Search Results - "GOLDGAR, D"

BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients by Kote-Jarai, Z, Leongamornlert, D, Saunders, E, Tymrakiewicz, M, Castro, E, Mahmud, N, Guy, M, Edwards, S, O'Brien, L, Sawyer, E, Hall, A, Wilkinson, R, Dadaev, T, Goh, C, Easton, D, Goldgar, D, Eeles, R

“…Background: A family history of prostate cancer (PrCa) is a strong risk factor for the disease, indicating that inherited factors are important in this…”
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Germline BRCA1 mutations increase prostate cancer risk by Leongamornlert, D, Mahmud, N, Tymrakiewicz, M, Saunders, E, Dadaev, T, Castro, E, Goh, C, Govindasami, K, Guy, M, O'Brien, L, Sawyer, E, Hall, A, Wilkinson, R, Easton, D, Goldgar, D, Eeles, R, Kote-Jarai, Z

“…Background: Prostate cancer (PrCa) is one of the most common cancers affecting men but its aetiology is poorly understood. Family history of PrCa, particularly…”
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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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BRCA1 and BRCA2 genetic testing—pitfalls and recommendations for managing variants of uncertain clinical significance by Eccles, D.M., Mitchell, G., Monteiro, A.N.A., Schmutzler, R., Couch, F.J., Spurdle, A.B., Gómez-García, E.B., Driessen, R., Lindor, N.M., Blok, M.J., Moller, P., de la Hoya, M., Pal, T., Domchek, S., Nathanson, K., Van Asperen, C., Diez, O., Rheim, K., Stoppa-Lyonnet, D., Parsons, M., Goldgar, D.

“…Increasing use of BRCA1/2 testing for tailoring cancer treatment and extension of testing to tumour tissue for somatic mutation is moving BRCA1/2 mutation…”
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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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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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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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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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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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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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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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Estimating single nucleotide polymorphism associations using pedigree data: applications to breast cancer by Barnes, D R, Barrowdale, D, Beesley, J, Chen, X, James, P A, Hopper, J L, Goldgar, D, Chenevix-Trench, G, Antoniou, A C, Mitchell, G

“…Background: Pedigrees with multiple genotyped family members have been underutilised in breast cancer (BC) genetic-association studies. We developed a…”
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Prospective study of breast cancer risk for mutation negative women from BRCA1 or BRCA2 mutation positive families by Harvey, S. L., Milne, R. L., McLachlan, S. A., Friedlander, M. L., Birch, K. E., Weideman, P., Goldgar, D., Hopper, J. L., Phillips, K. A.

“…Published studies have reached contradictory conclusions regarding breast cancer risk for women from families segregating a BRCA1 or BRCA2 mutation who do not…”
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Family History and Colorectal Cancer: Predictors of Risk by Slattery, M. L., Levin, T. R., Ma, K., Goldgar, D., Holubkov, R., Edwards, S.

“…Introduction: While the association between family history of colorectal cancer in first-degree relatives and risk of developing colon cancer has been well…”
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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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Classification of BRCA1 missense variants of unknown clinical significance by Phelan, C M, Đapić, V, Tice, B, Favis, R, Kwan, E, Barany, F, Manoukian, S, Radice, P, van der Luijt, R B, van Nesselrooij, B P M, Chenevix-Trench, G, Caldes, T, de La Hoya, M, Lindquist, S, Tavtigian, S V, Goldgar, D, Borg, Å, Narod, S A, Monteiro, A N A

“…Background:BRCA1 is a tumour suppressor with pleiotropic actions. Germline mutations in BRCA1 are responsible for a large proportion of breast–ovarian cancer…”
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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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The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1 by Oddoux, Carole, Struewing, Jeffery P, Clayton, C. Mark, Neuhausen, Susan, Brody, Lawrence C, Kaback, Michael, Haas, Bruce, Norton, Larry, Borgen, Patrick, Jhanwar, Suresh, Goldgar, David, Ostrer, Harry, Offit, Kenneth

“…Certain germline mutations in either BRCA1 or BRCA2 confer a lifetime risk of developing breast cancer that may approach 90%. The BRCA1 185delAG mutation was…”
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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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