Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

Autor: Vigorito, E., Kuchenbaecker, K.B., Beesley, J., Adlard, J., Agnarsson, B.A., Andrulis, I.L., Arun, B.K., Barjhoux, L., Belotti, M., Benitez, J., Berger, A., Bojesen, A., Bonanni, B., Brewer, C., Caldes, T., Caligo, M.A., Campbell, I., Chan, S.B., Claes, K.B., Cohn, D.E., Cook, J., Daly, M.B., Damiola, F., Davidson, R., Pauw, A. de, Delnatte, C., Diez, O., Domchek, S.M., Dumont, M., Durda, K., Dworniczak, B., Easton, D.F., Eccles, D., Edwinsdotter Ardnor, C., Eeles, R., Ejlertsen, B., Ellis, S., Evans, D.G., Feliubadalo, L., Fostira, F., Foulkes, W.D., Friedman, E., Frost, D., Gaddam, P., Ganz, P.A., Garber, J., Garcia-Barberan, V., Gauthier-Villars, M., Gehrig, A., Gerdes, A.M., Giraud, S., Godwin, A.K., Goldgar, D.E., Hake, C.R., Hansen, T.V., Healey, S., Hodgson, S., Hogervorst, F.B., Houdayer, C., Hulick, P.J., Imyanitov, E.N., Isaacs, C., Izatt, L., Izquierdo, A., Jacobs, L, Jakubowska, A., Janavicius, R., Jaworska-Bieniek, K., Jensen, U.B., John, E.M., Vijai, J., Karlan, B.Y., Kast, K., Khan, S., Kwong, A., Laitman, Y., Lester, J., Lesueur, F., Liljegren, A., Lubinski, J., Mai, P.L., Manoukian, S., Mazoyer, S., Meindl, A., Mensenkamp, A.R., Montagna, M., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Niederacher, D., Olah, E., Olopade, O.I., Ong, K.R., Osorio, A., Park, S.K., Paulsson-Karlsson, Y., Pedersen, I.S., Peissel, B., Peterlongo, P.

Publikováno v: PloS one, vol 11, iss 7
PLoS One, 11
PLoS One, 11, 7

Contains fulltext : 172560.PDF (Publisher’s version ) (Open Access) Population-based genome wide association studies have identified a locus at 9p22.2 associated with ovarian cancer risk, which also modifies ovarian cancer risk in BRCA1 and BRCA2 m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::c83c9651afe0d17ef058ab62663759f0
https://doi.org/10.1371/journal.pone.0158801

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Autor: Lawrenson, K., Kar, S., McCue, K., Kuchenbaeker, K., Michailidou, K., Tyrer, J., Beesley, J., Ramus, S.J., Li, Q., Delgado, M.K., Lee, J.M., Aittomaki, K., Andrulis, I.L., Anton-Culver, H., Arndt, V., Arun, B.K., Arver, B., Bandera, E.V., Barile, M., Barkardottir, R.B., Barrowdale, D., Beckmann, M.W., Benitez, J., Berchuck, A., Bisogna, M., Bjorge, L., Blomqvist, C., Blot, W., Bogdanova, N., Bojesen, A., Bojesen, S.E., Bolla, M.K., Bonanni, B., Borresen-Dale, A.L., Brauch, H., Brennan, P., Brenner, H., Bruinsma, F., Brunet, J., Buhari, S.A., Burwinkel, B., Butzow, R., Buys, S.S., Cai, Q., Caldes, T., Campbell, I., Canniotto, R., Chang-Claude, J., Chiquette, J., Choi, J.Y., Claes, K.B., Cook, L.S., Cox, A, Cramer, D.W, Cross, S.S., Cybulski, C., Czene, K., Daly, M.B., Damiola, F., Dansonka-Mieszkowska, A., Darabi, H., Dennis, J., Devilee, P., Diez, O., Doherty, J.A., Domchek, S.M., Dorfling, C.M., Dork, T., Dumont, M., Ehrencrona, H., Ejlertsen, B., Ellis, S., Engel, C., Lee, E., Evans, D.G., Fasching, P.A., Feliubadalo, L., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foretova, L., Fostira, F., Foulkes, W.D., Fridley, B.L., Friedman, E., Frost, D., Gambino, G., Ganz, P.A., Garber, J., Garcia-Closas, M., Gentry-Maharaj, A., Ghoussaini, M., Giles, G.G., Glasspool, R., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., Gonzalez-Neira, A., Goode, E.L., Kiemeney, B., Massuger, L.F.A.G., Mensenkamp, A.R.

Publikováno v: Nature Communications, 7, pp. 12675
Nature Communications, 7, 12675

Contains fulltext : 172592.pdf (Publisher’s version ) (Open Access) A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::40e96b8756aa0482cd5b2ea54e53c224
https://doi.org/10.1038/ncomms12675

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Functional characterization of BRCA2 variants to improve cancer risk assessment

Autor: Mesman R.L.S.

Publikováno v: None

Offering genetic testing to identify pathogenic variants in individuals with clinicallypresumed hereditary breast and/or ovarian cancer is currently routine clinicalpractice. In case a pathogenic variant is identified, carriers might benefit from ris

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b155e929d3e27a86c78ea013a5539de8
https://hdl.handle.net/1887/138056