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Start Over Author "Yannoukakos, Drakoulis" Publisher hindawi limited
14 results on '"Yannoukakos, Drakoulis"'

1. CanVaS: Documenting the genetic variation spectrum of Greek cancer patients

Author

Kalfakakou, Despoina, primary, Fostira, Florentia, additional, Papathanasiou, Athanasios, additional, Apostolou, Paraskevi, additional, Dellatola, Vasiliki, additional, Gavra, Ioanna E., additional, Vlachos, Ioannis S., additional, Scouras, Zacharias G., additional, Drosopoulou, Eleni, additional, Yannoukakos, Drakoulis, additional, and Konstantopoulou, Irene, additional

Published
2021
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2. Re‐evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant

Author

Goldberg, Yael, primary, Laitman, Yael, additional, Ben David, Merav, additional, Bazak, Lily, additional, Lidzbarsky, Gabriel, additional, Salmon, Lina B., additional, Shkedi‐Rafid, Shiri, additional, Barshack, Iris, additional, Avivi, Camila, additional, Darawshe, Malak, additional, Shomron, Noam, additional, Bruchim, Revital, additional, Vinkler, Chana, additional, Yannoukakos, Drakoulis, additional, Fostira, Florentia, additional, Bernstein‐Molho, Rinat, additional, and Friedman, Eitan, additional

Published
2021
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3. The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

Author

Colombo, Mara, Lòpez-Perolio, Irene, Meeks, Huong D, Caleca, Laura, Parsons, Michael T, Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y, Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K, Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Beckmann, Matthias W, Beeghly-Fadel, Alicia, Benitez, Javier, Boeckx, Bram, Bogdanova, Natalia V, Bojesen, Stig E, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, Chang-Claude, Jenny, Conroy, Don M, Couch, Fergus J, Cox, Angela, Cross, Simon S, Czene, Kamila, Devilee, Peter, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A, Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, García-Closas, Montserrat, Giles, Graham G, González-Neira, Anna, Guénel, Pascal, Haiman, Christopher A, Hall, Per, Hamann, Ute, Hartman, Mikael, Hauke, Jan, Hollestelle, Antoinette, Hopper, John L, Jakubowska, Anna, Jung, Audrey, Kosma, Veli-Matti, Lambrechts, Diether, Le Marchand, Loid, Lindblom, Annika, Lubinski, Jan, Mannermaa, Arto, Margolin, Sara, Miao, Hui, Milne, Roger L, Neuhausen, Susan L, Nevanlinna, Heli, Olson, Janet E, Peterlongo, Paolo, Peto, Julian, Pylkäs, Katri, Sawyer, Elinor J, Schmidt, Marjanka K, Schmutzler, Rita K, Schneeweiss, Andreas, Schoemaker, Minouk J, See, Mee Hoong, Southey, Melissa C, Swerdlow, Anthony, Teo, Soo H, Toland, Amanda E, Tomlinson, Ian, Truong, Thérèse, Van Asperen, Christi J, Van Den Ouweland, Ans MW, Van Der Kolk, Lizet E, Winqvist, Robert, Yannoukakos, Drakoulis, Zheng, Wei, KConFab/AOCS Investigators, Dunning, Alison M, Easton, Douglas F, Henderson, Alex, Hogervorst, Frans BL, Izatt, Louise, Offitt, Kenneth, Side, Lucy E, Van Rensburg, Elizabeth J, Embrace, Study, Hebon, Study, McGuffog, Lesley, Antoniou, Antonis C, Chenevix-Trench, Georgia, Spurdle, Amanda B, Goldgar, David E, Hoya, Miguel De La, and Radice, Paolo

Subjects
BRCA2 Protein, Base Sequence, Models, Genetic, digital PCR, multifactorial likelihood analysis, spliceogenic variants, Mitomycin, RNA Splicing, Genetic Variation, Exons, BRCA2, Cell Line, Calibration, Humans, Female, Genetic Predisposition to Disease, quantitative real-time PCR, RNA, Messenger
Abstract

Although the spliceogenic nature of the BRCA2 c.68-7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real-time PCR and digital PCR (dPCR), the BRCA2 isoforms retaining or missing exon 3. In addition, the combined odds ratio for causality of the variant was estimated using genetic and clinical data, and its associated cancer risk was estimated by case-control analysis in 83,636 individuals. Co-occurrence in trans with pathogenic BRCA2 variants was assessed in 5,382 families. Exon 3 exclusion rate was 4.5-fold higher in variant carriers (13%) than controls (3%), indicating an exclusion rate for the c.68-7T > A allele of approximately 20%. The posterior probability of pathogenicity was 7.44 × 10-115 . There was neither evidence for increased risk of breast cancer (OR 1.03; 95% CI 0.86-1.24) nor for a deleterious effect of the variant when co-occurring with pathogenic variants. Our data provide for the first time robust evidence of the nonpathogenicity of the BRCA2 c.68-7T > A. Genetic and quantitative transcript analyses together inform the threshold for the ratio between functional and altered BRCA2 isoforms compatible with normal cell function. These findings might be exploited to assess the relevance for cancer risk of other BRCA2 spliceogenic variants.

Published
2018
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4. The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Author

Laitman, Yael, primary, Friebel, Tara M., additional, Yannoukakos, Drakoulis, additional, Fostira, Florentia, additional, Konstantopoulou, Irene, additional, Figlioli, Gisella, additional, Bonanni, Bernardo, additional, Manoukian, Siranoush, additional, Zuradelli, Monica, additional, Tondini, Carlo, additional, Pasini, Barbara, additional, Peterlongo, Paolo, additional, Plaseska‐Karanfilska, Dijana, additional, Jakimovska, Milena, additional, Majidzadeh, Keivan, additional, Zarinfam, Shiva, additional, Loizidou, Maria A., additional, Hadjisavvas, Andreas, additional, Michailidou, Kyriaki, additional, Kyriacou, Kyriacos, additional, Behar, Doron M., additional, Molho, Rinat Bernstein, additional, Ganz, Patricia, additional, James, Paul, additional, Parsons, Michael T., additional, Sallam, Aminah, additional, Olopade, Olufunmilayo I., additional, Seth, Arun, additional, Chenevix ‐ Trench, Georgia, additional, Leslie, Goska, additional, McGuffog, Lesley, additional, Marafie, Makia J, additional, Megarbane, Andre, additional, Al‐Mulla, Fahd, additional, Rebbeck, Timothy R., additional, and Friedman, Eitan, additional

Published
2019
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6. Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system

Author

Delimitsou, Angeliki, primary, Fostira, Florentia, additional, Kalfakakou, Despoina, additional, Apostolou, Paraskevi, additional, Konstantopoulou, Irene, additional, Kroupis, Christos, additional, Papavassiliou, Athanasios G., additional, Kleibl, Zdenek, additional, Stratikos, Efstratios, additional, Voutsinas, Gerassimos E., additional, and Yannoukakos, Drakoulis, additional

Published
2019
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8. BRCA2 gene mutations in Greek patients with familial breast cancer

Author

Armakolas, Athanasios, primary, Ladopoulou, Angela, additional, Konstantopoulou, Irene, additional, Pararas, B., additional, Gomatos, Ilias P., additional, Kataki, Agapi, additional, Konstadoulakis, Manoussos M., additional, Stathopoulos, George P., additional, Markopoulos, Christopher, additional, Leandros, Emmanouil, additional, Gogas, Ioannis, additional, Yannoukakos, Drakoulis, additional, and Androulakis, George, additional

Published
2001
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9. BRCA1 mutation analysis in breast/ovarian cancer families from Greece

Author

Konstantopoulou, Irene, primary, Kroupis, Christos, additional, Ladopoulou, Angela, additional, Pantazidis, Alexandros, additional, Boumba, Dimitra, additional, Lianidou, Evriklia S., additional, Petersen, Michael B., additional, Florentin, Lina, additional, Chiotellis, Efstratios, additional, Nounesis, George, additional, Efstathiou, Eleni, additional, Skarlos, Dimosthenis, additional, Tsionou, Christina, additional, Fountzilas, George, additional, and Yannoukakos, Drakoulis, additional

Published
2000
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10. A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.

Author

Fostira, Florentia, Tsoukalas, Nikolaos, Konstantopoulou, Irene, Georgoulias, Vassilios, Christophyllakis, Charalambos, and Yannoukakos, Drakoulis

Subjects
BRCA genes, GENETIC mutation, BREAST cancer patients, DISEASE progression, CANCER chemotherapy
Abstract

This report highlights the necessity of genetic testing, at least for BRCA1 mutations, of young females diagnosed with triple negative breast cancer, even in the absence of or limited family history. A 34-year-old female with a locally advanced, triple negative tumour, which perforated the skin, is described. At the time of diagnosis, the patient had already multiple lung metastases and although chemotherapy was started immediately, she died with rapid systemic disease progression. The patient was found to carry the BRCA1 p.E1060X mutation, which is located on exon 11 of the gene. The high penetrance of BRCA1 gene is not represented in the patient's family, since the mutation was paternally inherited. It is evident that females belonging to small families, along with paternal inheritance of pathogenic BRCA mutations that predispose for breast cancer, in most cases will probably be genetically tested only after being diagnosed with cancer. [ABSTRACT FROM AUTHOR]

Published
2014
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11. Atypical Medullary Breast Carcinoma in a Family Carrying the 5382insC BRCA-1 Mutation.

Author

Kroupis, Christos, Lianidou, Evriklia, Nikos Goutas, Ladopoulou, Angela, Konstantopoulou, Irene, Pantazidis, Alexandros, Yannoukakos, Drakoulis, Efstathiou, Eleni, Vourlidis, Nikos, and Tsionou, Christina

Subjects
BREAST cancer, OVARIAN tumors, GENETICS, GENETIC mutation
Abstract

Focuses on the possible cause of hereditary breast or ovarian cancer due to tumor suppressor genes BRCA-1 and BRCA-2. Problems faced while conducting mutation analysis for the two genes; Comparison between BRCA-1 and BRCA-2.

Published
2003
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12. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations

Author

Rebbeck, Timothy R, Friebel, Tara M, Friedman, Eitan, Hamann, Ute, Huo, Dezheng, Kwong, Ava, Olah, Edith, Olopade, Olufunmilayo I, Solano, Angela R, Teo, Soo-Hwang, Thomassen, Mads, Weitzel, Jeffrey N, Chan, TL, Couch, Fergus J, Goldgar, David E, Kruse, Torben A, Palmero, Edenir Inêz, Park, Sue Kyung, Torres, Diana, Van Rensburg, Elizabeth J, McGuffog, Lesley, Parsons, Michael T, Leslie, Goska, Aalfs, Cora M, Abugattas, Julio, Adlard, Julian, Agata, Simona, Aittomäki, Kristiina, Andrews, Lesley, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Arun, Banu K, Asseryanis, Ella, Auerbach, Leo, Azzollini, Jacopo, Balmaña, Judith, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Benitez, Javier, Berger, Andreas, Berger, Raanan, Blanco, Amie M, Blazer, Kathleen R, Blok, Marinus J, Bonadona, Valérie, Bonanni, Bernardo, Bradbury, Angela R, Brewer, Carole, Buecher, Bruno, Buys, Saundra S, Caldes, Trinidad, Caliebe, Almuth, Caligo, Maria A, Campbell, Ian, Caputo, Sandrine M, Chiquette, Jocelyne, Chung, Wendy K, Claes, Kathleen BM, Collée, J Margriet, Cook, Jackie, Davidson, Rosemarie, De La Hoya, Miguel, De Leeneer, Kim, De Pauw, Antoine, Delnatte, Capucine, Diez, Orland, Ding, Yuan Chun, Ditsch, Nina, Domchek, Susan M, Dorfling, Cecilia M, Velazquez, Carolina, Dworniczak, Bernd, Eason, Jacqueline, Easton, Douglas F, Eeles, Ros, Ehrencrona, Hans, Ejlertsen, Bent, EMBRACE, Engel, Christoph, Engert, Stefanie, Evans, D Gareth, Faivre, Laurence, Feliubadaló, Lidia, Ferrer, Sandra Fert, Foretova, Lenka, Fowler, Jeffrey, Frost, Debra, Galvão, Henrique CR, Ganz, Patricia A, Garber, Judy, Gauthier-Villars, Marion, Gehrig, Andrea, GEMO Study Collaborators, Gerdes, Anne-Marie, Gesta, Paul, Giannini, Giuseppe, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Greene, Mark H, Gronwald, Jacek, Gutierrez-Barrera, Angelica, Hahnen, Eric, Hauke, Jan, HEBON, Henderson, Alex, Hentschel, Julia, Hogervorst, Frans BL, Honisch, Ellen, Imyanitov, Evgeny N, Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Vijai, Joseph, Kaczmarek, Katarzyna, Karlan, Beth Y, Kast, Karin, Investigators, KConFab, Kim, Sung-Won, Konstantopoulou, Irene, Korach, Jacob, Laitman, Yael, Lasa, Adriana, Lasset, Christine, Lázaro, Conxi, Lee, Annette, Lee, Min Hyuk, Lester, Jenny, Lesueur, Fabienne, Liljegren, Annelie, Lindor, Noralane M, Longy, Michel, Loud, Jennifer T, Lu, Karen H, Lubinski, Jan, Machackova, Eva, Manoukian, Siranoush, Mari, Véronique, Martínez-Bouzas, Cristina, Matrai, Zoltan, Mebirouk, Noura, Meijers-Heijboer, Hanne EJ, Meindl, Alfons, Mensenkamp, Arjen R, Mickys, Ugnius, Miller, Austin, Montagna, Marco, Moysich, Kirsten B, Mulligan, Anna Marie, Musinsky, Jacob, Neuhausen, Susan L, Nevanlinna, Heli, Ngeow, Joanne, Nguyen, Huu Phuc, Niederacher, Dieter, Nielsen, Henriette Roed, Nielsen, Finn Cilius, Nussbaum, Robert L, Offit, Kenneth, Öfverholm, Anna, Ong, Kai-Ren, Osorio, Ana, Papi, Laura, Papp, Janos, Pasini, Barbara, Pedersen, Inge Sokilde, Peixoto, Ana, Peruga, Nina, Peterlongo, Paolo, Pohl, Esther, Pradhan, Nisha, Prajzendanc, Karolina, Prieur, Fabienne, Pujol, Pascal, Radice, Paolo, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad Usman, Rhiem, Kerstin, Robson, Mark, Rodriguez, Gustavo C, Rogers, Mark T, Rudaitis, Vilius, Schmidt, Ane Y, Schmutzler, Rita Katharina, Senter, Leigha, Shah, Payal D, Sharma, Priyanka, Side, Lucy E, Simard, Jacques, Singer, Christian F, Skytte, Anne-Bine, Slavin, Thomas P, Snape, Katie, Sobol, Hagay, Southey, Melissa, Steele, Linda, Steinemann, Doris, Sukiennicki, Grzegorz, Sutter, Christian, Szabo, Csilla I, Tan, Yen Y, Teixeira, Manuel R, Terry, Mary Beth, Teulé, Alex, Thomas, Abigail, Thull, Darcy L, Tischkowitz, Marc, Tognazzo, Silvia, Toland, Amanda Ewart, Topka, Sabine, Trainer, Alison H, Tung, Nadine, Van Asperen, Christi J, Van Der Hout, Annemieke H, Van Der Kolk, Lizet E, Van Der Luijt, Rob B, Van Heetvelde, Mattias, Varesco, Liliana, Varon-Mateeva, Raymonda, Vega, Ana, Villarreal-Garza, Cynthia, Von Wachenfeldt, Anna, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Yoon, Sook-Yee, Zanzottera, Cristina, Zidan, Jamal, Zorn, Kristin K, Hutten Selkirk, Christina G, Hulick, Peter J, Chenevix-Trench, Georgia, Spurdle, Amanda B, Antoniou, Antonis C, and Nathanson, Katherine L

Subjects
BRCA2 Protein, Internationality, endocrine system diseases, Geography, BRCA1 Protein, BRCA1, BRCA2, 3. Good health, breast cancer, ovarian cancer, Databases, Genetic, Mutation, ethnicity, Humans, Family, skin and connective tissue diseases
Abstract

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

13. The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

Author

Laitman, Yael, Friebel, Tara M, Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Figlioli, Gisella, Bonanni, Bernardo, Manoukian, Siranoush, Zuradelli, Monica, Tondini, Carlo, Pasini, Barbara, Peterlongo, Paolo, Plaseska-Karanfilska, Dijana, Jakimovska, Milena, Majidzadeh, Keivan, Zarinfam, Shiva, Loizidou, Maria A, Hadjisavvas, Andreas, Michailidou, Kyriaki, Kyriacou, Kyriacos, Behar, Doron M, Molho, Rinat Bernstein, Ganz, Patricia, James, Paul, Parsons, Michael T, Sallam, Aminah, Olopade, Olufunmilayo I, Seth, Arun, Chenevix-Trench, Georgia, Leslie, Goska, McGuffog, Lesley, Marafie, Makia J, Megarbane, Andre, Al-Mulla, Fahd, Rebbeck, Timothy R, and Friedman, Eitan

Subjects
BRCA2 Protein, first pass genotyping, Genotype, BRCA1 BRCA2 mutational spectrum, BRCA1 Protein, Black People, Genetic Variation, underserved populations, North Africa, White People, 3. Good health, inherited breast cancer, Europe, Middle East, Africa, Northern, Population Groups, Research Design, Databases, Genetic, Data Mining, Humans, Genetic Predisposition to Disease, Alleles
Abstract

BRCA1 BRCA2 mutational spectrum in the Middle East, North Africa, and Southern Europe is not well characterized. The unique history and cultural practices characterizing these regions, often involving consanguinity and inbreeding, plausibly led to the accumulation of population-specific founder pathogenic sequence variants (PSVs). To determine recurring BRCA PSVs in these locales, a search in PUBMED, EMBASE, BIC, and CIMBA was carried out combined with outreach to researchers from the relevant countries for unpublished data. We identified 232 PSVs in BRCA1 and 239 in BRCA2 in 25 of 33 countries surveyed. Common PSVs that were detected in four or more countries were c.5266dup (p.Gln1756Profs), c.181T>G (p.Cys61Gly), c.68_69del (p.Glu23Valfs), c.5030_5033del (p.Thr1677Ilefs), c.4327C>T (p.Arg1443Ter), c.5251C>T (p.Arg1751Ter), c.1016dup (p.Val340Glyfs), c.3700_3704del (p.Val1234Glnfs), c.4065_4068del (p.Asn1355Lysfs), c.1504_1508del (p.Leu502Alafs), c.843_846del (p.Ser282Tyrfs), c.798_799del (p.Ser267Lysfs), and c.3607C>T (p.Arg1203Ter) in BRCA1 and c.2808_2811del (p.Ala938Profs), c.5722_5723del (p.Leu1908Argfs), c.9097dup (p.Thr3033Asnfs), c.1310_1313del (p. p.Lys437Ilefs), and c.5946del (p.Ser1982Argfs) for BRCA2. Notably, some mutations (e.g., p.Asn257Lysfs (c.771_775del)) were observed in unrelated populations. Thus, seemingly genotyping recurring BRCA PSVs in specific populations may provide first pass BRCA genotyping platform.

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