Filter and export

Publications

159 Publications visible to you, out of a total of 159
BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

In families with clustering of breast and ovarian cancer, molecular testing of the major susceptibility genes BRCA1/2 helps to identify patients with disease mutations and healthy persons at high risk … who can participate in targeted intervention programs. We investigated 5559 families from the German Consortium for Hereditary Breast and Ovarian Cancer included between 1997 and 2008 and treated under clinical routine conditions. In each family an index patient/person had been screened for deleterious mutations in BRCA1/2. Healthy relatives agreed to predictive testing in 888 of 1520 BRCA1/2 mutation-positive families (58%). Of 2646 eligible unaffected first-degree relatives 1143 decided to be tested (43%). In 325 families with BRCA1/2-positive index patients one related BC/OC patient was tested and 39 (12.0%; 95% confidence interval: 8.7-16.0%) discrepant cases found. A second related individual was screened in 163 of 3388 (4.9%) families with BRCA1/2-negative index patient and in eight families a BRCA1/2 mutation was found. In BRCA1/2 mutation-positive families, BC/OC patients lacking the familial mutation have to be expected at a rather high rate. In families with BRCA1/2-negative index patient we recommend a second screening if another patient with a high probability of carrying a BRCA1/2 mutation is available.

Authors: C. Fischer, C. Engel, C. Sutter, S. Zachariae, R. Schmutzler, A. Meindl, S. Heidemann, T. Grimm, T. O. Goecke, I. Debatin, D. Horn, P. Wieacker, D. Gadzicki, K. Becker, D. Schäfer, F. Stock, T. Voigtländer

Date Published: 1st Nov 2012

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counselling of individuals carrying …g these variants. We previously showed that variant BRCA1 c.5096G\textgreaterA p.Arg1699Gln in the BRCA1 transcriptional transactivation domain demonstrated equivocal results from a series of functional assays, and proposed that this variant may confer low to moderate risk of cancer. METHODS Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G\textgreaterA p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C\textgreaterT p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). RESULTS Comparison of BRCA1 carrier prediction scores of probands using the BOADICEA risk prediction tool revealed that BRCA1 c.5096G\textgreaterA p.Arg1699Gln variant carriers had family histories that were less ’BRCA1-like’ than BRCA1 c.5095C\textgreaterT p.Arg1699Trp mutation carriers (p\textless0.00001), but more ’BRCA1-like’ than BRCA-X families (p=0.0004). Further, modified segregation analysis of the subset of 30 families with additional genotyping showed that BRCA1 c.5096G \textgreaterA p.Arg1699Gln had reduced penetrance compared with the average truncating BRCA1 mutation penetrance (p=0.0002), with estimated cumulative risks to age 70 of breast or ovarian cancer of 24%. CONCLUSIONS Our results provide substantial evidence that the BRCA1 c.5096G\textgreaterA p.Arg1699Gln (R1699Q) variant, demonstrating ambiguous functional deficiency across multiple assays, is associated with intermediate risk of breast and ovarian cancer, highlighting challenges for risk modelling and clinical management of patients of this and other potential moderate-risk variants.

Authors: Amanda B. Spurdle, Phillip J. Whiley, Bryony Thompson, Bingjian Feng, Sue Healey, Melissa A. Brown, Christopher Pettigrew, Christi J. van Asperen, Margreet G. E. M. Ausems, Anna A. Kattentidt-Mouravieva, Ans M. W. van den Ouweland, Annika Lindblom, Maritta H. Pigg, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Sandrine Caputo, Olga M. Sinilnikova, Rosette Lidereau, Fergus J. Couch, Lucia Guidugli, Thomas Overeem van Hansen, Mads Thomassen, Diana M. Eccles, Kathy Tucker, Javier Benitez, Susan M. Domchek, Amanda E. Toland, Elizabeth J. van Rensburg, Barbara Wappenschmidt, Åke Borg, Maaike P. G. Vreeswijk, David E. Goldgar

Date Published: 12th Aug 2012

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Double heterozygosity for disease-causing BRCA1 and BRCA2 mutations is a very rare condition in most populations. Here we describe genetic and clinical data of eight female double heterozygotes (DH) … for BRCA1 and BRCA2 mutations found in a cohort of 8162 German breast/ovarian cancer families and compare it with the data of their single heterozygous relatives and of the index patients of the German Consortium for Hereditary Breast and Ovarian Cancer. Furthermore, we analyze the phenotypic features of these patients with respect to age at onset of first cancer, first breast/ovarian cancer and the number of disease manifestations and compare them to that of published Caucasian female DHs and their single heterozygous female relatives. German DHs were not significantly younger at diagnosis of first breast cancer than the single heterozygous index patients of the German Consortium. However, if the data of our study were pooled with that of the literature, DHs were substantially younger at onset of first cancer (mean age 40.4 years, 95 % CI = 36.6-44.1) than their single heterozygous female relatives (mean age 51.9 years, 95 % CI = 46.8-57.0). The two groups also differed concerning the onset of first breast cancer (mean age 40.6 years, 95 % CI = 36.6-44.5 vs. 52.6, 95 % CI = 47.5-57.6). In addition, DHs had a more severe disease than their female relatives carrying a single BRCA mutation (1.4 vs. 0.6 manifestations per person). In contrast to Ashkenazi Jewish females, Caucasian DH females might develop breast cancer at an earlier age and have a more severe disease than single heterozygous BRCA mutation carriers. Therefore, DHs may benefit from more intensive surveillance programs/follow-up care and prophylactic surgery.

Authors: Simone Heidemann, Christine Fischer, Christoph Engel, Barbara Fischer, Lana Harder, Brigitte Schlegelberger, Dieter Niederacher, Timm O. Goecke, Sandra C. Doelken, Nicola Dikow, Walter Jonat, Susanne Morlot, Rita C. Schmutzler, Norbert K. Arnold

Date Published: 1st Aug 2012

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Effect of empirical treatment with moxifloxacin and meropenem vs meropenem on sepsis-related organ dysfunction in patients with severe sepsis: a randomized trial.
SepNet - German Competence Network Sepsis

Abstract (Expand)

CONTEXT: Early appropriate antimicrobial therapy leads to lower mortality rates associated with severe sepsis. The role of empirical combination therapy comprising at least 2 antibiotics of different … mechanisms remains controversial. OBJECTIVE: To compare the effect of moxifloxacin and meropenem with the effect of meropenem alone on sepsis-related organ dysfunction. DESIGN, SETTING, AND PATIENTS: A randomized, open-label, parallel-group trial of 600 patients who fulfilled criteria for severe sepsis or septic shock (n = 298 for monotherapy and n = 302 for combination therapy). The trial was performed at 44 intensive care units in Germany from October 16, 2007, to March 23, 2010. The number of evaluable patients was 273 in the monotherapy group and 278 in the combination therapy group. INTERVENTIONS: Intravenous meropenem (1 g every 8 hours) and moxifloxacin (400 mg every 24 hours) or meropenem alone. The intervention was recommended for 7 days and up to a maximum of 14 days after randomization or until discharge from the intensive care unit or death, whichever occurred first. MAIN OUTCOME MEASURE: Degree of organ failure (mean of daily total Sequential Organ Failure Assessment [SOFA] scores over 14 days; score range: 0-24 points with higher scores indicating worse organ failure); secondary outcome: 28-day and 90-day all-cause mortality. Survivors were followed up for 90 days. RESULTS: Among 551 evaluable patients, there was no statistically significant difference in mean SOFA score between the meropenem and moxifloxacin group (8.3 points; 95% CI, 7.8-8.8 points) and the meropenem alone group (7.9 points; 95% CI, 7.5-8.4 points) (P = .36). The rates for 28-day and 90-day mortality also were not statistically significantly different. By day 28, there were 66 deaths (23.9%; 95% CI, 19.0%-29.4%) in the combination therapy group compared with 59 deaths (21.9%; 95% CI, 17.1%-27.4%) in the monotherapy group (P = .58). By day 90, there were 96 deaths (35.3%; 95% CI, 29.6%-41.3%) in the combination therapy group compared with 84 deaths (32.1%; 95% CI, 26.5%-38.1%) in the monotherapy group (P = .43). CONCLUSION: Among adult patients with severe sepsis, treatment with combined meropenem and moxifloxacin compared with meropenem alone did not result in less organ failure. TRIAL REGISTRATION: clinicaltrials.gov Identifier: NCT00534287.

Authors: F. M. Brunkhorst, M. Oppert, G. Marx, F. Bloos, K. Ludewig, C. Putensen, A. Nierhaus, U. Jaschinski, A. Meier-Hellmann, A. Weyland, M. Grundling, O. Moerer, R. Riessen, A. Seibel, M. Ragaller, M. W. Buchler, S. John, F. Bach, C. Spies, L. Reill, H. Fritz, M. Kiehntopf, E. Kuhnt, H. Bogatsch, C. Engel, M. Loeffler, M. H. Kollef, K. Reinhart, T. Welte

Date Published: 13th Jun 2012

Publication Type: Not specified

Human Diseases: bacterial infectious disease

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian … cancer for women in the general population. We evaluated four of these loci as potential modifiers of ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Four single-nucleotide polymorphisms (SNPs), rs10088218 (at 8q24), rs2665390 (at 3q25), rs717852 (at 2q31), and rs9303542 (at 17q21), were genotyped in 12,599 BRCA1 and 7,132 BRCA2 carriers, including 2,678 ovarian cancer cases. Associations were evaluated within a retrospective cohort approach. All four loci were associated with ovarian cancer risk in BRCA2 carriers; rs10088218 per-allele hazard ratio (HR) = 0.81 (95% CI: 0.67-0.98) P-trend = 0.033, rs2665390 HR = 1.48 (95% CI: 1.21-1.83) P-trend = 1.8 \times 10(-4), rs717852 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.6 \times 10(-4), rs9303542 HR = 1.16 (95% CI: 1.02-1.33) P-trend = 0.026. Two loci were associated with ovarian cancer risk in BRCA1 carriers; rs10088218 per-allele HR = 0.89 (95% CI: 0.81-0.99) P-trend = 0.029, rs2665390 HR = 1.25 (95% CI: 1.10-1.42) P-trend = 6.1 \times 10(-4). The HR estimates for the remaining loci were consistent with odds ratio estimates for the general population. The identification of multiple loci modifying ovarian cancer risk may be useful for counseling women with BRCA1 and BRCA2 mutations regarding their risk of ovarian cancer.

Authors: Susan J. Ramus, Antonis C. Antoniou, Karoline B. Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Lesley McGuffog, Olga M. Sinilnikova, Sue Healey, Daniel Barrowdale, Andrew Lee, Mads Thomassen, Anne-Marie Gerdes, Torben A. Kruse, Uffe Birk Jensen, Anne-Bine Skytte, Maria A. Caligo, Annelie Liljegren, Annika Lindblom, Håkan Olsson, Ulf Kristoffersson, Marie Stenmark-Askmalm, Beatrice Melin, Susan M. Domchek, Katherine L. Nathanson, Timothy R. Rebbeck, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Jacek Gronwald, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Ana Osorio, Javier Benitez, Mercedes Duran, Maria-Isabel Tejada, Ute Hamann, Matti Rookus, Flora E. van Leeuwen, Cora M. Aalfs, Hanne E. J. Meijers-Heijboer, Christi J. van Asperen, K. E. P. van Roozendaal, Nicoline Hoogerbrugge, J. Margriet Collée, Mieke Kriege, Rob B. van der Luijt, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Fiona Lalloo, Chris Jacobs, Ros Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Fiona Douglas, Carole Brewer, Shirley Hodgson, Patrick J. Morrison, Lisa Walker, Mary E. Porteous, M. John Kennedy, Harsh Pathak, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Virginie Caux-Moncoutier, Antoine de Pauw, Marion Gauthier-Villars, Sylvie Mazoyer, Mélanie Léoné, Alain Calender, Christine Lasset, Valérie Bonadona, Agnès Hardouin, Pascaline Berthet, Yves-Jean Bignon, Nancy Uhrhammer, Laurence Faivre, Catherine Loustalot, Saundra Buys, Mary Daly, Alex Miron, Mary Beth Terry, Wendy K. Chung, Esther M. John, Melissa Southey, David Goldgar, Christian F. Singer, Muy-Kheng Tea, Georg Pfeiler, Anneliese Fink-Retter, Thomas v. O. Hansen, Bent Ejlertsen, Oskar Th Johannsson, Kenneth Offit, Tomas Kirchhoff, Mia M. Gaudet, Joseph Vijai, Mark Robson, Marion Piedmonte, Kelly-Anne Phillips, Linda van Le, James S. Hoffman, Amanda Ewart Toland, Marco Montagna, Silvia Tognazzo, Evgeny Imyanitov, Claudine Issacs, Ramunas Janavicius, Conxi Lazaro, Iganacio Blanco, Eva Tornero, Matilde Navarro, Kirsten B. Moysich, Beth Y. Karlan, Jenny Gross, Edith Olah, Tibor Vaszko, Soo-Hwang Teo, Patricia A. Ganz, Mary S. Beattie, Cecelia M. Dorfling, Elizabeth J. van Rensburg, Orland Diez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorotehea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Dieter Schäfer, Trinidad Caldes, Miguel de La Hoya, Heli Nevanlinna, Kristiina Aittomäki, Marie Plante, Amanda B. Spurdle, Susan L. Neuhausen, Yuan Chun Ding, Xianshu Wang, Noralane Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Bernardo Bonanni, Loris Bernard, Riccardo Dolcetti, Laura Papi, Laura Ottini, Paolo Radice, Mark H. Greene, Phuong L. Mai, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, Paul D. P. Pharoah, Simon A. Gayther, Jacques Simard, Douglas F. Easton, Fergus J. Couch, Georgia Chenevix-Trench

Date Published: 1st Apr 2012

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

19p13.1 is a triple-negative-specific breast cancer susceptibility locus
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 … variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 \times 10(-5)] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 \times 10(-7)). However, rs8170 was no longer associated with ER-negative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P = 3.31 \times 10(-13)]. Thus, 19p13.1 is the first triple-negative-specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.

Authors: Kristen N. Stevens, Zachary Fredericksen, Celine M. Vachon, Xianshu Wang, Sara Margolin, Annika Lindblom, Heli Nevanlinna, Dario Greco, Kristiina Aittomäki, Carl Blomqvist, Jenny Chang-Claude, Alina Vrieling, Dieter Flesch-Janys, Hans-Peter Sinn, Shan Wang-Gohrke, Stefan Nickels, Hiltrud Brauch, Yon-Dschun Ko, Hans-Peter Fischer, Rita K. Schmutzler, Alfons Meindl, Claus R. Bartram, Sarah Schott, Christoph Engel, Andrew K. Godwin, JoEllen Weaver, Harsh B. Pathak, Priyanka Sharma, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Penelope Miron, Drakoulis Yannoukakos, Alexandra Stavropoulou, George Fountzilas, Helen J. Gogas, Ruth Swann, Miriam Dwek, Annie Perkins, Roger L. Milne, Javier Benítez, María Pilar Zamora, José Ignacio Arias Pérez, Stig E. Bojesen, Sune F. Nielsen, Børge G. Nordestgaard, Henrik Flyger, Pascal Guénel, Thérèse Truong, Florence Menegaux, Emilie Cordina-Duverger, Barbara Burwinkel, Frederick Marmé, Andreas Schneeweiss, Christof Sohn, Elinor Sawyer, Ian Tomlinson, Michael J. Kerin, Julian Peto, Nichola Johnson, Olivia Fletcher, Isabel Dos Santos Silva, Peter A. Fasching, Matthias W. Beckmann, Arndt Hartmann, Arif B. Ekici, Artitaya Lophatananon, Kenneth Muir, Puttisak Puttawibul, Surapon Wiangnon, Marjanka K. Schmidt, Annegien Broeks, Linde M. Braaf, Efraim H. Rosenberg, John L. Hopper, Carmel Apicella, Daniel J. Park, Melissa C. Southey, Anthony J. Swerdlow, Alan Ashworth, Nicholas Orr, Minouk J. Schoemaker, Hoda Anton-Culver, Argyrios Ziogas, Leslie Bernstein, Christina Clarke Dur, Chen-Yang Shen, Jyh-Cherng Yu, Huan-Ming Hsu, Chia-Ni Hsiung, Ute Hamann, Thomas Dünnebier, Thomas Rüdiger, Hans Ulrich Ulmer, Paul P. Pharoah, Alison M. Dunning, Manjeet K. Humphreys, Qin Wang, Angela Cox, Simon S. Cross, Malcom W. Reed, Per Hall, Kamila Czene, Christine B. Ambrosone, Foluso Ademuyiwa, Helena Hwang, Diana M. Eccles, Montserrat Garcia-Closas, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Peter Devilee, Caroline Seynaeve, Rob A. E. M. Tollenaar, Maartje J. Hooning, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Esther M. John, Alexander Miron, Grethe Grenaker Alnæs, Vessela Kristensen, Anne-Lise Børresen-Dale, Graham G. Giles, Laura Baglietto, Catriona A. McLean, Gianluca Severi, Matthew L. Kosel, V. S. Pankratz, Susan Slager, Janet E. Olson, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Diether Lambrechts, Sigrid Hatse, Anne-Sophie Dieudonne, Marie-Rose Christiaens, Georgia Chenevix-Trench, Jonathan Beesley, Xiaoqing Chen, Arto Mannermaa, Veli-Matti Kosma, Jaana M. Hartikainen, Ylermi Soini, Douglas F. Easton, Fergus J. Couch

Date Published: 1st Apr 2012

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
GC-HBOC - German Consortium for Hereditary Breast and Ovarian Cancer

Abstract (Expand)

BACKGROUND Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored …d associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). METHODS Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. RESULTS We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 \times 10(-4)] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers. We also found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 \times 10(-4)) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 \times 10(-3)). CONCLUSIONS 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. IMPACT These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.

Authors: Fergus J. Couch, Mia M. Gaudet, Antonis C. Antoniou, Susan J. Ramus, Karoline B. Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaoqing Chen, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Olga M. Sinilnikova, Irene L. Andrulis, Hilmi Ozcelik, Anna Marie Mulligan, Mads Thomassen, Anne-Marie Gerdes, Uffe Birk Jensen, Anne-Bine Skytte, Torben A. Kruse, Maria A. Caligo, Anna von Wachenfeldt, Gisela Barbany-Bustinza, Niklas Loman, Maria Soller, Hans Ehrencrona, Per Karlsson, Katherine L. Nathanson, Timothy R. Rebbeck, Susan M. Domchek, Ania Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Elzbieta Zlowocka, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Cezary Cybulski, Bohdan Górski, Ana Osorio, Mercedes Durán, María Isabel Tejada, Javier Benitez, Ute Hamann, Frans B. L. Hogervorst, Theo A. van Os, Flora E. van Leeuwen, Hanne E. J. Meijers-Heijboer, Juul Wijnen, Marinus J. Blok, Marleen Kets, Maartje J. Hooning, Rogier A. Oldenburg, Margreet G. E. M. Ausems, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Chris Jacobs, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana M. Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Carole Brewer, Fiona Douglas, Shirley V. Hodgson, Patrick J. Morrison, Lisa Walker, Mary E. Porteous, M. John Kennedy, Lucy E. Side, Betsy Bove, Andrew K. Godwin, Dominique Stoppa-Lyonnet, Marion Fassy-Colcombet, Laurent Castera, François Cornelis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry-Kryza, Brigitte Bressac-de Paillerets, Olivier Caron, Pascal Pujol, Isabelle Coupier, Capucine Delnatte, Linda Akloul, Henry T. Lynch, Carrie L. Snyder, Saundra S. Buys, Mary B. Daly, Marybeth Terry, Wendy K. Chung, Esther M. John, Alexander Miron, Melissa C. Southey, John L. Hopper, David E. Goldgar, Christian F. Singer, Christine Rappaport, Muy-Kheng M. Tea, Anneliese Fink-Retter, Thomas v. O. Hansen, Finn C. Nielsen, A\dhalgeir Arason, Joseph Vijai, Sohela Shah, Kara Sarrel, Mark E. Robson, Marion Piedmonte, Kelly Phillips, Jack Basil, Wendy S. Rubinstein, John Boggess, Katie Wakeley, Amanda Ewart-Toland, Marco Montagna, Simona Agata, Evgeny N. Imyanitov, Claudine Isaacs, Ramunas Janavicius, Conxi Lazaro, Ignacio Blanco, Lidia Feliubadalo, Joan Brunet, Simon A. Gayther, Paul P. D. Pharoah, Kunle O. Odunsi, Beth Y. Karlan, Christine S. Walsh, Edith Olah, Soo Hwang Teo, Patricia A. Ganz, Mary S. Beattie, Elizabeth J. van Rensburg, Cecelia M. Dorfling, Orland Diez, Ava Kwong, Rita K. Schmutzler, Barbara Wappenschmidt, Christoph Engel, Alfons Meindl, Nina Ditsch, Norbert Arnold, Simone Heidemann, Dieter Niederacher, Sabine Preisler-Adams, Dorothea Gadzicki, Raymonda Varon-Mateeva, Helmut Deissler, Andrea Gehrig, Christian Sutter, Karin Kast, Britta Fiebig, Wolfram Heinritz, Trinidad Caldes, Miguel de La Hoya, Taru A. Muranen, Heli Nevanlinna, Marc D. Tischkowitz, Amanda B. Spurdle, Susan L. Neuhausen, Yuan Chun Ding, Noralane M. Lindor, Zachary Fredericksen, V. Shane Pankratz, Paolo Peterlongo, Siranoush Manoukian, Bernard Peissel, Daniela Zaffaroni, Monica Barile, Loris Bernard, Alessandra Viel, Giuseppe Giannini, Liliana Varesco, Paolo Radice, Mark H. Greene, Phuong L. Mai, Douglas F. Easton, Georgia Chenevix-Trench, Kenneth Offit, Jacques Simard

Date Published: 28th Mar 2012

Publication Type: Journal article

Human Diseases: hereditary breast ovarian cancer syndrome

Navigate

Health Atlas - Local Data Hub/Leipzig

The Health Atlas - Local Data Hub/Leipzig is an alliance of medical ontologists, medical systems biologists and clinical trials groups to design and implement a multi-functional and quality-assured atlas. It provides models, data and metadata on specific use cases from medical research fields.

Registered Repository

re3data.org Badge
Powered by
 (v.1.13.0-master)
Health Atlas | Funding and Programmes | Credits | Terms & Conditions | Privacy Policy | Imprint
Copyright © 2008 - 2021 The University of Manchester and HITS gGmbH
Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig

By continuing to use this site you agree to the use of cookies