Search Results - "ANDRULIS, I. L"

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer by Park, D.J., Lesueur, F., Nguyen-Dumont, T., Pertesi, M., Odefrey, F., Hammet, F., Neuhausen, S.L., John, E.M., Andrulis, I.L., Terry, M.B., Daly, M., Buys, S., Le Calvez-Kelm, F., Lonie, A., Pope, B.J., Tsimiklis, H., Voegele, C., Hilbers, F.M., Hoogerbrugge, N., Barroso, A., Osorio, A., Giles, G.G., Devilee, P., Benitez, J., Hopper, J.L., Tavtigian, S.V., Goldgar, D.E., Southey, M.C.

“…An exome-sequencing study of families with multiple breast-cancer-affected individuals identified two families with XRCC2 mutations, one with a…”
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Topoisomerase II Alpha and Responsiveness of Breast Cancer to Adjuvant Chemotherapy by O’Malley, F. P., Chia, S., Tu, D., Shepherd, L. E., Levine, M. N., Bramwell, V. H., Andrulis, I. L., Pritchard, K. I.

“…Background Amplification or deletion of the topoisomerase II alpha (TOP2A) gene in breast cancers has been postulated to be more closely associated with…”
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Reproductive risk factors and oestrogen/progesterone receptor-negative breast cancer in the Breast Cancer Family Registry by Work, M E, John, E M, Andrulis, I L, Knight, J A, Liao, Y, Mulligan, A M, Southey, M C, Giles, G G, Dite, G S, Apicella, C, Hibshoosh, H, Hopper, J L, Terry, M B

“…Background: Oestrogen receptor (ER)- and progesterone receptor (PR)-negative (ER−PR−) breast cancer is associated with poorer prognosis compared with other…”
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Topoisomerase II alpha protein and responsiveness of breast cancer to adjuvant chemotherapy with CEF compared to CMF in the NCIC CTG randomized MA.5 adjuvant trial by O’Malley, F. P., Chia, S., Tu, D., Shepherd, L. E., Levine, M. N., Huntsman, D., Bramwell, V. H., Andrulis, I. L., Pritchard, K. I.

“…Overexpression of topoisomerase II protein (topo 2α) is postulated to be more closely associated with responsiveness to anthracycline-containing chemotherapy…”
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Germline mutations in CDH1 are infrequent in women with early-onset or familial lobular breast cancers by Schrader, K A, Masciari, S, Boyd, N, Salamanca, C, Senz, J, Saunders, D N, Yorida, E, Maines-Bandiera, S, Kaurah, P, Tung, N, Robson, M E, Ryan, P D, Olopade, O I, Domchek, S M, Ford, J, Isaacs, C, Brown, P, Balmana, J, Razzak, A R, Miron, P, Coffey, K, Terry, M B, John, E M, Andrulis, I L, Knight, J A, O'Malley, F P, Daly, M, Bender, P, Moore, R, Southey, M C, Hopper, J L, Garber, J E, Huntsman, D G

“…Germline mutations in CDH1 are associated with hereditary diffuse gastric cancer; lobular breast cancer also occurs excessively in families with such…”
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Tumour morphology predicts PALB2 germline mutation status by Teo, Z L, Provenzano, E, Dite, G S, Park, D J, Apicella, C, Sawyer, S D, James, P A, Mitchell, G, Trainer, A H, Lindeman, G J, Shackleton, K, Cicciarelli, L, Buys, S S, Andrulis, I L, Mulligan, A M, Glendon, G, John, E M, Terry, M B, Daly, M, Odefrey, F A, Nguyen-Dumont, T, Giles, G G, Dowty, J G, Winship, I, Goldgar, D E, Hopper, J L, Southey, M C

“…Background: Population-based studies of breast cancer have estimated that at least some PALB2 mutations are associated with high breast cancer risk. For women…”
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Identification and characterization of missense alterations in the BRCA1 associated RING domain (BARD1) gene in breast and ovarian cancer by Sauer, M K, Andrulis, I L

“…Background: BRCA1 associated RING domain protein (BARD1) was originally identified due to its interaction with the RING domain of BRCA1. BARD1 is required for…”
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Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry by Bernstein, J.L., Teraoka, S., Southey, M.C., Jenkins, M.A., Andrulis, I.L., Knight, J.A., John, E.M., Lapinski, R., Wolitzer, A.L., Whittemore, A.S., West, D., Seminara, D., Olson, E.R., Spurdle, A.B., Chenevix-Trench, G., Giles, G.G., Hopper, J.L., Concannon, P.

“…The ATM gene variants segregating in ataxia‐telangiectasia families are associated with increased breast cancer risk, but the contribution of specific variants…”
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Functional characterization of novel presenilin-2 variants identified in human breast cancers by TO, M. D, GOKGOZ, N, DOYLE, T. G, DONOVIEL, D. B, KNIGHT, J. A, HYSLOP, P. S, BERNSTEIN, A, ANDRULIS, I. L

“…We identified in breast cancer cases two germline alterations, R62H and R71W, in presenilin-2 (PS-2), a gene involved in familial Alzheimer's disease (FAD)…”
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Quantitative Analysis of MDR1 (Multidrug Resistance) Gene Expression in Human Tumors by Polymerase Chain Reaction by Noonan, K. E., Beck, C., Holzmayer, T. A., Chin, J. E., Wunder, J. S., Audrulis, I. L., Gazdar, A. F., William, C. L., Griffith, B., Von Hoff, D. D., Roninson, I. B.

“…The resistance of tumor cells to chemotherapeutic drugs is a major obstacle to successful cancer chemotherapy. In human cells, expression of the MDR1 gene,…”
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Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations by Phillips, K A, Nichol, K, Ozcelik, H, Knight, J, Done, S J, Goodwin, P J, Andrulis, I L

“…Breast carcinomas occurring in carriers of BRCA1 gene mutations may have a distinctly different pathway of molecular pathogenesis from those occurring in…”
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Familial Posterior Fossa Brain Tumors of Infancy Secondary to Germline Mutation of the hSNF5 Gene by Taylor, Michael D., Gokgoz, Nalan, Andrulis, Irene L., Mainprize, Todd G., Drake, James M., Rutka, James T.

“…We have identified a family afflicted over multiple generations with posterior fossa tumors of infancy, including central nervous system (CNS) malignant…”
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BRCA1 and BRCA2 mutations in Turkish breast/ovarian families and young breast cancer patients by YAZICI, H, BITISIK, O, TURKMEN, S, ANDRULIS, I. L, DALAY, N, OZCELIK, H, AKISIK, E, CABIOGLU, N, SAIP, P, MUSLUMANOGLU, M, GLENDON, G, BENGISU, E, OZBILEN, S, DINCER, M

“…To date, BRCA1 and BRCA2 mutations in breast and/or ovarian patients have not been characterized in the Turkish population. We investigated the presence of…”
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Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women by Apicella, C, Dowty, JG, Dite, GS, Jenkins, MA, Senie, RT, Daly, MB, Andrulis, IL, John, EM, Buys, SS, Li, FP, Glendon, G, Chung, W, Ozcelik, H, Miron, A, Kotar, K, Southey, MC, Foulkes, WD, Hopper, JL

“…lambda is a model that estimates the probability an Ashkenazi Jewish (AJ) woman carries an ancestral BRCA1 or BRCA2 mutation from her personal and family…”
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EWS-FLI1 and EWS-ERG Gene Fusions Are Associated With Similar Clinical Phenotypes in Ewing's Sarcoma by GINSBERG, J. P, DE ALAVA, E, ANDRULIS, I. L, MALIK, R, SORENSEN, P. H. B, WOMER, R. B, BARR, F. G, LADANYI, M, WEXLER, L. H, KOVAR, H, PAULUSSEN, M, ZOUBEK, A, DOCKHORN-DWORNICZAK, B, JUERGENS, H, WUNDER, J. S

“…There are a variety of solid tumors in which alternative chromosomal translocations generate related fusion products. In alveolar rhabdomyosarcoma and synovial…”
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Co-amplification and overexpression of CDK4, SAS and MDM2 occurs frequently in human parosteal osteosarcomas by WUNDER, J. S, EPPERT, K, BURROW, S. R, GOGKOZ, N, BELL, R. S, ANDRULIS, I. L

“…Amplification of genes in the 12q13-15 region occurs frequently in several malignancies including osteosarcoma. The products of these amplified genes are…”
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p53 Missense Mutations in Microdissected High-Grade Ductal Carcinoma In Situ of the Breast by Done, Susan J., Eskandarian, Sasha, Bull, Shelley, Redston, Mark, Andrulis, Irene L.

“…Background: To understand the role of sporadic mutations in the tumor suppressor gene p53 (also known as TP53) in the pathogenesis of breast cancer, it is…”
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Multigene testing of moderate-risk genes: be mindful of the missense by Young, E L, Feng, B J, Stark, A W, Damiola, F, Durand, G, Forey, N, Francy, T C, Gammon, A, Kohlmann, W K, Kaphingst, K A, McKay-Chopin, S, Nguyen-Dumont, T, Oliver, J, Paquette, A M, Pertesi, M, Robinot, N, Rosenthal, J S, Vallee, M, Voegele, C, Hopper, J L, Southey, M C, Andrulis, I L, John, E M, Hashibe, M, Gertz, J, Le Calvez-Kelm, F, Lesueur, F, Goldgar, D E, Tavtigian, S V

“…Moderate-risk genes have not been extensively studied, and missense substitutions in them are generally returned to patients as variants of uncertain…”
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Breast Carcinomas Arising in Carriers of Mutations in BRCA1 or BRCA2: Are They Prognostically Different? by PHILLIPS, K.-A, ANDRULIS, I. L, GOODWIN, P. J

“…To review the preclinical and clinical studies relevant to the prognosis and prognostic associations of BRCA1- and BRCA2-associated breast carcinomas, with an…”
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MDR1 Gene Expression and Outcome in Osteosarcoma: A Prospective, Multicenter Study by WUNDER, J. S, BULL, S. B, BELL, R. S, ANDRULIS, I. L, ANELIUNAS, V, LEE, P. D, DAVIS, A. M, BEAUCHAMP, C. P, CONRAD, E. U, GRIMER, R. J, HEALEY, J. H, ROCK, M. J

“…Increased expression of the multidrug resistance gene (MDR1) has been implicated in osteosarcoma prognosis. This study represents the first prospective…”
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