Annelie Augustinsson

2024

Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines: a clinical implementation study

Augustinsson, A., Loman, N. & Ehrencrona, H., 2024, I: Breast Cancer Research and Treatment. 205, 3, s. 599-607

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2023

A genome-wide gene-environment interaction study of breast cancer risk for women of European ancestry

Middha, P., Wang, X., Behrens, S., Bolla, M. K., Wang, Q., Dennis, J., Michailidou, K., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Arndt, V., Aronson, K. J., Auer, P. L., Augustinsson, A., Baert, T., Freeman, L. E. B., Becher, H., Beckmann, M. W., Benitez, J. & Bojesen, S. E. & 30 andra, Brauch, H., Brenner, H., Brooks-Wilson, A., Campa, D., Canzian, F., Carracedo, A., Castelao, J. E., Chanock, S. J., Chenevix-Trench, G., Cordina-Duverger, E., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Dossus, L., Dugué, P.-A., Eliassen, A. H., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J. D., Fletcher, O., Flyger, H., Gabrielson, M., Gago-Dominguez, M., Hall, P., Ingvar, C., Isaksson, K., Jernström, H. & CTS Consortium, 2023 aug. 9, I: Breast cancer research : BCR. 25, 1, s. 1-13 93.

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Association of the CHEK2 c.1100delC variant, radiotherapy, and systemic treatment with contralateral breast cancer risk and breast cancer-specific survival

Morra, A., Schreurs, M. A. C., Andrulis, I. L., Anton-Culver, H., Augustinsson, A., Beckmann, M. W., Behrens, S., Bojesen, S. E., Bolla, M. K., Brauch, H., Broeks, A., Buys, S. S., Camp, N. J., Castelao, J. E., Cessna, M. H., Chang-Claude, J., Chung, W. K., Colonna, S. V., Couch, F. J. & Cox, A. & 30 andra, Cross, S. S., Czene, K., Daly, M. B., Dennis, J., Devilee, P., Dörk, T., Dunning, A. M., Dwek, M., Easton, D. F., Eccles, D. M., Eriksson, M., Evans, D. G., Fasching, P. A., Fehm, T. N., Figueroa, J. D., Flyger, H., Gabrielson, M., Gago-Dominguez, M., García-Closas, M., García-Sáenz, J. A., Genkinger, J., Grassmann, F., Gündert, M., Hahnen, E., Haiman, C. A., Hamann, U., Harrington, P. A., Hartikainen, J. M., Jernström, H. & NBCS Collaborators, 2023 aug., I: Cancer Medicine. 12, 15, s. 16142-16162

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Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Kast, K., van de Beek, I., Olah, E., Jakubowska, A., Singer, C. F., Tan, Y., Augustinsson, A., Milne, R. L., Phillips, K.-A., Terry, M. B., Goldgar, D., van Leeuwen, F. E., Mooij, T. M., Antoniou, A. C., Engel, C. & EMBRACE Collaborators, 2023 juni 20, I: Breast cancer research : BCR. 25, 1, 72.

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Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

Lopes Cardozo, J. M. N., Andrulis, I. L., Bojesen, S. E., Dörk, T., Eccles, D. M., Fasching, P. A., Hooning, M. J., Keeman, R., Nevanlinna, H., Rutgers, E. J. T., Easton, D. F., Hall, P., Pharoah, P. D. P., van 't Veer, L. J., Schmidt, M. K., Breast Cancer Association Consortium and MINDACT Collaborators & Augustinsson, A. (medarbetare), 2023 apr. 1, I: Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 41, 10, s. 1849-1863

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Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

Mueller, S. H., Augustinsson, A., Olsson, H., NBCS Collaborators, CTS Consortium, ABCTB Investigators & Kuchenbaecker, K. B., 2023, I: Genome Medicine. 15, 1, 7.

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A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

Zanti, M., Augustinsson, A., Jernström, H., Michailidou, K. & et al., 2023, I: Human Mutation. 2023, 9961341.

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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel

Levi, H., Michailidou, K., Ahearn, T., Andrulis, I. L., Anton-Culver, H., Antoniou, A. C., Arndt, V., Augustinsson, A., Bermisheva, M., Bodelon, C., Bogdanova, N. V., Bojesen, S. E., Brenner, H., Byers, H., Dossus, L., Eccles, D. M., Eliassen, A. H., Eriksson, M., Evans, G. & Fasching, P. & 6 andra, Hall, P., Jernström, H., Elkon, R., BCAC Consortium, NBCS Collaborators & ABCTB Investigators, 2023, I: Journal of Medical Genetics. 60, 12, s. 1186-1197 12 s.

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2022

Distinct Reproductive Risk Profiles for Intrinsic-Like Breast Cancer Subtypes: Pooled Analysis of Population-Based Studies

Jung, A. Y., Ahearn, T. U., Behrens, S., Middha, P., Bolla, M. K., Wang, Q., Arndt, V., Aronson, K. J., Augustinsson, A., Beane Freeman, L. E., Becher, H., Brenner, H., Canzian, F., Carey, L. A., Czene, K., Eliassen, A. H., Eriksson, M., Evans, D. G., Figueroa, J. D. & Fritschi, L. & 31 andra, Gabrielson, M., Giles, G. G., Guénel, P., Hadjisavvas, A., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Hoppe, R., Hopper, J. L., Howell, A., Hunter, D. J., Hüsing, A., Kaaks, R., Kosma, V.-M., Koutros, S., Kraft, P., Lacey, J. V., Le Marchand, L., Lissowska, J., Loizidou, M. A., Mannermaa, A., Maurer, T., Murphy, R. A., Olshan, A. F., Olsson, H., Patel, A. V., Perou, C. M., Rennert, G., Shibli, R. & CTS Consortium, 2022 dec. 8, I: Journal of the National Cancer Institute. 114, 12, s. 1706-1719 14 s.

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Common variants in breast cancer risk loci predispose to distinct tumor subtypes

Ahearn, T. U., Augustinsson, A., Krüger, U., Olsson, H., Wagner, P., Chatterjee, N. C., NBCS Collaborators, kConFab/AOCS Investigators & ABCTB Investigators, 2022, I: Breast Cancer Research. 24, 1, 2.

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Genome-wide interaction analysis of menopausal hormone therapy use and breast cancer risk among 62,370 women

Wang, X., Olsson, H., Augustinsson, A., Krüger, U., Wagner, P., Lindström, S. & et al., 2022, I: Scientific Reports. 12, 1, 6199.

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Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study

Dixon-Suen, S. C., Augustinsson, A., Olsson, H., Lynch, B. M. & Breast Cancer Association Consortium, 2022, I: British journal of sports medicine. 56, 20, s. 1157-1170

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk

Dareng, E. O., Augustinsson, A., Olsson, H., Pharoah, P. D., et al., GEMO Study Collaborators, GC-HBOC Study Collaborators, EMBRACE Collaborators, OPAL study group, AOCS study group, KConFab Investigators, HEBON Investigators, OCAC Consortium & CIMBA Consortium, 2022, I: European Journal of Human Genetics. 30, 3, s. 349-362 14 s.

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2021

Genetic insights into biological mechanisms governing human ovarian ageing

Ruth, K. S., Day, F. R., Hussain, J., Martínez-Marchal, A., Aiken, C. E., Azad, A., Thompson, D. J., Knoblochova, L., Abe, H., Tarry-Adkins, J. L., Gonzalez, J. M., Fontanillas, P., Claringbould, A., Bakker, O. B., Sulem, P., Walters, R. G., Terao, C., Turon, S., Horikoshi, M. & Lin, K. & 39 andra, Onland-Moret, N. C., Sankar, A., Hertz, E. P. T., Timshel, P. N., Shukla, V., Borup, R., Olsen, K. W., Aguilera, P., Ferrer-Roda, M., Huang, Y., Stankovic, S., Timmers, P. R. H. J., Ahearn, T. U., Alizadeh, B. Z., Naderi, E., Andrulis, I. L., Arnold, A. M., Aronson, K. J., Augustinsson, A., Bandinelli, S., Barbieri, C. M., Beaumont, R. N., Becher, H., Beckmann, M. W., Benonisdottir, S., Bergmann, S., Bochud, M., Boerwinkle, E., Hall, P., Olsson, H., Perry, J. R. B., China Kadoorie Biobank Collaborative Group, KConFab Investigators, Lifelines Cohort Study, The InterAct consortium, 23andMe Research Team, Biobank-based Integrative Omics Study (BIOS) Consortium, eQTLGen consortium & The Biobank Japan Project, 2021 aug. 19, I: Nature. 596, 7872, s. 393-397 5 s.

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Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment

Morra, A., Escala-Garcia, M., Beesley, J., Keeman, R., Canisius, S., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Arndt, V., Auer, P. L., Augustinsson, A., Beane Freeman, L. E., Becher, H., Beckmann, M. W., Behrens, S., Bojesen, S. E., Bolla, M. K., Brenner, H., Brüning, T. & Buys, S. S. & 33 andra, Caan, B., Campa, D., Canzian, F., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Cheng, T. Y. D., Clarke, C. L., Colonna, S. V., Couch, F. J., Cox, A., Cross, S. S., Czene, K., Daly, M. B., Dennis, J., Dörk, T., Dossus, L., Dunning, A. M., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Eriksson, M., Evans, D. G., Fasching, P. A., Flyger, H., Fritschi, L., Gago-Dominguez, M., Hall, P., Olsson, H., NBCS Collaborators, ABCTB Investigators & KConFab Investigators, 2021 aug. 18, I: Breast cancer research : BCR. 23, 1, s. 86 1 s.

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A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

et al., Coignard, J., Augustinsson, A., Olsson, H., Borg, Å. & Antoniou, A. C., 2021, I: Nature Communications. 12, 1, 1078.

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Breast cancer risk factors and survival by tumor subtype: pooled analyses from the Breast Cancer Association Consortium

Augustinsson, A., Olsson, H. & Breast Cancer Association Consortium, 2021, I: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 30, 4, s. 623-642

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CYP3A7*1C allele: linking premenopausal oestrone and progesterone levels with risk of hormone receptor-positive breast cancers

Johnson, N., Augustinsson, A., Brenner, H., Burwinkel, B., Hall, P., Olsson, H., NBCS Collaborators & Fletcher, O., 2021, I: British Journal of Cancer. 124, 4, s. 842-854

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Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

Baxter, J. S., Augustinsson, A., Olsson, H., Fletcher, O., NBCS Collaborators & ABCTB Investigators, 2021, I: American Journal of Human Genetics. 108, 7, s. 1190-1203 14 s.

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Genetic testing in women with early-onset breast cancer: a Traceback pilot study

Augustinsson, A., Nilsson, M. P., Ellberg, C., Kristoffersson, U., Olsson, H. & Ehrencrona, H., 2021, I: Breast Cancer Research and Treatment. 190, 2, s. 307-315

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Germline variants and breast cancer survival in patients with distant metastases at primary breast cancer diagnosis

Escala-Garcia, M., Augustinsson, A., Olsson, H., Schmidt, M. K., kConFab/AOCS Investigators & et al., 2021, I: Scientific Reports. 11, 1, 19787.

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Mendelian randomisation study of smoking exposure in relation to breast cancer risk

Park, H. A., Neumeyer, S., Michailidou, K., Bolla, M. K., Wang, Q., Dennis, J., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Augustinsson, A., Baten, A., Beane Freeman, L. E., Becher, H., Beckmann, M. W., Behrens, S., Benitez, J. & Bermisheva, M. & 34 andra, Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brenner, H., Brucker, S. Y., Burwinkel, B., Campa, D., Canzian, F., Castelao, J. E., Chanock, S. J., Chenevix-Trench, G., Clarke, C. L., Børresen-Dale, A. L., Grenaker Alnæs, G. I., Sahlberg, K. K., Ottestad, L., Kåresen, R., Schlichting, E., Holmen, M. M., Sauer, T., Haakensen, V., Engebråten, O., Naume, B., Fosså, A., Kiserud, C. E., Reinertsen, K. V., Helland, Å., Riis, M., Geisler, J., Olsson, H., et al., NBCS Collaborators, ABCTB Investigators & KConFab Investigators, 2021, I: British Journal of Cancer. 125, 8, s. 1135-1145

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2020

Variations in the Referral Pattern for Genetic Counseling of Patients with Early-Onset Breast Cancer: A Population-Based Study in Southern Sweden

Augustinsson, A., Ellberg, C., Kristoffersson, U., Olsson, H. & Ehrencrona, H., 2020 sep., I: Public Health Genomics. 23, 3-4, s. 100-109 10 s.

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Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

Liu, J., Augustinsson, A., Olsson, H., Hollestelle, A., NBCS Collaborators, OSBREAC & ABCTB Investigators, 2020 juni 16, I: Scientific Reports. 10, 1, 9688.

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Assessment of interactions between 205 breast cancer susceptibility loci and 13 established risk factors in relation to breast cancer risk, in the Breast Cancer Association Consortium

Augustinsson, A. & Breast Cancer Association Consortium, 2020 feb. 1, I: International Journal of Epidemiology. 49, 1, s. 216-232 17 s.

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Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

Kramer, I., Augustinsson, A., Schmidt, M. K. & et al., 2020, I: American Journal of Human Genetics. 107, 5, s. 837-848 12 s.

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2019

Two truncating variants in FANCC and breast cancer risk

Dörk, T., Augustinsson, A., Olsson, H., Easton, D. F., ABCTB Investigators & NBCS Collaborators, 2019, I: Scientific Reports. 9, 1

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2018

Accuracy of self-reported family history of cancer, mutation status and tumor characteristics in patients with early onset breast cancer

Augustinsson, A., Ellberg, C., Kristoffersson, U., Borg, Å. & Olsson, H., 2018, I: Acta Oncologica. 57, 5, s. 595-603

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Annelie Augustinsson

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