Search Results - "Goldgar, D. E"

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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Cannabis, tobacco and domestic fumes intake are associated with nasopharyngeal carcinoma in North Africa by Feng, B-J, Khyatti, M, Ben-Ayoub, W, Dahmoul, S, Ayad, M, Maachi, F, Bedadra, W, Abdoun, M, Mesli, S, Bakkali, H, Jalbout, M, Hamdi-Cherif, M, Boualga, K, Bouaouina, N, Chouchane, L, Benider, A, Ben-Ayed, F, Goldgar, D E, Corbex, M

“…Background: The lifestyle risk factors for nasopharyngeal carcinoma (NPC) in North Africa are not known. Methods: From 2002 to 2005, we interviewed 636…”
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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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Cancer risks in two large breast cancer families linked to BRCA2 on chromosome 13q12-13 by EASTON, D. F, STEELE, L, CANNON-ALBRIGHT, L. A, STRATTON, M. R, GOLDGAR, D. E, FIELDS, P, ORMISTON, W, AVERILL, D, DALY, P. A, MCMANUS, R, NEUHAUSEN, S. L, FORD, D, WOOSTER, R

“…The penetrance of the BRCA2 gene on chromosome 13q12-13 has been estimated in two large, systematically ascertained, linked families, by use of a…”
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Analysis of the p16 gene ( CDKN2 ) as a candidate for the chromosome 9p melanoma susceptibility locus by Kamb, A, Shattuck-Eidens, D, Eeles, R, Liu, Q, Gruis, N. A, Ding, W, Hussey, C, Tran, T, Miki, Y, Weaver-Feldhaus, J, McClure, M, Aitken, J. F, Anderson, D. E, Bergman, W, Frants, R, Goldgar, D. E, Green, A, MacLennan, R, Martin, N. G, Meyer, L. J, Youl, P, Zone, J. J, Skolnick, M. H, Cannon-Albright, L. A

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Assessing biases of information contained in pedigrees for the classification of BRCA-genetic variants: a study arising from the ENIGMA analytical working group by Kerkhofs, C H H, Spurdle, A B, Lindsey, P J, Goldgar, D E, Gómez-García, E B

“…One way of evaluating family history (FH) for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the "BRCA-ness" of a pedigree…”
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Evidence for interaction between the TCO and NMTC1 loci in familial non-medullary thyroid cancer by McKay, J D, Thompson, D, Lesueur, F, Stankov, K, Pastore, A, Watfah, C, Strolz, S, Riccabona, G, Moncayo, R, Romeo, G, Goldgar, D E

“…Background: Familial non-medullary thyroid cancer (fNMTC) is a complex genetic disorder that is more aggressive than its sporadic counterpart. Thus far, three…”
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Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands by Goldgar, D E, Easton, D F, Cannon-Albright, L A, Skolnick, M H

“…Cancer has long been recognized to have a familial component. Elevated risks for cancers at the same site for relatives of cancer probands have been reported…”
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Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families : Results of an international study by NEUHAUSEN, S. L, MAZOYER, S, SOLOMON, E, WEBER, B, COUCH, F, STRUEWING, J, TONIN, P, DUROCHER, F, NAROD, S, SKOLNICK, M. H, LENOIR, G, SEROVA, O, FRIEDMAN, L, PONDER, B, STOPPA-LYONNET, D, EASTON, D, KING, M.-C, GOLDGAR, D. E, STRATTON, M, OFFIT, K, CALIGO, A, TOMLINSON, G, CANNON-ALBRIGHT, L, BISHOP, T, KELSELL, D

“…Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families. To investigate mutation origin and…”
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Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma by Lesueur, F, Corbex, M, McKay, J D, Lima, J, Soares, P, Griseri, P, Burgess, J, Ceccherini, I, Landolfi, S, Papotti, M, Amorim, A, Goldgar, D E, Romeo, G

“…Background: Papillary thyroid carcinoma (PTC), which may be sporadic (95%) or familial (5%), has a prevalence adjusted for age in the general population of…”
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Multipoint analysis of human quantitative genetic variation by GOLDGAR, D. E

“…A unique method of partitioning human quantitative genetic variation into effects due to specific chromosomal regions is presented. This method is based on…”
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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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Genetic heterogeneity in familial nonmedullary thyroid carcinoma : Exclusion of linkage to RET, MNG1 and TCO in 56 families by LESUEUR, F, STARK, M, TOCCO, T, AYADI, H, DELISLE, M. J, GOLDGAR, D. E, SCHLUMBERGER, M, ROMEO, G, CANZIAN, F

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Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus by Phelan, Catherine M, Rebbeck, Timothy R, Weber, Barbara L, Devilee, Peter, Ruttledge, Martin H, Lynch, Henry T, Lenoir, Gilbert M, Stratton, Michael R, Easton, Douglas F, Ponder, Bruce A. J, Cannon-Albright, Lisa, Larsson, Catharina, Goldgar, David E, Narod, Steven A

“…Women who carry a mutation in the BRCA1 gene (on chromosome 17q21), have an 80% risk of breast cancer and a 40% risk of ovarian cancer by the age of 70 (ref…”
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Comparison of BRCA1 Polymorphisms, Rare Sequence Variants and/or Missense Mutations in Unaffected and Breast/Ovarian Cancer Populations by Durocher, Francine, Shattuck-Eidens, Donna, McClure, Melody, Labrie, Fernand, Skolnick, Mark H., Goldgar, David E., Simard, Jacques

“…Inherited mutations in the BRCA1 gene are known to confer a predisposition to breast and ovarian cancer. We have first characterized 19 sequence variants in…”
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Population aspects of cancer genetics by Goldgar, D.E.

“…A number of relatively rare, high-risk genes have been identified which predispose to common cancers such as breast, colon, and melanoma. Although these are…”
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A Model Protocol for Evaluating the Behavioral and Psychosocial Effects of BRCA1 Testing by Botkin, Jeffrey R., Croyle, Robert T., Smith, Ken R., Baty, Bonnie J., Lerman, Caryn, Goldgar, David E., Ward, John M., Flick, Bonnie J., Nash, Jean E.

“…Botkin et al discuss a model protocol for evaluating the behavioral and psychosocial effects of screening women for the BRCA1 mutation that often lead to…”
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Familiality of cancer in Utah by CANNON-ALBRIGHT, L. A, THOMAS, A, GOLDGAR, D. E, GHOLAMI, K, ROWE, K, JACOBSEN, M, MCWHORTER, W. P, SKOLNICK, M. H

“…The Utah Population Database allows examination of the genetic relationships among the 35.7% of all cancer cases in the state that have genealogical records…”
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A large kindred with 17q-linked breast and ovarian cancer: genetic, phenotypic, and genealogical analysis by Goldgar, D E, Fields, P, Lewis, C M, Tran, T D, Cannon-Albright, L A, Ward, J H, Swensen, J, Skolnick, M H

“…Mutation of a specific, but as yet unidentified, gene BRCA1 on chromosome 17q results in increased susceptibility to breast and ovarian cancer. It is important…”
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Interobserver concordance in discriminating clinical atypia of melanocytic nevi, and correlations with histologic atypia by Meyer, Laurence J., Piepkorn, Michael, Goldgar, David E., Lewis, Cathryn M., Cannon-Albright, Lisa A., Zone, John J., Skolnick, Mark H.

“…The clinical features attributed to atypical (formerly “dysplastic”) nevi and to the atypical multiple mole melanoma syndrome have been used in clinical…”
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