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  • 1.
    Edwinsdotter Ardnor, Christina
    et al.
    Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
    Rosén, Anna
    Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
    Ljuslinder, Ingrid
    Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
    Melin, Beatrice S.
    Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
    The BRCA1 exon 13 duplication: clinical characteristics of 22 families in Northern Sweden2019Inngår i: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 18, nr 1, s. 37-42Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a report of 22 families with the same mutation, BRCA1 duplication exon 13, a mutation that is found world-wide, with the objective to describe the cancer history found in these families. We studied 69 confirmed carriers, 53 women and 16 men, and additionally 29 women who were clinically expected carriers. Among the confirmed carriers, 27 women (51%) were diagnosed with breast cancer, 10 (19%) with ovarian cancer, 5 (9%) with breast and ovarian cancer and 17 (32%) without cancer. Nine women (17%) with breast cancer were 35 years or younger at diagnose. Also, two cases of early onset colon cancer were found, and 37,5% of the male carriers were diagnosed with prostate cancer. These data may have implications for risk assessment and cancer prevention decision making for carriers of the BRCA1 duplication exon 13 mutation.

  • 2. Vigorito, Elena
    et al.
    Kuchenbaecker, Karoline B.
    Beesley, Jonathan
    Adlard, Julian
    Agnarsson, Bjarni A.
    Andrulis, Irene L.
    Arun, Banu K.
    Barjhoux, Laure
    Belotti, Muriel
    Benitez, Javier
    Berger, Andreas
    Bojesen, Anders
    Bonanni, Bernardo
    Brewer, Carole
    Caldes, Trinidad
    Caligo, Maria A.
    Campbell, Ian
    Chan, Salina B.
    Claes, Kathleen B. M.
    Cohn, David E.
    Cook, Jackie
    Daly, Mary B.
    Damiola, Francesca
    Davidson, Rosemarie
    de Pauw, Antoine
    Delnatte, Capucine
    Diez, Orland
    Domchek, Susan M.
    Dumont, Martine
    Durda, Katarzyna
    Dworniczak, Bernd
    Easton, Douglas F.
    Eccles, Diana
    Edwinsdotter Ardnor, Christina
    Umeå universitet, Medicinska fakulteten, Institutionen för strålningsvetenskaper, Onkologi.
    Eeles, Ros
    Ejlertsen, Bent
    Ellis, Steve
    Evans, D. Gareth
    Feliubadalo, Lidia
    Fostira, Florentia
    Foulkes, William D.
    Friedman, Eitan
    Frost, Debra
    Gaddam, Pragna
    Ganz, Patricia A.
    Garber, Judy
    Garcia-Barberan, Vanesa
    Gauthier-Villars, Marion
    Gehrig, Andrea
    Gerdes, Anne-Marie
    Giraud, Sophie
    Godwin, Andrew K.
    Goldgar, David E.
    Hake, Christopher R.
    Hansen, Thomas V. O.
    Healey, Sue
    Hodgson, Shirley
    Hogervorst, Frans B. L.
    Houdayer, Claude
    Hulick, Peter J.
    Imyanitov, Evgeny N.
    Isaacs, Claudine
    Izatt, Louise
    Izquierdo, Angel
    Jacobs, Lauren
    Jakubowska, Anna
    Janavicius, Ramunas
    Jaworska-Bieniek, Katarzyna
    Jensen, Uffe Birk
    John, Esther M.
    Vijai, Joseph
    Karlan, Beth Y.
    Kast, Karin
    Khan, Sofia
    Kwong, Ava
    Laitman, Yael
    Lester, Jenny
    Lesueur, Fabienne
    Liljegren, Annelie
    Lubinski, Jan
    Mai, Phuong L.
    Manoukian, Siranoush
    Mazoyer, Sylvie
    Meindl, Alfons
    Mensenkamp, Arjen R.
    Montagna, Marco
    Nathanson, Katherine L.
    Neuhausen, Susan L.
    Nevanlinna, Heli
    Niederacher, Dieter
    Olah, Edith
    Olopade, Olufunmilayo I.
    Ong, Kai-ren
    Osorio, Ana
    Park, Sue Kyung
    Paulsson-Karlsson, Ylva
    Pedersen, Inge Sokilde
    Peissel, Bernard
    Peterlongo, Paolo
    Pfeiler, Georg
    Phelan, Catherine M.
    Piedmonte, Marion
    Poppe, Bruce
    Angel Pujana, Miquel
    Radice, Paolo
    Rennert, Gad
    Rodriguez, Gustavo C.
    Rookus, Matti A.
    Ross, Eric A.
    Schmutzler, Rita Katharina
    Simard, Jacques
    Singer, Christian F.
    Slavin, Thomas P.
    Soucy, Penny
    Southey, Melissa
    Steinemann, Doris
    Stoppa-Lyonnet, Dominique
    Sukiennicki, Grzegorz
    Sutter, Christian
    Szabo, Csilla I.
    Tea, Muy-Kheng
    Teixeira, Manuel R.
    Teo, Soo-Hwang
    Terry, Mary Beth
    Thomassen, Mads
    Tibiletti, Maria Grazia
    Tihomirova, Laima
    Tognazzo, Silvia
    van Rensburg, Elizabeth J.
    Varesco, Liliana
    Varon-Mateeva, Raymonda
    Vratimos, Athanassios
    Weitzel, Jeffrey N.
    McGuffog, Lesley
    Kirk, Judy
    Toland, Amanda Ewart
    Hamann, Ute
    Lindor, Noralane
    Ramus, Susan J.
    Greene, Mark H.
    Couch, Fergus J.
    Offit, Kenneth
    Pharoah, Paul D. P.
    Chenevix-Trench, Georgia
    Antoniou, Antonis C.
    Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers2016Inngår i: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 11, nr 7, artikkel-id e0158801Artikkel i tidsskrift (Fagfellevurdert)
    Abstract [en]

    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 mutation carriers. We conducted fine-scale mapping at 9p22.2 to identify potential causal variants in BRCA1 and BRCA2 mutation carriers. Genotype data were available for 15,252 (2,462 ovarian cancer cases) BRCA1 and 8,211 (631 ovarian cancer cases) BRCA2 mutation carriers. Following genotype imputation, ovarian cancer associations were assessed for 4,873 and 5,020 SNPs in BRCA1 and BRCA2 mutation carriers respectively, within a retrospective cohort analytical framework. In BRCA1 mutation carriers one set of eight correlated candidate causal variants for ovarian cancer risk modification was identified (top SNP rs10124837, HR: 0.73, 95% CI: 0.68 to 0.79, p-value 2x 10-16). These variants were located up to 20 kb upstream of BNC2. In BRCA2 mutation carriers one region, up to 45 kb upstream of BNC2, and containing 100 correlated SNPs was identified as candidate causal (top SNP rs62543585, HR: 0.69, 95% CI: 0.59 to 0.80, p-value 1.0 x 10-6). The candidate causal in BRCA1 mutation carriers did not include the strongest associated variant at this locus in the general population. In sum, we identified a set of candidate causal variants in a region that encompasses the BNC2 transcription start site. The ovarian cancer association at 9p22.2 may be mediated by different variants in BRCA1 mutation carriers and in the general population. Thus, potentially different mechanisms may underlie ovarian cancer risk for mutation carriers and the general population.

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