The Risk of Cancer Associated with Specific Mutations of BRCA1 and BRCA2 among Ashkenazi Jews
Jeffery P. Struewing, M.D., Patricia Hartge, Sc.D., Sholom Wacholder, Ph.D., Sonya M. Baker, B.S., Martha Berlin, B.A., Mary McAdams, M.S., Michelle M. Timmerman, B.S., Lawrence C. Brody, Ph.D., and Margaret A. Tucker, M.D.
From the Division of Cancer Epidemiology and Genetics, National Cancer Institute (J.P.S., P.H., S.W., M.A.T.), and the Laboratory of Gene Transfer, National Human Genome Research Institute (J.P.S., S.M.B., M.M.T., L.C.B.), National Institutes of Health, Bethesda, Md.; Westat, Inc., Rockville, Md. (M.B.); and IMS, Inc., Silver Spring, Md. (M.M.).
Address reprint requests to Dr. Struewing at the Genetic Epidemiology Branch, Bldg. EPN, Rm. 439, 6130 Executive Blvd., MSC 7372, Bethesda, MD 20892-7372.
Antoniou, A. C., Sinilnikova, O. M., McGuffog, L., Healey, S., Nevanlinna, H., Heikkinen, T., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., The Kathleen Cuningham Foundation Consortium for R, , Neuhausen, S. L., Ding, Y. C., Couch, F. J., Wang, X., Fredericksen, Z., Peterlongo, P., Peissel, B., Bonanni, B., Viel, A., Bernard, L., Radice, P., Szabo, C. I., Foretova, L., Zikan, M., Claes, K., Greene, M. H., Mai, P. L., Rennert, G., Lejbkowicz, F., Andrulis, I. L., Ozcelik, H., Glendon, G., OCGN, , Gerdes, A.-M., Thomassen, M., Sunde, L., Caligo, M. A., Laitman, Y., Kontorovich, T., Cohen, S., Kaufman, B., Dagan, E., Baruch, R. G., Friedman, E., Harbst, K., Barbany-Bustinza, G., Rantala, J., Ehrencrona, H., Karlsson, P., Domchek, S. M., Nathanson, K. L., Osorio, A., Blanco, I., Lasa, A., Benitez, J., Hamann, U., Hogervorst, F. B.L., Rookus, M. A., Collee, J. M., Devilee, P., Ligtenberg, M. J., van der Luijt, R. B., Aalfs, C. M., Waisfisz, Q., Wijnen, J., van Roozendaal, C. E.P., HEBON, , Peock, S., Cook, M., Frost, D., Oliver, C., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Davidson, R., Chu, C., Eccles, D., Cole, T., Hodgson, S., EMBRACE, , Godwin, A. K., Stoppa-Lyonnet, D., Buecher, B., Leone, M., Bressac-de Paillerets, B., Remenieras, A., Caron, O., Lenoir, G. M., Sevenet, N., Longy, M., Ferrer, S. F., Prieur, F., GEMO, , Goldgar, D., Miron, A., John, E. M., Buys, S. S., Daly, M. B., Hopper, J. L., Terry, M. B., Yassin, Y., Breast Cancer Family Registry, Christian Singer, , Gschwantler-Kaulich, D., Staudigl, C., Hansen, T. v. O., Barkardottir, R. B., Kirchhoff, T., Pal, P., Kosarin, K., Offit, K., Piedmonte, M., Rodriguez, G. C., Wakeley, K., Boggess, J. F., Basil, J., Schwartz, P. E., Blank, S. V., Toland, A. E., Montagna, M., Casella, C., Imyanitov, E. N., Allavena, A., Schmutzler, R. K., Versmold, B., Engel, C., Meindl, A., Ditsch, N., Arnold, N., Niederacher, D., Deissler, H., Fiebig, B., Suttner, C., Schonbuchner, I., Gadzicki, D., Caldes, T., de la Hoya, M., Pooley, K. A., Easton, D. F., Chenevix-Trench, G., on behalf of CIMBA.,
(2009). Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. Hum Mol Genet
18: 4442-4456
[Abstract][Full Text]
Rivera, P., Melin, M., Biagi, T., Fall, T., Haggstrom, J., Lindblad-Toh, K., von Euler, H.
(2009). Mammary Tumor Development in Dogs Is Associated with BRCA1 and BRCA2. Cancer Res.
69: 8770-8774
[Abstract][Full Text]
Barker, S. D., Bale, S., Booker, J., Buller, A., Das, S., Friedman, K., Godwin, A. K., Grody, W. W., Highsmith, E., Kant, J. A., Lyon, E., Mao, R., Monaghan, K. G., Payne, D. A., Pratt, V. M., Schrijver, I., Shrimpton, A. E., Spector, E., Telatar, M., Toji, L., Weck, K., Zehnbauer, B., Kalman, L. V.
(2009). Development and Characterization of Reference Materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 Genetic Testing. J. Mol. Diagn.
11: 553-561
[Abstract][Full Text]
Rabeharisoa, V., Bourret, P.
(2009). Staging and Weighting Evidence in Biomedicine: Comparing Clinical Practices in Cancer Genetics and Psychiatric Genetics. Social Studies of Science
39: 691-715
[Abstract]
Weng, J.-R., Tsai, C.-H., Omar, H. A., Sargeant, A. M., Wang, D., Kulp, S. K., Shapiro, C. L., Chen, C.-S.
(2009). OSU-A9, a potent indole-3-carbinol derivative, suppresses breast tumor growth by targeting the Akt-NF-{kappa}B pathway and stress response signaling. Carcinogenesis
30: 1702-1709
[Abstract][Full Text]
van der Groep, P, van Diest, P J, Menko, F H, Bart, J, de Vries, E G E, van der Wall, E
(2009). Molecular profile of ductal carcinoma in situ of the breast in BRCA1 and BRCA2 germline mutation carriers. J. Clin. Pathol.
62: 926-930
[Abstract][Full Text]
Raskin, L., Lejbkowicz, F., Barnett-Griness, O., Dishon, S., Almog, R., Rennert, G.
(2009). BRCA1 Breast Cancer Risk Is Modified by CYP19 Polymorphisms in Ashkenazi Jews. Cancer Epidemiol. Biomarkers Prev.
18: 1617-1623
[Abstract][Full Text]
Zhang, L., Kirchhoff, T., Yee, C. J., Offit, K.
(2009). A Rapid and Reliable Test for BRCA1 and BRCA2 Founder Mutation Analysis in Paraffin Tissue Using Pyrosequencing. J. Mol. Diagn.
11: 176-181
[Abstract][Full Text]
Schayek, H., Haugk, K., Sun, S., True, L. D., Plymate, S. R., Werner, H.
(2009). Tumor Suppressor BRCA1 Is Expressed in Prostate Cancer and Controls Insulin-like Growth Factor I Receptor (IGF-IR) Gene Transcription in an Androgen Receptor-Dependent Manner. Clin. Cancer Res.
15: 1558-1565
[Abstract][Full Text]
Antoniou, A. C., Rookus, M., Andrieu, N., Brohet, R., Chang-Claude, J., Peock, S., Cook, M., Evans, D. G., Eeles, R., EMBRACE, , Nogues, C., Faivre, L., Gesta, P., GENEPSO, , van Leeuwen, F. E., Ausems, M. G.E.M., Osorio, A., GEO-HEBON, , Caldes, T., Simard, J., Lubinski, J., Gerdes, A.-M., Olah, E., Furhauser, C., Olsson, H., Arver, B., Radice, P., Easton, D. F., Goldgar, D. E.
(2009). Reproductive and Hormonal Factors, and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers: Results from the International BRCA1/2 Carrier Cohort Study. Cancer Epidemiol. Biomarkers Prev.
18: 601-610
[Abstract][Full Text]
Berg, W. A.
(2009). Tailored Supplemental Screening for Breast Cancer: What Now and What Next?. Am. J. Roentgenol.
192: 390-399
[Abstract][Full Text]
Agalliu, I., Gern, R., Leanza, S., Burk, R. D.
(2009). Associations of High-Grade Prostate Cancer with BRCA1 and BRCA2 Founder Mutations. Clin. Cancer Res.
15: 1112-1120
[Abstract][Full Text]
Oeffinger, K. C., Ford, J. S., Moskowitz, C. S., Diller, L. R., Hudson, M. M., Chou, J. F., Smith, S. M., Mertens, A. C., Henderson, T. O., Friedman, D. L., Leisenring, W. M., Robison, L. L.
(2009). Breast Cancer Surveillance Practices Among Women Previously Treated With Chest Radiation for a Childhood Cancer. JAMA
301: 404-414
[Abstract][Full Text]
Rebbeck, T. R., Kauff, N. D., Domchek, S. M.
(2009). Meta-analysis of Risk Reduction Estimates Associated With Risk-Reducing Salpingo-oophorectomy in BRCA1 or BRCA2 Mutation Carriers. JNCI J Natl Cancer Inst
101: 80-87
[Abstract][Full Text]
Ferrone, C. R., Levine, D. A., Tang, L. H., Allen, P. J., Jarnagin, W., Brennan, M. F., Offit, K., Robson, M. E.
(2009). BRCA Germline Mutations in Jewish Patients With Pancreatic Adenocarcinoma. JCO
27: 433-438
[Abstract][Full Text]
Dougall, A. L., Smith, A. W., Somers, T. J., Posluszny, D. M., Rubinstein, W. S., Baum, A.
(2009). Coping With Genetic Testing for Breast Cancer Susceptibility. Psychosom. Med.
71: 98-105
[Abstract][Full Text]
Keating, N. L., Stoeckert, K. A., Regan, M. M., DiGianni, L., Garber, J. E.
(2008). Physicians' Experiences With BRCA1/2 Testing in Community Settings. JCO
26: 5789-5796
[Abstract][Full Text]
Levanon, K., Crum, C., Drapkin, R.
(2008). New Insights Into the Pathogenesis of Serous Ovarian Cancer and Its Clinical Impact. JCO
26: 5284-5293
[Abstract][Full Text]
Suijkerbuijk, K. P. M., Fackler, M. J., Sukumar, S., van Gils, C. H., van Laar, T., van der Wall, E., Vooijs, M., van Diest, P. J.
(2008). Methylation is less abundant in BRCA1-associated compared with sporadic breast cancer. Ann Oncol
19: 1870-1874
[Abstract][Full Text]
Allain, D. C.
(2008). Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes: A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology. J. Mol. Diagn.
10: 383-395
[Abstract][Full Text]
Palma, M. D., Domchek, S. M., Stopfer, J., Erlichman, J., Siegfried, J. D., Tigges-Cardwell, J., Mason, B. A., Rebbeck, T. R., Nathanson, K. L.
(2008). The Relative Contribution of Point Mutations and Genomic Rearrangements in BRCA1 and BRCA2 in High-Risk Breast Cancer Families. Cancer Res.
68: 7006-7014
[Abstract][Full Text]
Ostrander, E. A., Udler, M. S.
(2008). The Role of the BRCA2 Gene in Susceptibility to Prostate Cancer Revisited. Cancer Epidemiol. Biomarkers Prev.
17: 1843-1848
[Abstract][Full Text]
De Nicolo, A., Tancredi, M., Lombardi, G., Flemma, C. C., Barbuti, S., Di Cristofano, C., Sobhian, B., Bevilacqua, G., Drapkin, R., Caligo, M. A.
(2008). A Novel Breast Cancer-Associated BRIP1 (FANCJ/BACH1) Germ-line Mutation Impairs Protein Stability and Function. Clin. Cancer Res.
14: 4672-4680
[Abstract][Full Text]
Lynch, H. T., Ferrara, K., Barlogie, B., Coleman, E. A., Lynch, J. F., Weisenburger, D., Sanger, W., Watson, P., Nipper, H., Witt, V., Thome, S.
(2008). Familial Myeloma. NEJM
359: 152-157
[Abstract][Full Text]
Mor, P., Oberle, K.
(2008). Ethical Issues Related To BRCA Gene Testing in Orthodox Jewish Women. Nurs Ethics
15: 512-522
[Abstract]
Byrd, L. M., Shenton, A., Maher, E. R., Woodward, E., Belk, R., Lim, C., Lalloo, F., Howell, A., Jayson, G. C., Evans, G. D.
(2008). Better Life Expectancy in Women with BRCA2 Compared with BRCA1 Mutations Is Attributable to Lower Frequency and Later Onset of Ovarian Cancer. Cancer Epidemiol. Biomarkers Prev.
17: 1535-1542
[Abstract][Full Text]
Wang, Y., Clark, L. N., Louis, E. D., Mejia-Santana, H., Harris, J., Cote, L. J., Waters, C., Andrews, H., Ford, B., Frucht, S., Fahn, S., Ottman, R., Rabinowitz, D., Marder, K.
(2008). Risk of Parkinson Disease in Carriers of Parkin Mutations: Estimation Using the Kin-Cohort Method. Arch Neurol
65: 467-474
[Abstract][Full Text]
Niewoehner, C. B, Schorer, A. E
(2008). Gynaecomastia and breast cancer in men. BMJ
336: 709-713
[Full Text]
Kauff, N. D., Domchek, S. M., Friebel, T. M., Robson, M. E., Lee, J., Garber, J. E., Isaacs, C., Evans, D. G., Lynch, H., Eeles, R. A., Neuhausen, S. L., Daly, M. B., Matloff, E., Blum, J. L., Sabbatini, P., Barakat, R. R., Hudis, C., Norton, L., Offit, K., Rebbeck, T. R.
(2008). Risk-Reducing Salpingo-Oophorectomy for the Prevention of BRCA1- and BRCA2-Associated Breast and Gynecologic Cancer: A Multicenter, Prospective Study. JCO
26: 1331-1337
[Abstract][Full Text]
Chan-Smutko, G., Patel, D., Shannon, K. M., Ryan, P. D.
(2008). Professional Challenges in Cancer Genetic Testing: Who Is the Patient?. The Oncologist
13: 232-238
[Abstract][Full Text]
Begg, C. B., Haile, R. W., Borg, A., Malone, K. E., Concannon, P., Thomas, D. C., Langholz, B., Bernstein, L., Olsen, J. H., Lynch, C. F., Anton-Culver, H., Capanu, M., Liang, X., Hummer, A. J., Sima, C., Bernstein, J. L.
(2008). Variation of Breast Cancer Risk Among BRCA1/2 Carriers. JAMA
299: 194-201
[Abstract][Full Text]
Chetrit, A., Hirsh-Yechezkel, G., Ben-David, Y., Lubin, F., Friedman, E., Sadetzki, S.
(2008). Effect of BRCA1/2 Mutations on Long-Term Survival of Patients With Invasive Ovarian Cancer: The National Israeli Study of Ovarian Cancer. JCO
26: 20-25
[Abstract][Full Text]
Jordan, V. C.
(2007). Estrogen Receptors in BRCA1-Mutant Breast Cancer: Now You See Them, Now You Don't. JNCI J Natl Cancer Inst
99: 1655-1657
[Full Text]
Parmigiani, G., Chen, S., Iversen, E. S. Jr, Friebel, T. M., Finkelstein, D. M., Anton-Culver, H., Ziogas, A., Weber, B. L., Eisen, A., Malone, K. E., Daling, J. R., Hsu, L., Ostrander, E. A., Peterson, L. E., Schildkraut, J. M., Isaacs, C., Corio, C., Leondaridis, L., Tomlinson, G., Amos, C. I., Strong, L. C., Berry, D. A., Weitzel, J. N., Sand, S., Dutson, D., Kerber, R., Peshkin, B. N., Euhus, D. M.
(2007). Validity of Models for Predicting BRCA1 and BRCA2 Mutations. ANN INTERN MED
147: 441-450
[Abstract][Full Text]
Underkuffler, L. S.
(2007). Human Genetics Studies: The Case for Group Rights. J Law Med Ethics
35: 383-395
Callahan, M. J., Crum, C. P., Medeiros, F., Kindelberger, D. W., Elvin, J. A., Garber, J. E., Feltmate, C. M., Berkowitz, R. S., Muto, M. G.
(2007). Primary Fallopian Tube Malignancies in BRCA-Positive Women Undergoing Surgery for Ovarian Cancer Risk Reduction. JCO
25: 3985-3990
[Abstract][Full Text]
Bradbury, A. R., Dignam, J. J., Ibe, C. N., Auh, S. L., Hlubocky, F. J., Cummings, S. A., White, M., Olopade, O. I., Daugherty, C. K.
(2007). How Often Do BRCA Mutation Carriers Tell Their Young Children of the Family's Risk for Cancer? A Study of Parental Disclosure of BRCA Mutations to Minors and Young Adults. JCO
25: 3705-3711
[Abstract][Full Text]
Smith, K. L., Adank, M., Kauff, N., Lafaro, K., Boyd, J., Lee, J. B., Hudis, C., Offit, K., Robson, M.
(2007). BRCA Mutations in Women with Ductal Carcinoma In situ. Clin. Cancer Res.
13: 4306-4310
[Abstract][Full Text]
Rennert, G., Bisland-Naggan, S., Barnett-Griness, O., Bar-Joseph, N., Zhang, S., Rennert, H. S., Narod, S. A.
(2007). Clinical Outcomes of Breast Cancer in Carriers of BRCA1 and BRCA2 Mutations. NEJM
357: 115-123
[Abstract][Full Text]
Kauff, N. D., Barakat, R. R.
(2007). Risk-Reducing Salpingo-Oophorectomy in Patients With Germline Mutations in BRCA1 or BRCA2. JCO
25: 2921-2927
[Abstract][Full Text]
Douglas, J. A., Levin, A. M., Zuhlke, K. A., Ray, A. M., Johnson, G. R., Lange, E. M., Wood, D. P., Cooney, K. A.
(2007). Common Variation in the BRCA1 Gene and Prostate Cancer Risk. Cancer Epidemiol. Biomarkers Prev.
16: 1510-1516
[Abstract][Full Text]
Kadouri, L., Hubert, A., Rotenberg, Y., Hamburger, T., Sagi, M., Nechushtan, C., Abeliovich, D., Peretz, T.
(2007). Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. J. Med. Genet.
44: 467-471
[Abstract][Full Text]
Weitzel, J. N., Lagos, V. I., Cullinane, C. A., Gambol, P. J., Culver, J. O., Blazer, K. R., Palomares, M. R., Lowstuter, K. J., MacDonald, D. J.
(2007). Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer. JAMA
297: 2587-2595
[Abstract][Full Text]
Tryggvadottir, L., Vidarsdottir, L., Thorgeirsson, T., Jonasson, J. G., Olafsdottir, E. J., Olafsdottir, G. H., Rafnar, T., Thorlacius, S., Jonsson, E., Eyfjord, J. E., Tulinius, H.
(2007). Prostate Cancer Progression and Survival in BRCA2 Mutation Carriers. JNCI J Natl Cancer Inst
99: 929-935
[Abstract][Full Text]
Wang, Y., Clark, L. N., Marder, K., Rabinowitz, D.
(2007). Nonparametric estimation of age-at-onset distributions from censored kin-cohort data. Biometrika
94: 403-403
[Abstract][Full Text]
Aletti, G. D., Gallenberg, M. M., Cliby, W. A., Jatoi, A., Hartmann, L. C.
(2007). Current Management Strategies for Ovarian Cancer. Mayo Clin Proc.
82: 751-770
[Abstract][Full Text]
Machado, P. M., Brandao, R. D., Cavaco, B. M., Eugenio, J., Bento, S., Nave, M., Rodrigues, P., Fernandes, A., Vaz, F.
(2007). Screening for a BRCA2 Rearrangement in High-Risk Breast/Ovarian Cancer Families: Evidence for a Founder Effect and Analysis of the Associated Phenotypes. JCO
25: 2027-2034
[Abstract][Full Text]
Greer, J. B, Whitcomb, D. C
(2007). Role of BRCA1 and BRCA2 mutations in pancreatic cancer. Gut
56: 601-605
[Abstract][Full Text]
Chen, S., Parmigiani, G.
(2007). Meta-Analysis of BRCA1 and BRCA2 Penetrance. JCO
25: 1329-1333
[Abstract][Full Text]
Saslow, D., Boetes, C., Burke, W., Harms, S., Leach, M. O., Lehman, C. D., Morris, E., Pisano, E., Schnall, M., Sener, S., Smith, R. A., Warner, E., Yaffe, M., Andrews, K. S., Russell, C. A., for the American Cancer Society Breast Cancer Advi,
(2007). American Cancer Society Guidelines for Breast Screening with MRI as an Adjunct to Mammography. CA Cancer J Clin
57: 75-89
[Abstract][Full Text]
Jakubowska, A., Gronwald, J., Menkiszak, J., Gorski, B., Huzarski, T., Byrski, T., Edler, L., Lubinski, J., Scott, R. J., Hamann, U.
(2007). The RAD51 135 G>C Polymorphism Modifies Breast Cancer and Ovarian Cancer Risk in Polish BRCA1 Mutation Carriers. Cancer Epidemiol. Biomarkers Prev.
16: 270-275
[Abstract][Full Text]
Smith, A, Moran, A, Boyd, M C, Bulman, M, Shenton, A, Smith, L, Iddenden, R, Woodward, E R, Lalloo, F, Maher, E R, Evans, D G R
(2007). Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J. Med. Genet.
44: 10-15
[Abstract][Full Text]
Offit, K.
(2006). BRCA Mutation Frequency and Penetrance: New Data, Old Debate. JNCI J Natl Cancer Inst
98: 1675-1677
[Full Text]
Risch, H. A., McLaughlin, J. R., Cole, D. E. C., Rosen, B., Bradley, L., Fan, I., Tang, J., Li, S., Zhang, S., Shaw, P. A., Narod, S. A.
(2006). Population BRCA1 and BRCA2 Mutation Frequencies and Cancer Penetrances: A Kin-Cohort Study in Ontario, Canada. JNCI J Natl Cancer Inst
98: 1694-1706
[Abstract][Full Text]
Clark, L. N., Wang, Y., Karlins, E., Saito, L., Mejia-Santana, H., Harris, J., Louis, E. D., Cote, L. J., Andrews, H., Fahn, S., Waters, C., Ford, B., Frucht, S., Ottman, R., Marder, K.
(2006). Frequency of LRRK2 mutations in early- and late-onset Parkinson disease. Neurology
67: 1786-1791
[Abstract][Full Text]
Brandt-Rauf, S. I., Raveis, V. H., Drummond, N. F., Conte, J. A., Rothman, S. M.
(2006). Ashkenazi Jews and Breast Cancer: The Consequences of Linking Ethnic Identity to Genetic Disease. AJPH
96: 1979-1988
[Abstract][Full Text]
Guillem, J. G., Wood, W. C., Moley, J. F., Berchuck, A., Karlan, B. Y., Mutch, D. G., Gagel, R. F., Weitzel, J., Morrow, M., Weber, B. L., Giardiello, F., Rodriguez-Bigas, M. A., Church, J., Gruber, S., Offit, K.
(2006). ASCO/SSO Review of Current Role of Risk-Reducing Surgery in Common Hereditary Cancer Syndromes. JCO
24: 4642-4660
[Abstract][Full Text]
Malone, K. E., Daling, J. R., Doody, D. R., Hsu, L., Bernstein, L., Coates, R. J., Marchbanks, P. A., Simon, M. S., McDonald, J. A., Norman, S. A., Strom, B. L., Burkman, R. T., Ursin, G., Deapen, D., Weiss, L. K., Folger, S., Madeoy, J. J., Friedrichsen, D. M., Suter, N. M., Humphrey, M. C., Spirtas, R., Ostrander, E. A.
(2006). Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years. Cancer Res.
66: 8297-8308
[Abstract][Full Text]
Finch, A., Beiner, M., Lubinski, J., Lynch, H. T., Moller, P., Rosen, B., Murphy, J., Ghadirian, P., Friedman, E., Foulkes, W. D., Kim-Sing, C., Wagner, T., Tung, N., Couch, F., Stoppa-Lyonnet, D., Ainsworth, P., Daly, M., Pasini, B., Gershoni-Baruch, R., Eng, C., Olopade, O. I., McLennan, J., Karlan, B., Weitzel, J., Sun, P., Narod, S. A., for the Hereditary Ovarian Cancer Clinical Study G,
(2006). Salpingo-oophorectomy and the Risk of Ovarian, Fallopian Tube, and Peritoneal Cancers in Women With a BRCA1 or BRCA2 Mutation. JAMA
296: 185-192
[Abstract][Full Text]
Chen, S., Iversen, E. S. Jr, Parmigiani, G.
(2006). In Reply. JCO
24: 3313-3314
[Full Text]
Cohen, P. E., Pollack, S. E., Pollard, J. W.
(2006). Genetic Analysis of Chromosome Pairing, Recombination, and Cell Cycle Control during First Meiotic Prophase in Mammals. Endocr. Rev.
27: 398-426
[Abstract][Full Text]
Pierce, L. J., Levin, A. M., Rebbeck, T. R., Ben-David, M. A., Friedman, E., Solin, L. J., Harris, E. E., Gaffney, D. K., Haffty, B. G., Dawson, L. A., Narod, S. A., Olivotto, I. A., Eisen, A., Whelan, T. J., Olopade, O. I., Isaacs, C., Merajver, S. D., Wong, J. S., Garber, J. E., Weber, B. L.
(2006). Ten-Year Multi-Institutional Results of Breast-Conserving Surgery and Radiotherapy in BRCA1/2-Associated Stage I/II Breast Cancer. JCO
24: 2437-2443
[Abstract][Full Text]
Yarden, R. I., Papa, M. Z.
(2006). BRCA1 at the crossroad of multiple cellular pathways: approaches for therapeutic interventions.. Molecular Cancer Therapeutics
5: 1396-1404
[Abstract][Full Text]
Plevritis, S. K., Kurian, A. W., Sigal, B. M., Daniel, B. L., Ikeda, D. M., Stockdale, F. E., Garber, A. M.
(2006). Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging.. JAMA
295: 2374-2384
[Abstract][Full Text]
Kang, H. J., Kim, H. J., Rih, J.-K., Mattson, T. L., Kim, K. W., Cho, C.-H., Isaacs, J. S., Bae, I.
(2006). BRCA1 Plays a Role in the Hypoxic Response by Regulating HIF-1{alpha} Stability and by Modulating Vascular Endothelial Growth Factor Expression. J. Biol. Chem.
281: 13047-13056
[Abstract][Full Text]
Hinney, A., Bettecken, T., Tarnow, P., Brumm, H., Reichwald, K., Lichtner, P., Scherag, A., Nguyen, T. T., Schlumberger, P., Rief, W., Vollmert, C., Illig, T., Wichmann, H-E., Schafer, H., Platzer, M., Biebermann, H., Meitinger, T., Hebebrand, J.
(2006). Prevalence, Spectrum, and Functional Characterization of Melanocortin-4 Receptor Gene Mutations in a Representative Population-Based Sample and Obese Adults from Germany. J. Clin. Endocrinol. Metab.
91: 1761-1769
[Abstract][Full Text]
Loud, J. T., Weissman, N. E., Peters, J. A., Giusti, R. M., Wilfond, B. S., Burke, W., Greene, M. H.
(2006). Deliberate Deceit of Family Members: A Challenge to Providers of Clinical Genetics Services. JCO
24: 1643-1646
[Full Text]
Deng, C.-X.
(2006). BRCA1: cell cycle checkpoint, genetic instability, DNA damage response and cancer evolution. Nucleic Acids Res
34: 1416-1426
[Abstract][Full Text]
Ryan, P. D., Harisinghani, M., Lerwill, M. F., Kaufman, D. S.
(2006). Case records of the Massachusetts General Hospital. Case 6-2006. A 71-year-old woman with urinary incontinence and a mass in the bladder.. NEJM
354: 850-856
[Full Text]
Chen, S., Iversen, E. S., Friebel, T., Finkelstein, D., Weber, B. L., Eisen, A., Peterson, L. E., Schildkraut, J. M., Isaacs, C., Peshkin, B. N., Corio, C., Leondaridis, L., Tomlinson, G., Dutson, D., Kerber, R., Amos, C. I., Strong, L. C., Berry, D. A., Euhus, D. M., Parmigiani, G.
(2006). Characterization of BRCA1 and BRCA2 Mutations in a Large United States Sample. JCO
24: 863-871
[Abstract][Full Text]
Tryggvadottir, L., Sigvaldason, H., Olafsdottir, G. H., Jonasson, J. G., Jonsson, T., Tulinius, H., Eyfjord, J. E.
(2006). Population-Based Study of Changing Breast Cancer Risk in Icelandic BRCA2 Mutation Carriers, 1920-2000. JNCI J Natl Cancer Inst
98: 116-122
[Abstract][Full Text]
Ma, Y., Katiyar, P., Jones, L. P., Fan, S., Zhang, Y., Furth, P. A., Rosen, E. M.
(2006). The Breast Cancer Susceptibility Gene BRCA1 Regulates Progesterone Receptor Signaling in Mammary Epithelial Cells. Mol. Endocrinol.
20: 14-34
[Abstract][Full Text]
Kramer, J. L., Velazquez, I. A., Chen, B. E., Rosenberg, P. S., Struewing, J. P., Greene, M. H.
(2005). Prophylactic Oophorectomy Reduces Breast Cancer Penetrance During Prospective, Long-Term Follow-Up of BRCA1 Mutation Carriers. JCO
23: 8629-8635
[Abstract][Full Text]
Gogas, H., Markopoulos, C., Blamey, R.
(2005). Should women be advised to take prophylactic endocrine treatment outside of a clinical trial setting?. Ann Oncol
16: 1861-1866
[Abstract][Full Text]
Rebbeck, T. R., Friebel, T., Wagner, T., Lynch, H. T., Garber, J. E., Daly, M. B., Isaacs, C., Olopade, O. I., Neuhausen, S. L., van 't Veer, L., Eeles, R., Evans, D. G., Tomlinson, G., Matloff, E., Narod, S. A., Eisen, A., Domchek, S., Armstrong, K., Weber, B. L.
(2005). Effect of Short-Term Hormone Replacement Therapy on Breast Cancer Risk Reduction After Bilateral Prophylactic Oophorectomy in BRCA1 and BRCA2 Mutation Carriers: The PROSE Study Group. JCO
23: 7804-7810
[Abstract][Full Text]
Begg, C. B., Orlow, I., Hummer, A. J., Armstrong, B. K., Kricker, A., Marrett, L. D., Millikan, R. C., Gruber, S. B., Anton-Culver, H., Zanetti, R., Gallagher, R. P., Dwyer, T., Rebbeck, T. R., Mitra, N., Busam, K., From, L., Berwick, M., for the Genes Environment and Melanoma (GEM) Study,
(2005). Lifetime Risk of Melanoma in CDKN2A Mutation Carriers in a Population-Based Sample. JNCI J Natl Cancer Inst
97: 1507-1515
[Abstract][Full Text]
Miller, S. M., Roussi, P., Daly, M. B., Buzaglo, J. S., Sherman, K., Godwin, A. K., Balshem, A., Atchison, M. E.
(2005). Enhanced Counseling for Women Undergoing BRCA1/2 Testing: Impact on Subsequent Decision Making About Risk Reduction Behaviors. Health Educ Behav
32: 654-667
[Abstract]
Zhang, Y., Fan, S., Meng, Q., Ma, Y., Katiyar, P., Schlegel, R., Rosen, E. M.
(2005). BRCA1 Interaction with Human Papillomavirus Oncoproteins. J. Biol. Chem.
280: 33165-33177
[Abstract][Full Text]
U.S. Preventive Services Task Force*,
(2005). Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement. ANN INTERN MED
143: 355-361
[Abstract][Full Text]
Nelson, H. D., Huffman, L. H., Fu, R., Harris, E. L.
(2005). Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force. ANN INTERN MED
143: 362-379
[Abstract][Full Text]
Rosen, E M, Fan, S, Isaacs, C
(2005). BRCA1 in hormonal carcinogenesis: basic and clinical research. Endocr Relat Cancer
12: 533-548
[Abstract][Full Text]
Hamann, H. A., Somers, T. J., Smith, A. W., Inslicht, S. S., Baum, A.
(2005). Posttraumatic Stress Associated With Cancer History and BRCA1/2 Genetic Testing. Psychosom. Med.
67: 766-772
[Abstract][Full Text]
van Asperen, C J, Brohet, R M, Meijers-Heijboer, E J, Hoogerbrugge, N, Verhoef, S, Vasen, H F A, Ausems, M G E M, Menko, F H, Gomez Garcia, E B, Klijn, J G M, Hogervorst, F B L, van Houwelingen, J C, van't Veer, L J, Rookus, M A, van Leeuwen, F E, on behalf of the Netherlands Collaborative Group o,
(2005). Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J. Med. Genet.
42: 711-719
[Abstract][Full Text]
Freedman, M. L., Penney, K. L., Stram, D. O., Riley, S., McKean-Cowdin, R., Le Marchand, L., Altshuler, D., Haiman, C. A.
(2005). A Haplotype-Based Case-Control Study of BRCA1 and Sporadic Breast Cancer Risk. Cancer Res.
65: 7516-7522
[Abstract][Full Text]
Wang, C., Fan, S., Li, Z., Fu, M., Rao, M., Ma, Y., Lisanti, M. P., Albanese, C., Katzenellenbogen, B. S., Kushner, P. J., Weber, B., Rosen, E. M., Pestell, R. G.
(2005). Cyclin D1 Antagonizes BRCA1 Repression of Estrogen Receptor {alpha} Activity. Cancer Res.
65: 6557-6567
[Abstract][Full Text]
Weitzel, J. N., Lagos, V., Blazer, K. R., Nelson, R., Ricker, C., Herzog, J., McGuire, C., Neuhausen, S.
(2005). Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families. Cancer Epidemiol. Biomarkers Prev.
14: 1666-1671
[Abstract][Full Text]
Antoniou, A C, Pharoah, P D P, Narod, S, Risch, H A, Eyfjord, J E, Hopper, J L, Olsson, H, Johannsson, O, Borg, A, Pasini, B, Radice, P, Manoukian, S, Eccles, D M, Tang, N, Olah, E, Anton-Culver, H, Warner, E, Lubinski, J, Gronwald, J, Gorski, B, Tulinius, H, Thorlacius, S, Eerola, H, Nevanlinna, H, Syrjakoski, K, Kallioniemi, O-P, Thompson, D, Evans, C, Peto, J, Lalloo, F, Evans, D G, Easton, D F
(2005). Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. J. Med. Genet.
42: 602-603
[Abstract][Full Text]
Cook, J. D., Davis, B. J., Cai, S.-L., Barrett, J. C., Conti, C. J., Walker, C. L.
(2005). Interaction between genetic susceptibility and early-life environmental exposure determines tumor-suppressor-gene penetrance. Proc. Natl. Acad. Sci. USA
102: 8644-8649
[Abstract][Full Text]
Weitzel, J. N., Robson, M., Pasini, B., Manoukian, S., Stoppa-Lyonnet, D., Lynch, H. T., McLennan, J., Foulkes, W. D., Wagner, T., Tung, N., Ghadirian, P., Olopade, O., Isaacs, C., Kim-Sing, C., Moller, P., Neuhausen, S. L., Metcalfe, K., Sun, P., Narod, S. A.
(2005). A Comparison of Bilateral Breast Cancers in BRCA Carriers. Cancer Epidemiol. Biomarkers Prev.
14: 1534-1538
[Abstract][Full Text]
Eberl, M. M., Sunga, A. Y., Farrell, C. D., Mahoney, M. C.
(2005). Patients with a Family History of Cancer: Identification and Management. J Am Board Fam Med
18: 211-217
[Abstract][Full Text]
Simeone, A.-M., Deng, C.-X., Kelloff, G. J., Steele, V. E., Johnson, M. M., Tari, A. M.
(2005). N-(4-Hydroxyphenyl)retinamide is more potent than other phenylretinamides in inhibiting the growth of BRCA1-mutated breast cancer cells. Carcinogenesis
26: 1000-1007
[Abstract][Full Text]
Schwartz, M. D., Lerman, C., Brogan, B., Peshkin, B. N., Isaacs, C., DeMarco, T., Hughes Halbert, C., Pennanen, M., Finch, C.
(2005). Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients. Cancer Epidemiol. Biomarkers Prev.
14: 1003-1007
[Abstract][Full Text]
Patterson, A. R., Robinson, L. D., Naftalis, E. Z., Haley, B. B., Tomlinson, G. E.
(2005). Custodianship of Genetic Information: Clinical Challenges and Professional Responsibility. JCO
23: 2100-2104
[Full Text]
Gurmankin, A. D., Domchek, S., Stopfer, J., Fels, C., Armstrong, K.
(2005). Patients' Resistance to Risk Information in Genetic Counseling for BRCA1/2. Arch Intern Med
165: 523-529
[Abstract][Full Text]