Design considerations for massively parallel sequencing studies of common familial cancers

Por Feng, BJ, Tavtigian, SV, Southey, MC, Goldgar, DE
Publicado em 2012

Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots

Por Nguyen-Dumont, T, Mahmoodi, M, Hammet, F, Tran, T, Tsimiklis, H, Giles, GG, Hopper, JL, Southey, MC, Park, DJ
Publicado no Anal Biochem (2014)

Early exploration of two candidate breast cancer susceptibility genes identified by whole-exome sequencing

Por Blanc, R, Jammot, A, Nguyen-Dumont, T, Teo, ZL, Odefrey, FA, Hammet, F, Goldgar, DE, Park, DJ, Southey, MC
Publicado em 2012

BRCA1 promoter deletions in young women with breast cancer and a strong family history: a population based study.

Por Smith, LD, Tesoriero, AA, Ramus, SJ, Dite, G, Royce, SG, Giles, GG, McCredie, MRE, Hopper, JL, Southey., MC
Publicado em 2007

Expanded genetic analysis of a PALB2 c.3113G>A mutation carrying multiple-case breast cancer family via exome sequencing

Por Teo, ZL, Park, DJ, Odefrey, F, Hammet, F, Nguyen-Dumont, T, Tsimiklis, H, Pope, BJ, Lonie, A, Winship, I, Giles, GG, Hopper, JL, Southey, MC
Publicado em 2012

Identification of a novel disease-associated variant in the BRCA1 3’UTR that introduces a functional miR-103 target site

Por Brewster BL, Rossiello F, French JD, Edwards SL, Wong EM, Whiley P, Waddell N, Chen X, Bove B, Spurdle AB, Radice P, Godwin AK, Southey MC, Brown MA, Peterlongo P
Publicado em 2012-04-01

Identification of a novel disease-associated variant in the BRCA1 3’UTR that introduces a functional miR-103 target site

Por Brewster, BL, Rossiello, F, French, JD, Edwards, SL, Wong, EM, Whiley, P, Waddell, N, Chen, X, Bove, B, Spurdle, AB, Radice, P, Godwin, AK, Southey, MC, Brown, MA, Peterlongo, P
Publicado em 2012

Identification of new breast cancer predisposition genes via whole exome sequencing

Por Southey, MC, Park, DJ, Lesueur, F, Odefrey, F, Nguyen-Dumont, T, Hammet, F, Neuhausen, SL, John, EM, Andrulis, IL, Chenevix-Trench, G, Baglietto, L, Le Calvez-Kelm, F, Pertesi, M, Lonie, A, Pope, B, Sinilnikova, O, Tsimiklis, H, Giles, GG, Hopper, JL, Tavtigian, SV, Goldgar, DE
Publicado em 2012

Rare Mutations in XRCC2 Increase the Risk of Breast Cancer

Por 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.
Publicado em 2012

Breast-Cancer Risk in Families with Mutations in PALB2

Por Antoniou, A.C., Casadei, S., Heikkinen, T., Barrowdale, D., Pylkäs, K., Roberts, J., Lee, A., Subramanian, D., De Leeneer, K., Fostira, F., Tomiak, E., Neuhausen, S.L., Teo, Z.L., Khan, S., Aittomäki, K., Moilanen, J.S., Turnbull, C., Seal, S., Mannermaa, A., Kallioniemi, A., Lindeman, G.J., Buys, S.S., Andrulis, I.L., Radice, P., Tondini, C., Manoukian, S., Toland, A.E., Miron, P., Weitzel, J.N., Domchek, S.M., Poppe, B., Claes, K.B.M., Yannoukakos, D., Concannon, P., Bernstein, J.L., James, P.A., Easton, D.F., Goldgar, D.E., Hopper, J.L., Rahman, N., Peterlongo, P., Nevanlinna, H., King, M.-C., Couch, F.J., Southey, M.C., Winqvist, R., Foulkes, W.D., Tischkowitz, M.
Publicado em 2014