Výsledky vyhledávání - "Ovarian Neoplasms/genetics"

Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes

Autor: Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner, Qin Hao, Martin Larsen, Anne-Vibeke Lænkholm, Åke Borg, Anders Kvist, Therese Törngren, Uffe Birk Jensen, Susanne Eriksen Boonen, Mads Thomassen, Thorkild Terkelsen

Publikováno v: Møller, N B, Boonen, D S, Feldner, E S, Hao, Q, Larsen, M, Lænkholm, A-V, Borg, Å, Kvist, A, Törngren, T, Jensen, U B, Boonen, S E, Thomassen, M & Terkelsen, T 2023, ' Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes ', Scientific Reports, vol. 13, no. 1, pp. 8536 . https://doi.org/10.1038/s41598-023-35755-8

BOADICEA is a comprehensive risk prediction model for breast and/or ovarian cancer (BC/OC) and for carrying pathogenic variants (PVs) in cancer susceptibility genes. In addition to BRCA1 and BRCA2, BOADICEA version 6 includes PALB2, CHEK2, ATM, BARD1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2c40ca16d46d004273875767c67d265
https://pure.au.dk/portal/da/publications/validation-of-the-boadicea-model-for-predicting-the-likelihood-of-carrying-pathogenic-variants-in-eight-breast-and-ovarian-cancer-susceptibility-genes(79f68c2a-fc76-469e-a299-89e80fe8331b).html

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Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer

Publikováno v: Cancers, 14(23):5965. MDPI AG
Cancers, 14(23):5965. Multidisciplinary Digital Publishing Institute (MDPI)
van Wagensveld, L, van Baal, J O A M, Timmermans, M, Gaillard, D, Borghuis, L, Coffelt, S B, Rosenberg, E H, Lok, C A R, Nijman, H W, Kooreman, L F S, Sanders, J, de Bruijn, M, Wessels, L F A, van der Wiel, R, Rausch, C, Broeks, A, Kruitwagen, R F P M, van der Aa, M A, Sonke, G S, Schouten, P C, van de Vijver, K K & Horlings, H M 2022, ' Homologous Recombination Deficiency and Cyclin E1 Amplification Are Correlated with Immune Cell Infiltration and Survival in High-Grade Serous Ovarian Cancer ', Cancers, vol. 14, no. 23, 5965 . https://doi.org/10.3390/cancers14235965
Cancers; Volume 14; Issue 23; Pages: 5965

How the tumor’s genetic make up (i.e. molecular profiles) is associated with changes in the tumor microenvironment (TME) in high-grade serous ovarian cancer (HGSOC) is incompletely understood, while these factors influence survival. To investigate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1c94e8bc0d36e88c8be7ad3767ec6d1
https://doi.org/10.3390/cancers14235965

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Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers

Autor: Julie Wissely, Elaine F. Harkness, D. Gareth Evans, Richard J. Edmondson, Anthony Howell, Ruta Marcinkute, Ashu Gandhi, John D. Murphy, Cathrine Holland, Emma R. Woodward, Lester Barr, Richard D Clayton, James Harvey, Emma J Crosbie, Lindsay Highton, Fiona Lalloo, Sacha J Howell

Publikováno v: Marcinkute, R, Woodward, E, Gandhi, A, Howell, S, Crosbie, E, Wisely, J, Harvey, J, Highton, L, Murphy, J, Holland, C, Edmondson, R, Clayton, R D, Barr, L, Harkness, E, Howell, T, Lalloo, F & Evans, D G 2022, ' Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers ', Journal of Medical Genetics, vol. 59, no. 2, pp. 133-140 . https://doi.org/10.1136/jmedgenet-2020-107356

BackgroundWomen testing positive for BRCA1/2 pathogenic variants have high lifetime risks of breast cancer (BC) and ovarian cancer. The effectiveness of risk reducing surgery (RRS) has been demonstrated in numerous previous studies. We evaluated long

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997a32dbc10eeedd18310d6f30b7e35e
https://doi.org/10.1136/jmedgenet-2020-107356

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Surgical decision making in premenopausal BRCA carriers considering risk reducing early-salpingectomy or salpingo-oophorectomy: a Qualitative Study

Autor: W. Glenn McCluggage, Usha Menon, Sadiyah Robbani, Ertan Saridogan, Dalya Marks, Helen Hanson, Charlotte Tyson, Naveena Singh, Faiza Gaba, Shivam Goyal, D Chandrasekaran, D. Gareth Evans, Ranjit Manchanda, Protector team, Rosa Legood, Olivia Evans

Publikováno v: PROTECTOR team & Evans, D G 2022, ' Surgical decision making in premenopausal BRCA carriers considering risk reducing early-salpingectomy or salpingo-oophorectomy: a Qualitative Study ', Journal of Medical Genetics, vol. 59, no. 2, pp. 122-132 . https://doi.org/10.1136/jmedgenet-2020-107501

BackgroundAcceptance of the role of the fallopian tube in ‘ovarian’ carcinogenesis and the detrimental sequelae of surgical menopause in premenopausal women following risk-reducing salpingo-oophorectomy (RRSO) has resulted in risk-reducing early-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb4743b11ec984a7ec96f7565634d475
http://europepmc.org/abstract/med/33568437

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Mutation Patterns in Portuguese Families with Hereditary Breast and Ovarian Cancer Syndrome

Autor: Rodrigo Vicente, Diogo Alpuim Costa, Marina Vitorino, Ana Duarte Mendes, Catarina Santos, Mário Fontes-Sousa

Germline pathogenic variants in the Breast Cancer Genes 1 (BRCA1) and 2 (BRCA2) are responsible for Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Genetic susceptibility to breast cancer accounts for 5-10% of all cases, phenotypically presenti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88a5f4dba230a485940d7f9e1b34c19e
https://hdl.handle.net/10400.26/42074

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Akademický článek

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Durable response to palbociclib and letrozole in ovarian cancer withCDKN2Aloss

Autor: Sophie Clément, Pierre O. Chappuis, Alexandre Bodmer, Krisztian Homicsko, Yann Christinat, Melinda Charrier, Olivier Michielin, Petros Tsantoulis, Daniele Frisone, Thomas Alexander Mckee, Laure Thouvenin

Publikováno v: Cancer biology & therapy, vol. 21, no. 3, pp. 197-202
Cancer Biology and Therapy, Vol. 21, No 3 (2020) pp. 197-202

Alterations of the Retinoblastoma (Rb) pathway are frequent in ovarian cancer, typically resulting from CDKN2A down-regulation, CCNE1 amplification, CCND1/2 amplification, and RB1 loss. However, bi-allelic CDKN2A mutation or homozygous deletion is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::352c882e2c41b9625dab34c1f829ff27
https://doi.org/10.1080/15384047.2019.1685291

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Inferring structural variant cancer cell fraction

Autor: Cmero, Marek, Yuan, Ke, Ong, Cheng Soon, Schröder, Jan, Corcoran, Niall M., Papenfuss, Tony, Hovens, Christopher M., Markowetz, Florian, Macintyre, Geoff, Adams, David J., Anur, Pavana, Beroukhim, Rameen, Boutros, Paul C., Bowtell, David D. L., Campbell, Peter J., Cao, Shaolong, Christie, Elizabeth L., Cun, Yupeng, Dawson, Kevin J., Demeulemeester, Jonas, Dentro, Stefan C., Deshwar, Amit G., Donmez, Nilgun, Drews, Ruben M., Eils, Roland, Fan, Yu, Fittall, Matthew W., Garsed, Dale W., Gerstung, Moritz, Getz, Gad, Gonzalez, Santiago, Ha, Gavin, Haase, Kerstin, Imielinski, Marcin, Jerman, Lara, Ji, Yuan, Jolly, Clemency, Kleinheinz, Kortine, Lee, Juhee, Lee-Six, Henry, Leshchiner, Ignaty, Livitz, Dimitri, Malikic, Salem, Martincorena, Iñigo, Mitchell, Thomas J., Morris, Quaid D., Mustonen, Ville, Oesper, Layla, Peifer, Martin, Peto, Myron, Raphael, Benjamin J., Rosebrock, Daniel, Rubanova, Yulia, Sahinalp, S. Cenk, Salcedo, Adriana, Schlesner, Matthias, Schumacher, Steven E., Sengupta, Subhajit, Shi, Ruian, Shin, Seung Jun, Spellman, Paul T., Spiro, Oliver, Stein, Lincoln D., Tarabichi, Maxime, Van Loo, Peter, Vembu, Shankar, Vázquez-García, Ignacio, Wang, Wenyi, Wedge, David C., Wheeler, David A., Wintersinger, Jeffrey A., Yang, Tsun-Po, Yao, Xiaotong, Yu, Kaixian, Zhu, Hongtu

Publikováno v: Nature communications, vol 11, iss 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Nature Communications, 11
Nature Communications, 11, 1
Cmero, M, Yuan, K, Ong, C S, Schröder, J, Adams, D J, Anur, P, Beroukhim, R, Boutros, P C, Bowtell, D D L, Campbell, P J, Cao, S, Christie, E L, Cun, Y, Dawson, K J, Demeulemeester, J, Dentro, S C, Deshwar, A G, Donmez, N, Drews, R M, Eils, R, Fan, Y, Fittall, M W, Garsed, D W, Gerstung, M, Getz, G, Gonzalez, S, Ha, G, Haase, K, Imielinski, M, Jerman, L, Ji, Y, Jolly, C, Kleinheinz, K, Lee, J, Lee-Six, H, Leshchiner, I, Livitz, D, Malikic, S, Martincorena, I, Mitchell, T J, Morris, Q D, Mustonen, V, Oesper, L, Peifer, M, Peto, M, Raphael, B J, Rosebrock, D, Rubanova, Y, Sahinalp, S C, Salcedo, A, Schlesner, M, Schumacher, S E, Sengupta, S, Shi, R, Shin, S J, Spellman, P T, Spiro, O, Stein, L D, Tarabichi, M, Van Loo, P, Vembu, S, Vázquez-García, I, Wang, W, Wedge, D C, Wheeler, D A, Wintersinger, J A, Yang, T-P, Yao, X, Yu, K, Zhu, H, Corcoran, N M, Papenfuss, T, Hovens, C M, Markowetz, F & Macintyre, G 2020, ' Inferring structural variant cancer cell fraction ', Nature Communications, vol. 11, no. 1 . https://doi.org/10.1038/s41467-020-14351-8

We present SVclone, a computational method for inferring the cancer cell fraction of structural variant (SV) breakpoints from whole-genome sequencing data. SVclone accurately determines the variant allele frequencies of both SV breakends, then simult

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0101d219e26fc7313f20519ac4e4dfc2
https://doi.org/10.1038/s41467-020-14351-8

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A Complex Network of Tumor Microenvironment in Human High-Grade Serous Ovarian Cancer

Publikováno v: Clinical Cancer Research, 23(24), 7621-7632. American Association for Cancer Research Inc.
Clinical Cancer Research
Clinical Cancer Research, American Association for Cancer Research, 2017, 23 (24), pp.7621-7632. ⟨10.1158/1078-0432.CCR-17-1159⟩
Clinical Cancer Research, 23(24), 7621-7632. AMER ASSOC CANCER RESEARCH

Purpose: Most high-grade serous ovarian cancer (HGSOC) patients develop recurrent disease after first-line treatment, frequently with fatal outcome. This work aims at studying the molecular biology of both primary and recurrent HGSOC. Experimental De

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688a953de5c5509aa0a2d94c5640f084
https://hdl.handle.net/11370/7ba817a9-3535-4272-a68a-c4a3c732454e

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The ovarian cancer oncobiome

Autor: Zhi Wei, Michael Feldman, Natalie Shih, Erle S. Robertson, George Coukos, S. Banerjee, Tian Tian, James C. Alwine

Publikováno v: Oncotarget, vol. 8, no. 22, pp. 36225-36245
Oncotarget

// Sagarika Banerjee 1 , Tian Tian 2 , Zhi Wei 2 , Natalie Shih 3 , Michael D. Feldman 3 , James C. Alwine 4 , George Coukos 5 , Erle S. Robertson 1 1 Department of Otorhinolaryngology-Head and Neck Surgery, University of Pennsylvania, Philadelphia,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f96dff3515147412265e10d253ce8d5d
https://doi.org/10.18632/oncotarget.16717

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