Tischkowitz, Marc

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

Kuchenbaecker, K. B., Hopper, J. L., Barnes, D. R., Phillips, K.-A., Mooij, T. M., Roos-Blom, M.-J., Jervis, S., van Leeuwen, F. E., Milne, R. L., Andrieu, N., et al. (2017) · JAMA

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Cancer Risks for BRCA1 and BRCA2 Mutation Carriers: Results From Prospective Analysis of EMBRACE

Mavaddat, N., Peock, S., Frost, D., Ellis, S., Platte, R., Fineberg, E., Evans, D. G., Izatt, L., Eeles, R. A., Adlard, J., et al. (2013) · JNCI: Journal of the National Cancer Institute

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer

Reid, S., Schindler, D., Hanenberg, H., Barker, K., Hanks, S., Kalb, R., Neveling, K., Kelly, P., Seal, S., Freund, M., et al. (2007) · Nature Genetics

DNA Repair MechanismsBRCA gene mutations in cancer

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Evidence for 28 genetic disorders discovered by combining healthcare and research data

Kaplanis, J., Samocha, K. E., Wiel, L., Zhang, Z., Arvai, K. J., Eberhardt, R. Y., Gallone, G., Lelieveld, S. H., Martin, H. C., McRae, J. F., et al. (2020) · Nature

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Whole-genome sequencing of patients with rare diseases in a national health system

Turro, E., Astle, W. J., Megy, K., Gräf, S., Greene, D., Shamardina, O., Allen, H. L., Sanchis-Juan, A., Frontini, M., Thys, C., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., et al. (2015) · JAMA

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer

EMBRACE, Kuchenbaecker, K. B., Collaborators, G. S., Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Ramus, S. J., et al. (2015) · Nature Genetics

BRCA gene mutations in cancerOvarian cancer diagnosis and treatment

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Germline Testing in Patients With Breast Cancer: ASCO–Society of Surgical Oncology Guideline

Bedrosian, I., Somerfield, M. R., Achatz, M. I., Boughey, J. C., Curigliano, G., Friedman, S., Kohlmann, W. K., Kurian, A. W., Laronga, C., Lynce, F., et al. (2024) · Journal of Clinical Oncology

BRCA gene mutations in cancerBreast Lesions and Carcinomas

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Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

EMBRACE, Dunning, A. M., Collaborators, G. S., HEBON, kConFab Investigators, Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyEstrogen and related hormone effects

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Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Thormann, A., Halachev, M., McLaren, W., Moore, D. J., Svinti, V., Campbell, A., Kerr, S. M., Tischkowitz, M., Hunt, S. E., Dunlop, M. G., et al. (2019) · Nature Communications

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

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Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype

Sadleir, L. G., Mountier, E. I., Gill, D., Davis, S., Joshi, C., DeVile, C., Kurian, M. A., Study, F. T. D., Mandelstam, S., Wirrell, E., et al. (2017) · Neurology

Epilepsy research and treatmentIon channel regulation and function

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Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32, 295 women

EMBRACE, Rebbeck, T. R., HEBON, Friebel, T. M., Mitra, N., Wan, F., Chen, S., Andrulis, I. L., Apostolou, P., Arnold, N., et al. (2016) · Breast Cancer Research

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

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Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe

Marmolejo, D. H., Wong, M. Y. Z., Bajalica-Lagercrantz, S., Tischkowitz, M., Balmaña, J., Patócs, A. B., Chappuis, P., Colas, C., Genuardi, M., Haanpää, M., et al. (2021) · European Journal of Medical Genetics

BRCA gene mutations in cancerBreast Lesions and Carcinomas

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The PARTNER trial of neoadjuvant olaparib with chemotherapy in triple-negative breast cancer

Abraham, J. E., Pinilla, K., Dayimu, A., Grybowicz, L., Demiris, N., Harvey, C., Drewett, L. M., Lucey, R., Fulton, A., Roberts, A. N., et al. (2024) · Nature

PARP inhibition in cancer therapyBreast Cancer Treatment Studies

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The clinical presentation caused by truncating CHD8 variants

Douzgou, S., Liang, H. W., Metcalfe, K., Somarathi, S., Tischkowitz, M., Mohamed, W., Kini, U., McKee, S., Yates, L., Bertoli, M., et al. (2019) · Clinical Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Ito, Y., Carss, K. J., Duarte, S. T., Hartley, T., Keren, B., Kurian, M. A., Marey, I., Charles, P., Mendonça, C., Nava, C., et al. (2018) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

McRae, J. F., Clayton, S., Fitzgerald, T. W., Kaplanis, J., Prigmore, E., Rajan, D., Sifrim, A., Aitken, S., Akawi, N., Alvi, M., et al. (2016) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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PARTNER: A randomized, phase II/III trial to evaluate the safety and efficacy of the addition of olaparib to platinum-based neoadjuvant chemotherapy in patients with triple-negative and/or germline BRCA-mutated breast cancer.

Drewett, L., Lucey, R., Pinilla, K. A., Grybowicz, L., Wulff, J., Dayimu, A., Demiris, N., Vallier, A.-L., Qian, W., Machin, A., et al. (2022) · Journal of Clinical Oncology

PARP inhibition in cancer therapyBRCA gene mutations in cancer

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