hereditary breast cancer in a region of north-central Italy. Int J Mol Med 2002; 10:299-305.
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(2002)
Int J Mol Med
, vol.10
, pp. 299-305
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Casadei, S.1
Falcini, F.2
Naldoni, C.3
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7
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0142178215
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Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2
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King, MC, Marks JH, Mandell JB, and the New York Breast Cancer Study Group. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003; 302:643-646. This is a large study that gave fairly definitive risk values for mutation carriers. The unusual finding was the increased risk of breast cancer in different birth cohorts, suggesting environmental modification(s) of the increased genetic risk.
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(2003)
Science
, vol.302
, pp. 643-646
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King, M.C.1
Marks, J.H.2
Mandell, J.B.3
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8
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0242335650
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BRCA1 c.2845insa is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ ovarian cancer
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Sng J-H, Ali AB, Lee SC, et al. BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ ovarian cancer. J Med Genet 2003; 40:e117. Available at http://www. jmedgenet.com/cgi/ content/full/40/10/e117, accessed 23 November 2003. This is the first report of mutation frequencies in this ethnic group, with one common mutation found.
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(2003)
J Med Genet
, vol.40
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Sng, J.-H.1
Ali, A.B.2
Lee, S.C.3
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9
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0037397542
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Issues of consent and feedback in a genetic epidemiological study of women with breast cancer
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Richards MPM, Ponder M, Pharoah P, et al. Issues of consent and feedback in a genetic epidemiological study of women with breast cancer. J Med Ethics 2003; 29:93-96.
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(2003)
J Med Ethics
, vol.29
, pp. 93-96
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Richards, M.P.M.1
Ponder, M.2
Pharoah, P.3
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10
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0037398070
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Balancing autonomy and responsibility: The ethics of generating and disclosing genetic information
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Hallowell N, Foster C, Eeles R, et al. Balancing autonomy and responsibility: the ethics of generating and disclosing genetic information. J Med Ethics 2003; 29:74-83. This study is a nice summary for non-geneticists of the complications encountered when working with one patient who subsequently works with relatives to transmit information about the relatives' risk status.
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(2003)
J Med Ethics
, vol.29
, pp. 74-83
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Hallowell, N.1
Foster, C.2
Eeles, R.3
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11
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0037183679
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Tailoring communication in consultations with women from high-risk breast cancer families
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Lobb EA, Butow PN, Meiser B, et al. Tailoring communication in consultations with women from high-risk breast cancer families. Br J Cancer 2002; 87:502-508.
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(2002)
Br J Cancer
, vol.87
, pp. 502-508
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Lobb, E.A.1
Butow, P.N.2
Meiser, B.3
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12
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0036727809
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A population-based study of Ashkenazi Jewish women's attitudes toward genetic discrimination and BRCA1/2 testing
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Lehmann LS, Weeks JC, Klar N, Garber JE. A population-based study of Ashkenazi Jewish women's attitudes toward genetic discrimination and BRCA1/2 testing. Genet Med 2002; 4:346-352.
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(2002)
Genet Med
, vol.4
, pp. 346-352
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Lehmann, L.S.1
Weeks, J.C.2
Klar, N.3
Garber, J.E.4
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13
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0036591547
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Progress of a comprehensive familial cancer genetic counseling program in the era of BRCA1 and BRCA2
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Hartenbach EM, Becker JM, Grosen EA, et al. Progress of a comprehensive familial cancer genetic counseling program in the era of BRCA1 and BRCA2. Genet Test 2002; 6:75-78.
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(2002)
Genet Test
, vol.6
, pp. 75-78
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Hartenbach, E.M.1
Becker, J.M.2
Grosen, E.A.3
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14
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0036591550
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Pre-counseling education materials for BRCA testing: Does tailoring make a difference?
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Skinner CS, Schildkraut JM, Berry D, et al. Pre-counseling education materials for BRCA testing: does tailoring make a difference? Genet Test 2002; 6:93-105. This study demonstrates the advantages of personalized teaching materials for patients.
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(2002)
Genet Test
, vol.6
, pp. 93-105
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Skinner, C.S.1
Schildkraut, J.M.2
Berry, D.3
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15
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0036591551
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What does my doctor think? Preferences for knowing the doctor's opinion among women considering clinical testing for BRCA1/2 mutations
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Armstrong K, Stopfer J, Calzone K, et al. What does my doctor think? Preferences for knowing the doctor's opinion among women considering clinical testing for BRCA1/2 mutations. Genet Test 2002; 6:115-118. This study was the first to measure patients' interest in their doctor's opinion about the appropriateness of genetic testing. Physicians should take note that many patients are not interested in their doctor's opinion, but would rather make decisions regarding testing on their own.
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(2002)
Genet Test
, vol.6
, pp. 115-118
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Armstrong, K.1
Stopfer, J.2
Calzone, K.3
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16
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0037033695
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Changes in psychological distress after cancer genetic counseling: A comparison of affected and unaffected women
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Bish A, Sutton S, Jacobs C, et al. Changes in psychological distress after cancer genetic counseling: a comparison of affected and unaffected women. Br J Cancer 2002; 86:43-50.
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(2002)
Br J Cancer
, vol.86
, pp. 43-50
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Bish, A.1
Sutton, S.2
Jacobs, C.3
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17
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0037080277
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Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample
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Schwartz MD, Peshkin BN, Hughes C, et al. Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol 2002; 20:514-520.
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(2002)
J Clin Oncol
, vol.20
, pp. 514-520
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Schwartz, M.D.1
Peshkin, B.N.2
Hughes, C.3
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18
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0033928675
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Prophylactic surgery decision and surveillance practices one year following BRCA1/2 testing
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Lerman C, Hughes C, Croyle RT, et al. Prophylactic surgery decision and surveillance practices one year following BRCA1/2 testing. Prevent Med 2000; 31:75-80.
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(2000)
Prevent Med
, vol.31
, pp. 75-80
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Lerman, C.1
Hughes, C.2
Croyle, R.T.3
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19
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0036172985
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Breast and ovarian cancer screening practices in healthy women with a strong family history of breast or ovarian cancer
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Isaacs C, Peshkin B, Schwartz M, et al. Breast and ovarian cancer screening practices in healthy women with a strong family history of breast or ovarian cancer. Breast Cancer Res Treatment 2002; 71:103-112.
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(2002)
Breast Cancer Res Treatment
, vol.71
, pp. 103-112
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Isaacs, C.1
Peshkin, B.2
Schwartz, M.3
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20
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0036498727
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Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers
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Scheuer L, Kauff N, Robson M, et al. Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 2002; 20:1260-1268.
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(2002)
J Clin Oncol
, vol.20
, pp. 1260-1268
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Scheuer, L.1
Kauff, N.2
Robson, M.3
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21
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0036164587
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Health insurance and discrimination concerns and BRCA1/2 testing in a clinic population
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Peterson E, Milliron K, Lewis K, et al. Health insurance and discrimination concerns and BRCA1/2 testing in a clinic population. Cancer Epidemiol, Biomarkers Prevent 2002; 11:79-87. This study confirms other reports of the high level of concern patients have regarding the perceived threats to their own insurability and that of their relatives.
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(2002)
Cancer Epidemiol, Biomarkers Prevent
, vol.11
, pp. 79-87
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Peterson, E.1
Milliron, K.2
Lewis, K.3
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22
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0037309380
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Knowledge and attitudes of gynecologists regarding genetic counseling for hereditary breast and ovarian cancer
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Mehnert A, Bergelt C, Koch U. Knowledge and attitudes of gynecologists regarding genetic counseling for hereditary breast and ovarian cancer. Patient Educ Counsel 2003; 49:183-188.
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(2003)
Patient Educ Counsel
, vol.49
, pp. 183-188
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Mehnert, A.1
Bergelt, C.2
Koch, U.3
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23
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1242334992
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Mutations spectrum of the BRCA1 and BRCA2 genes in western Sweden
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Bergman A, Engwall Y, Lundberg J, et al. Mutations spectrum of the BRCA1 and BRCA2 genes in western Sweden [Abstract]. Am J Hum Genet 2003; 73:362.
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(2003)
Am J Hum Genet
, vol.73
, pp. 362
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Bergman, A.1
Engwall, Y.2
Lundberg, J.3
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24
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1242267441
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BRCA1/BRCA2 missense mutations in African-American breast cancer patients
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Baumbach L, Gayol L, Monteiro L, et al. BRCA1/BRCA2 missense mutations in African-American breast cancer patients [Abstract]. Am J Hum Genet 2003; 73:364.
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(2003)
Am J Hum Genet
, vol.73
, pp. 364
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Baumbach, L.1
Gayol, L.2
Monteiro, L.3
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25
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BRCA1/2 mutation spectrum and frequencies in Belgian breast/ovarian cancer families
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Claes K, Poppe B, Coene I, et al. BRCA1/2 mutation spectrum and frequencies in Belgian breast/ovarian cancer families [Abstract]. Am J Hum Genet 2003; 73:365.
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(2003)
Am J Hum Genet
, vol.73
, pp. 365
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Claes, K.1
Poppe, B.2
Coene, I.3
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26
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Cancer variation associated with the position of BRCA2 gene mutation
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Phelan CM, Lubinski J, Ghadirian P, et al. Cancer variation associated with the position of BRCA2 gene mutation [Abstract]. Am J Hum Genet 2003; 73:413.
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(2003)
Am J Hum Genet
, vol.73
, pp. 413
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Phelan, C.M.1
Lubinski, J.2
Ghadirian, P.3
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27
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Unbiased estimates of breast and ovarian cancer penetrances in BRCA1/2 mutation carriers using genetic test results
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Marroni F, Aretini P, Bailey-Wilson JE, et al. Unbiased estimates of breast and ovarian cancer penetrances in BRCA1/2 mutation carriers using genetic test results [Abstract]. Am J Hum Genet 2003; 73:378.
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(2003)
Am J Hum Genet
, vol.73
, pp. 378
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Marroni, F.1
Aretini, P.2
Bailey-Wilson, J.E.3
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28
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Screening for BRCA1 and BRCA2 germ line point mutations in 600 Italian families with breast and/or ovarian cancer: Mutation prevalence according to phenotype
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Pasini B, Manoukian S, Pensotti V, et al. Screening for BRCA1 and BRCA2 germ line point mutations in 600 Italian families with breast and/or ovarian cancer: mutation prevalence according to phenotype [Abstract]. Am J Hum Genet 2003; 73:408.
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(2003)
Am J Hum Genet
, vol.73
, pp. 408
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Pasini, B.1
Manoukian, S.2
Pensotti, V.3
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29
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Cancer screening adherence in breast/ovarian cancer families
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Wood ME, Grossman CI, McKinnon WC, et al. Cancer screening adherence in breast/ovarian cancer families [Abstract]. Am J Hum Genet 2003; 73:410.
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(2003)
Am J Hum Genet
, vol.73
, pp. 410
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Wood, M.E.1
Grossman, C.I.2
McKinnon, W.C.3
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30
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Inherit BRCAs. No evidence of recurrent BRCA1/2 genomic rearrangement in high risk French-Canadian breast/ovarian cancer families
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Moisan AM, Fortin J, Dumont M, et al. INHERIT BRCAs. No evidence of recurrent BRCA1/2 genomic rearrangement in high risk French-Canadian breast/ovarian cancer families [Abstract]. Am J Hum Genet 2003; 73:417.
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(2003)
Am J Hum Genet
, vol.73
, pp. 417
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Moisan, A.M.1
Fortin, J.2
Dumont, M.3
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31
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Analysis of CHEK2 for ovarian cancer susceptibility
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Baysal BE, DeLoia JA, Goodman MT, et al. Analysis of CHEK2 for ovarian cancer susceptibility [Abstract]. Am J Hum Genet 2003; 73:493.
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(2003)
Am J Hum Genet
, vol.73
, pp. 493
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Baysal, B.E.1
DeLoia, J.A.2
Goodman, M.T.3
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