PMCC PMCC

Search tips
Search criteria

Advanced
Results 1-10 (10)
 

Clipboard (0)
None

Select a Filter Below

Journals
Year of Publication
1.  Large-scale genotyping identifies 41 new loci associated with breast cancer risk 
Michailidou, Kyriaki | Hall, Per | Gonzalez-Neira, Anna | Ghoussaini, Maya | Dennis, Joe | Milne, Roger L | Schmidt, Marjanka K | Chang-Claude, Jenny | Bojesen, Stig E | Bolla, Manjeet K | Wang, Qin | Dicks, Ed | Lee, Andrew | Turnbull, Clare | Rahman, Nazneen | Fletcher, Olivia | Peto, Julian | Gibson, Lorna | Silva, Isabel dos Santos | Nevanlinna, Heli | Muranen, Taru A | Aittomäki, Kristiina | Blomqvist, Carl | Czene, Kamila | Irwanto, Astrid | Liu, Jianjun | Waisfisz, Quinten | Meijers-Heijboer, Hanne | Adank, Muriel | van der Luijt, Rob B | Hein, Rebecca | Dahmen, Norbert | Beckman, Lars | Meindl, Alfons | Schmutzler, Rita K | Müller-Myhsok, Bertram | Lichtner, Peter | Hopper, John L | Southey, Melissa C | Makalic, Enes | Schmidt, Daniel F | Uitterlinden, Andre G | Hofman, Albert | Hunter, David J | Chanock, Stephen J | Vincent, Daniel | Bacot, François | Tessier, Daniel C | Canisius, Sander | Wessels, Lodewyk F A | Haiman, Christopher A | Shah, Mitul | Luben, Robert | Brown, Judith | Luccarini, Craig | Schoof, Nils | Humphreys, Keith | Li, Jingmei | Nordestgaard, Børge G | Nielsen, Sune F | Flyger, Henrik | Couch, Fergus J | Wang, Xianshu | Vachon, Celine | Stevens, Kristen N | Lambrechts, Diether | Moisse, Matthieu | Paridaens, Robert | Christiaens, Marie-Rose | Rudolph, Anja | Nickels, Stefan | Flesch-Janys, Dieter | Johnson, Nichola | Aitken, Zoe | Aaltonen, Kirsimari | Heikkinen, Tuomas | Broeks, Annegien | Van’t Veer, Laura J | van der Schoot, C Ellen | Guénel, Pascal | Truong, Thérèse | Laurent-Puig, Pierre | Menegaux, Florence | Marme, Frederik | Schneeweiss, Andreas | Sohn, Christof | Burwinkel, Barbara | Zamora, M Pilar | Perez, Jose Ignacio Arias | Pita, Guillermo | Alonso, M Rosario | Cox, Angela | Brock, Ian W | Cross, Simon S | Reed, Malcolm W R | Sawyer, Elinor J | Tomlinson, Ian | Kerin, Michael J | Miller, Nicola | Henderson, Brian E | Schumacher, Fredrick | Le Marchand, Loic | Andrulis, Irene L | Knight, Julia A | Glendon, Gord | Mulligan, Anna Marie | Lindblom, Annika | Margolin, Sara | Hooning, Maartje J | Hollestelle, Antoinette | van den Ouweland, Ans M W | Jager, Agnes | Bui, Quang M | Stone, Jennifer | Dite, Gillian S | Apicella, Carmel | Tsimiklis, Helen | Giles, Graham G | Severi, Gianluca | Baglietto, Laura | Fasching, Peter A | Haeberle, Lothar | Ekici, Arif B | Beckmann, Matthias W | Brenner, Hermann | Müller, Heiko | Arndt, Volker | Stegmaier, Christa | Swerdlow, Anthony | Ashworth, Alan | Orr, Nick | Jones, Michael | Figueroa, Jonine | Lissowska, Jolanta | Brinton, Louise | Goldberg, Mark S | Labrèche, France | Dumont, Martine | Winqvist, Robert | Pylkäs, Katri | Jukkola-Vuorinen, Arja | Grip, Mervi | Brauch, Hiltrud | Hamann, Ute | Brüning, Thomas | Radice, Paolo | Peterlongo, Paolo | Manoukian, Siranoush | Bonanni, Bernardo | Devilee, Peter | Tollenaar, Rob A E M | Seynaeve, Caroline | van Asperen, Christi J | Jakubowska, Anna | Lubinski, Jan | Jaworska, Katarzyna | Durda, Katarzyna | Mannermaa, Arto | Kataja, Vesa | Kosma, Veli-Matti | Hartikainen, Jaana M | Bogdanova, Natalia V | Antonenkova, Natalia N | Dörk, Thilo | Kristensen, Vessela N | Anton-Culver, Hoda | Slager, Susan | Toland, Amanda E | Edge, Stephen | Fostira, Florentia | Kang, Daehee | Yoo, Keun-Young | Noh, Dong-Young | Matsuo, Keitaro | Ito, Hidemi | Iwata, Hiroji | Sueta, Aiko | Wu, Anna H | Tseng, Chiu-Chen | Van Den Berg, David | Stram, Daniel O | Shu, Xiao-Ou | Lu, Wei | Gao, Yu-Tang | Cai, Hui | Teo, Soo Hwang | Yip, Cheng Har | Phuah, Sze Yee | Cornes, Belinda K | Hartman, Mikael | Miao, Hui | Lim, Wei Yen | Sng, Jen-Hwei | Muir, Kenneth | Lophatananon, Artitaya | Stewart-Brown, Sarah | Siriwanarangsan, Pornthep | Shen, Chen-Yang | Hsiung, Chia-Ni | Wu, Pei-Ei | Ding, Shian-Ling | Sangrajrang, Suleeporn | Gaborieau, Valerie | Brennan, Paul | McKay, James | Blot, William J | Signorello, Lisa B | Cai, Qiuyin | Zheng, Wei | Deming-Halverson, Sandra | Shrubsole, Martha | Long, Jirong | Simard, Jacques | Garcia-Closas, Montse | Pharoah, Paul D P | Chenevix-Trench, Georgia | Dunning, Alison M | Benitez, Javier | Easton, Douglas F
Nature genetics  2013;45(4):353-361e2.
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10−8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.
doi:10.1038/ng.2563
PMCID: PMC3771688  PMID: 23535729
2.  A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype 
Case Reports in Genetics  2014;2014:875029.
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.
doi:10.1155/2014/875029
PMCID: PMC3934306  PMID: 24660075
3.  Hereditary Breast Cancer: The Era of New Susceptibility Genes 
BioMed Research International  2013;2013:747318.
Breast cancer is the most common malignancy among females. 5%–10% of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story. These new findings include rare germline mutations in other high penetrant genes, the most important of which include TP53 mutations in Li-Fraumeni syndrome, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome. Furthermore, more frequent, but less penetrant, mutations have been identified in families with breast cancer clustering, in moderate or low penetrant genes, such as CHEK2, ATM, PALB2, and BRIP1. This paper will summarize all current data on new findings in breast cancer susceptibility genes.
doi:10.1155/2013/747318
PMCID: PMC3618918  PMID: 23586058
4.  Prevalence of BRCA1 Mutations in Familial and Sporadic Greek Ovarian Cancer Cases 
PLoS ONE  2013;8(3):e58182.
Germline mutations in the BRCA1 and BRCA2 genes contribute to approximately 18% of hereditary ovarian cancers conferring an estimated lifetime risk from 15% to 50%. A variable incidence of mutations has been reported for these genes in ovarian cancer cases from different populations. In Greece, six mutations in BRCA1 account for 63% of all mutations detected in both BRCA1 and BRCA2 genes. This study aimed to determine the prevalence of BRCA1 mutations in a Greek cohort of 106 familial ovarian cancer patients that had strong family history or metachronous breast cancer and 592 sporadic ovarian cancer cases. All 698 patients were screened for the six recurrent Greek mutations (including founder mutations c.5266dupC, p.G1738R and the three large deletions of exon 20, exons 23–24 and exon 24). In familial cases, the BRCA1 gene was consequently screened for exons 5, 11, 12, 20, 21, 22, 23, 24. A deleterious BRCA1 mutation was found in 43/106 (40.6%) of familial cancer cases and in 27/592 (4.6%) of sporadic cases. The variant of unknown clinical significance p.V1833M was identified in 9/698 patients (1.3%). The majority of BRCA1 carriers (71.2%) presented a high-grade serous phenotype. Identifying a mutation in the BRCA1 gene among breast and/or ovarian cancer families is important, as it enables carriers to take preventive measures. All ovarian cancer patients with a serous phenotype should be considered for genetic testing. Further studies are warranted to determine the prevalence of mutations in the rest of the BRCA1 gene, in the BRCA2 gene, and other novel predisposing genes for breast and ovarian cancer.
doi:10.1371/journal.pone.0058182
PMCID: PMC3594241  PMID: 23536787
5.  A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer 
Haiman, Christopher A | Chen, Gary K | Vachon, Celine M | Canzian, Federico | Dunning, Alison | Millikan, Robert C | Wang, Xianshu | Ademuyiwa, Foluso | Ahmed, Shahana | Ambrosone, Christine B | Baglietto, Laura | Balleine, Rosemary | Bandera, Elisa V | Beckmann, Matthias W | Berg, Christine D | Bernstein, Leslie | Blomqvist, Carl | Blot, William J | Brauch, Hiltrud | Buring, Julie E | Carey, Lisa A | Carpenter, Jane E | Chang-Claude, Jenny | Chanock, Stephen J | Chasman, Daniel I | Clarke, Christine L | Cox, Angela | Cross, Simon S | Deming, Sandra L | Diasio, Robert B | Dimopoulos, Athanasios M | Driver, W Ryan | Dünnebier, Thomas | Durcan, Lorraine | Eccles, Diana | Edlund, Christopher K | Ekici, Arif B | Fasching, Peter A | Feigelson, Heather S | Flesch-Janys, Dieter | Fostira, Florentia | Försti, Asta | Fountzilas, George | Gerty, Susan M | Giles, Graham G | Godwin, Andrew K | Goodfellow, Paul | Graham, Nikki | Greco, Dario | Hamann, Ute | Hankinson, Susan E | Hartmann, Arndt | Hein, Rebecca | Heinz, Judith | Holbrook, Andrea | Hoover, Robert N | Hu, Jennifer J | Hunter, David J | Ingles, Sue A | Irwanto, Astrid | Ivanovich, Jennifer | John, Esther M | Johnson, Nicola | Jukkola-Vuorinen, Arja | Kaaks, Rudolf | Ko, Yon-Dschun | Kolonel, Laurence N | Konstantopoulou, Irene | Kosma, Veli-Matti | Kulkarni, Swati | Lambrechts, Diether | Lee, Adam M | Le Marchand, Loïc | Lesnick, Timothy | Liu, Jianjun | Lindstrom, Sara | Mannermaa, Arto | Margolin, Sara | Martin, Nicholas G | Miron, Penelope | Montgomery, Grant W | Nevanlinna, Heli | Nickels, Stephan | Nyante, Sarah | Olswold, Curtis | Palmer, Julie | Pathak, Harsh | Pectasides, Dimitrios | Perou, Charles M | Peto, Julian | Pharoah, Paul D P | Pooler, Loreall C | Press, Michael F | Pylkäs, Katri | Rebbeck, Timothy R | Rodriguez-Gil, Jorge L | Rosenberg, Lynn | Ross, Eric | Rüdiger, Thomas | Silva, Isabel dos Santos | Sawyer, Elinor | Schmidt, Marjanka K | Schulz-Wendtland, Rüdiger | Schumacher, Fredrick | Severi, Gianluca | Sheng, Xin | Signorello, Lisa B | Sinn, Hans-Peter | Stevens, Kristen N | Southey, Melissa C | Tapper, William J | Tomlinson, Ian | Hogervorst, Frans B L | Wauters, Els | Weaver, JoEllen | Wildiers, Hans | Winqvist, Robert | Van Den Berg, David | Wan, Peggy | Xia, Lucy Y | Yannoukakos, Drakoulis | Zheng, Wei | Ziegler, Regina G | Siddiq, Afshan | Slager, Susan L | Stram, Daniel O | Easton, Douglas | Kraft, Peter | Henderson, Brian E | Couch, Fergus J
Nature Genetics  2011;43(12):1210-1214.
Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10−10). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 × 10−9), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10−9). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
doi:10.1038/ng.985
PMCID: PMC3279120  PMID: 22037553
6.  Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers 
Antoniou, Antonis C | Kartsonaki, Christiana | Sinilnikova, Olga M. | Soucy, Penny | McGuffog, Lesley | Healey, Sue | Lee, Andrew | Peterlongo, Paolo | Manoukian, Siranoush | Peissel, Bernard | Zaffaroni, Daniela | Cattaneo, Elisa | Barile, Monica | Pensotti, Valeria | Pasini, Barbara | Dolcetti, Riccardo | Giannini, Giuseppe | Laura Putignano, Anna | Varesco, Liliana | Radice, Paolo | Mai, Phuong L. | Greene, Mark H. | Andrulis, Irene L. | Glendon, Gord | Ozcelik, Hilmi | Thomassen, Mads | Gerdes, Anne-Marie | Kruse, Torben A. | Birk Jensen, Uffe | Crüger, Dorthe G. | Caligo, Maria A. | Laitman, Yael | Milgrom, Roni | Kaufman, Bella | Paluch-Shimon, Shani | Friedman, Eitan | Loman, Niklas | Harbst, Katja | Lindblom, Annika | Arver, Brita | Ehrencrona, Hans | Melin, Beatrice | Nathanson, Katherine L. | Domchek, Susan M. | Rebbeck, Timothy | Jakubowska, Ania | Lubinski, Jan | Gronwald, Jacek | Huzarski, Tomasz | Byrski, Tomasz | Cybulski, Cezary | Gorski, Bohdan | Osorio, Ana | Ramón y Cajal, Teresa | Fostira, Florentia | Andrés, Raquel | Benitez, Javier | Hamann, Ute | Hogervorst, Frans B. | Rookus, Matti A. | Hooning, Maartje J. | Nelen, Marcel R. | van der Luijt, Rob B. | van Os, Theo A.M. | van Asperen, Christi J. | Devilee, Peter | Meijers-Heijboer, Hanne E.J. | Gómez Garcia, Encarna B. | Peock, Susan | Cook, Margaret | Frost, Debra | Platte, Radka | Leyland, Jean | Gareth Evans, D. | Lalloo, Fiona | Eeles, Ros | Izatt, Louise | Adlard, Julian | Davidson, Rosemarie | Eccles, Diana | Ong, Kai-ren | Cook, Jackie | Douglas, Fiona | Paterson, Joan | John Kennedy, M. | Miedzybrodzka, Zosia | Godwin, Andrew | Stoppa-Lyonnet, Dominique | Buecher, Bruno | Belotti, Muriel | Tirapo, Carole | Mazoyer, Sylvie | Barjhoux, Laure | Lasset, Christine | Leroux, Dominique | Faivre, Laurence | Bronner, Myriam | Prieur, Fabienne | Nogues, Catherine | Rouleau, Etienne | Pujol, Pascal | Coupier, Isabelle | Frénay, Marc | Hopper, John L. | Daly, Mary B. | Terry, Mary B. | John, Esther M. | Buys, Saundra S. | Yassin, Yosuf | Miron, Alexander | Goldgar, David | Singer, Christian F. | Tea, Muy-Kheng | Pfeiler, Georg | Catharina Dressler, Anne | Hansen, Thomas v.O. | Jønson, Lars | Ejlertsen, Bent | Bjork Barkardottir, Rosa | Kirchhoff, Tomas | Offit, Kenneth | Piedmonte, Marion | Rodriguez, Gustavo | Small, Laurie | Boggess, John | Blank, Stephanie | Basil, Jack | Azodi, Masoud | Ewart Toland, Amanda | Montagna, Marco | Tognazzo, Silvia | Agata, Simona | Imyanitov, Evgeny | Janavicius, Ramunas | Lazaro, Conxi | Blanco, Ignacio | Pharoah, Paul D.P. | Sucheston, Lara | Karlan, Beth Y. | Walsh, Christine S. | Olah, Edith | Bozsik, Aniko | Teo, Soo-Hwang | Seldon, Joyce L. | Beattie, Mary S. | van Rensburg, Elizabeth J. | Sluiter, Michelle D. | Diez, Orland | Schmutzler, Rita K. | Wappenschmidt, Barbara | Engel, Christoph | Meindl, Alfons | Ruehl, Ina | Varon-Mateeva, Raymonda | Kast, Karin | Deissler, Helmut | Niederacher, Dieter | Arnold, Norbert | Gadzicki, Dorothea | Schönbuchner, Ines | Caldes, Trinidad | de la Hoya, Miguel | Nevanlinna, Heli | Aittomäki, Kristiina | Dumont, Martine | Chiquette, Jocelyne | Tischkowitz, Marc | Chen, Xiaoqing | Beesley, Jonathan | Spurdle, Amanda B. | Neuhausen, Susan L. | Chun Ding, Yuan | Fredericksen, Zachary | Wang, Xianshu | Pankratz, Vernon S. | Couch, Fergus | Simard, Jacques | Easton, Douglas F. | Chenevix-Trench, Georgia
Human Molecular Genetics  2011;20(16):3304-3321.
Two single nucleotide polymorphisms (SNPs) at 6q25.1, near the ESR1 gene, have been implicated in the susceptibility to breast cancer for Asian (rs2046210) and European women (rs9397435). A genome-wide association study in Europeans identified two further breast cancer susceptibility variants: rs11249433 at 1p11.2 and rs999737 in RAD51L1 at 14q24.1. Although previously identified breast cancer susceptibility variants have been shown to be associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers, the involvement of these SNPs to breast cancer susceptibility in mutation carriers is currently unknown. To address this, we genotyped these SNPs in BRCA1 and BRCA2 mutation carriers from 42 studies from the Consortium of Investigators of Modifiers of BRCA1/2. In the analysis of 14 123 BRCA1 and 8053 BRCA2 mutation carriers of European ancestry, the 6q25.1 SNPs (r2 = 0.14) were independently associated with the risk of breast cancer for BRCA1 mutation carriers [hazard ratio (HR) = 1.17, 95% confidence interval (CI): 1.11–1.23, P-trend = 4.5 × 10−9 for rs2046210; HR = 1.28, 95% CI: 1.18–1.40, P-trend = 1.3 × 10−8 for rs9397435], but only rs9397435 was associated with the risk for BRCA2 carriers (HR = 1.14, 95% CI: 1.01–1.28, P-trend = 0.031). SNP rs11249433 (1p11.2) was associated with the risk of breast cancer for BRCA2 mutation carriers (HR = 1.09, 95% CI: 1.02–1.17, P-trend = 0.015), but was not associated with breast cancer risk for BRCA1 mutation carriers (HR = 0.97, 95% CI: 0.92–1.02, P-trend = 0.20). SNP rs999737 (RAD51L1) was not associated with breast cancer risk for either BRCA1 or BRCA2 mutation carriers (P-trend = 0.27 and 0.30, respectively). The identification of SNPs at 6q25.1 associated with breast cancer risk for BRCA1 mutation carriers will lead to a better understanding of the biology of tumour development in these women.
doi:10.1093/hmg/ddr226
PMCID: PMC3652640  PMID: 21593217
7.  Common breast cancer susceptibility loci are associated with triple negative breast cancer 
Stevens, Kristen N. | Vachon, Celine M. | Lee, Adam M. | Slager, Susan | Lesnick, Timothy | Olswold, Curtis | Fasching, Peter A. | Miron, Penelope | Eccles, Diana | Carpenter, Jane E. | Godwin, Andrew K. | Ambrosone, Christine | Winqvist, Robert | Schmidt, Marjanka K. | Cox, Angela | Cross, Simon S. | Sawyer, Elinor | Hartmann, Arndt | Beckmann, Matthias W. | Schulz-Wendtland, Rüdiger | Ekici, Arif B. | Tapper, William J | Gerty, Susan M | Durcan, Lorraine | Graham, Nikki | Hein, Rebecca | Nickels, Stephan | Flesch-Janys, Dieter | Heinz, Judith | Sinn, Hans-Peter | Konstantopoulou, Irene | Fostira, Florentia | Pectasides, Dimitrios | Dimopoulos, Athanasios M. | Fountzilas, George | Clarke, Christine L. | Balleine, Rosemary | Olson, Janet E. | Fredericksen, Zachary | Diasio, Robert B. | Pathak, Harsh | Ross, Eric | Weaver, JoEllen | Rüdiger, Thomas | Försti, Asta | Dünnebier, Thomas | Ademuyiwa, Foluso | Kulkarni, Swati | Pylkäs, Katri | Jukkola-Vuorinen, Arja | Ko, Yon-Dschun | Van Limbergen, Erik | Janssen, Hilde | Peto, Julian | Fletcher, Olivia | Giles, Graham G. | Baglietto, Laura | Verhoef, Senno | Tomlinson, Ian | Kosma, Veli-Matti | Beesley, Jonathan | Greco, Dario | Blomqvist, Carl | Irwanto, Astrid | Liu, Jianjun | Blows, Fiona M. | Dawson, Sarah-Jane | Margolin, Sara | Mannermaa, Arto | Martin, Nicholas G. | Montgomery, Grant W | Lambrechts, Diether | dos Santos Silva, Isabel | Severi, Gianluca | Hamann, Ute | Pharoah, Paul | Easton, Douglas F. | Chang-Claude, Jenny | Yannoukakos, Drakoulis | Nevanlinna, Heli | Wang, Xianshu | Couch, Fergus J.
Cancer Research  2011;71(19):6240-6249.
Triple negative breast cancers are an aggressive subtype of breast cancer with poor survival, but there remains little known about the etiological factors which promote its initiation and development. Commonly inherited breast cancer risk factors identified through genome wide association studies (GWAS) display heterogeneity of effect among breast cancer subtypes as defined by estrogen receptor (ER) and progesterone receptor (PR) status. In the Triple Negative Breast Cancer Consortium (TNBCC), 22 common breast cancer susceptibility variants were investigated in 2,980 Caucasian women with triple negative breast cancer and 4,978 healthy controls. We identified six single nucleotide polymorphisms (SNPs) significantly associated with risk of triple negative breast cancer, including rs2046210 (ESR1), rs12662670 (ESR1), rs3803662 (TOX3), rs999737 (RAD51L1), rs8170 (19p13.11) and rs8100241 (19p13.11). Together, our results provide convincing evidence of genetic susceptibility for triple negative breast cancer.
doi:10.1158/0008-5472.CAN-11-1266
PMCID: PMC3327299  PMID: 21844186
genetic susceptibility; neoplasms; association study; subtypes; common variant
8.  Candida albicans HWP1 gene expression and host antibody responses in colonization and disease 
Journal of medical microbiology  2006;55(Pt 10):1323-1327.
In vivo expression of the developmentally regulated Candida albicans hyphal wall protein 1 (HWP1) gene was analysed in human subjects who were culture positive for C. albicans and had oral symptoms (n=40) or were asymptomatic (n=29), or had vaginal symptoms (n=40) or were asymptomatic (n=29). HWP1 mRNA was present regardless of symptoms, implicating hyphal and possibly pseudohyphal forms in mucosal carriage as well as disease. As expected, in control subjects without oral symptoms (n=10) and without vaginal symptoms (n=10) who were culture negative in oral and vaginal samples, HWP1 mRNA was not detected. However, exposure to Hwp1 in healthy culture-negative controls, as well as in oral candidiasis and asymptomatic mucosal infections, was shown by the existence of local salivary and systemic adaptive antibody responses to Hwp1. The results are consistent with a role for Hwp1 in gastrointestinal colonization as well as in mucosal symptomatic and asymptomatic infections. Overall, Hwp1 and hyphal growth forms appear to be important factors in benign and invasive interactions of C. albicans with human hosts.
doi:10.1099/jmm.0.46737-0
PMCID: PMC3244616  PMID: 17005778
9.  Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families 
BMC Cancer  2010;10:544.
Background
Germline mutations in the DNA mismatch repair genes predispose to Lynch syndrome, thus conferring a high relative risk of colorectal and endometrial cancer. The MLH1, MSH2 and MSH6 mutational spectrum reported so far involves minor alterations scattered throughout their coding regions as well as large genomic rearrangements. Therefore, a combination of complete sequencing and a specialized technique for the detection of genomic rearrangements should be conducted during a proper DNA-testing procedure. Our main goal was to successfully identify Lynch syndrome families and determine the spectrum of MLH1, MSH2 and MSH6 mutations in Greek Lynch families in order to develop an efficient screening protocol for the Greek colorectal cancer patients' cohort.
Methods
Forty-two samples from twenty-four families, out of which twenty two of Greek, one of Cypriot and one of Serbian origin, were screened for the presence of germline mutations in the major mismatch repair genes through direct sequencing and MLPA. Families were selected upon Amsterdam criteria or revised Bethesda guidelines.
Results
Ten deleterious alterations were detected in twelve out of the twenty-four families subjected to genetic testing, thus our detection rate is 50%. Four of the pathogenic point mutations, namely two nonsense, one missense and one splice site change, are novel, whereas the detected genomic deletion encompassing exon 6 of the MLH1 gene has been described repeatedly in the LOVD database. The average age of onset for the development of both colorectal and endometrial cancer among mutation positive families is 43.2 years.
Conclusion
The mutational spectrum of the MMR genes investigated as it has been shaped by our analysis is quite heterogeneous without any strong indication for the presence of a founder effect.
doi:10.1186/1471-2407-10-544
PMCID: PMC2976752  PMID: 20937110
10.  Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients 
BMC Cancer  2010;10:389.
Background
Familial adenomatous polyposis, an autosomal dominant inherited disease caused by germline mutations within the APC gene, is characterized by early onset colorectal cancer as a consequence of the intrinsic phenotypic feature of multiple colorectal adenomatic polyps. The genetic investigation of Greek adenomatous polyposis families was performed in respects to APC and MUTYH germline mutations. Additionally, all available published mutations were considered in order to define the APC mutation spectrum in Greece.
Methods
A cohort of 25 unrelated adenomatous polyposis families of Greek origin has been selected. Genetic testing included direct sequencing of APC and MUTYH genes. APC gene was also checked for large genomic rearrangements by MLPA.
Results
Analysis of the APC gene performed in a Greek cohort of twenty five FAP families revealed eighteen different germline mutations in twenty families (80%), four of which novel. Mutations were scattered between exon 3 and codon 1503 of exon 15, while no large genomic rearrangements were identified.
Conclusion
This concise report describes the spectrum of all APC mutations identified in Greek FAP families, including four novel mutations. It is concluded that the Greek population is characterized by genetic heterogeneity, low incidence of genomic rearrangements in APC gene and lack of founder mutation in FAP syndrome.
doi:10.1186/1471-2407-10-389
PMCID: PMC2918579  PMID: 20649969

Results 1-10 (10)