Matthias W. Beckmann

ORCID: 0000-0002-8441-693X
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About
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Research Areas
  • Ovarian cancer diagnosis and treatment
  • Breast Cancer Treatment Studies
  • Endometrial and Cervical Cancer Treatments
  • Endometriosis Research and Treatment
  • Cancer Genomics and Diagnostics
  • Uterine Myomas and Treatments
  • HER2/EGFR in Cancer Research
  • Medical and Health Sciences Research
  • Cervical Cancer and HPV Research
  • Reproductive Biology and Fertility
  • Cancer-related molecular mechanisms research
  • BRCA gene mutations in cancer
  • Advanced Breast Cancer Therapies
  • Ovarian function and disorders
  • Pregnancy and preeclampsia studies
  • Clinical practice guidelines implementation
  • Health and Medical Studies
  • Cancer Cells and Metastasis
  • Cancer Treatment and Pharmacology
  • Birth, Development, and Health
  • Breast Lesions and Carcinomas
  • Estrogen and related hormone effects
  • Digital Radiography and Breast Imaging
  • AI in cancer detection
  • PARP inhibition in cancer therapy

Comprehensive Cancer Center Erlangen
2016-2025

Friedrich-Alexander-Universität Erlangen-Nürnberg
2016-2025

Universitätsklinikum Erlangen
2016-2025

Cancer Research Center
2024

Institute of Medical Ethics
2024

Novartis (Switzerland)
2023

Jazz Pharmaceuticals (United States)
2023

Karyopharm Therapeutics (United States)
2023

Bristol-Myers Squibb (Germany)
2023

AstraZeneca (Canada)
2008-2023

Nasim Mavaddat Kyriaki Michailidou Joe Dennis Michael Lush Laura Fachal and 95 more Andrew Lee Jonathan P. Tyrer Ting‐Huei Chen Qin Wang Manjeet K. Bolla Xin Yang Muriel A. Adank Thomas U. Ahearn Kristiina Aittomäki Jamie Allen Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Kristan J. Aronson Paul L. Auer Päivi Auvinen Myrto Barrdahl Laura E. Beane Freeman Matthias W. Beckmann Sabine Behrens Javier Benı́tez Marina Bermisheva Leslie Bernstein Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Hiltrud Brauch Michael Bremer Hermann Brenner Adam R. Brentnall Ian W. Brock Angela Brooks‐Wilson Sara Y. Brucker Thomas Brüning Barbara Burwinkel Daniele Campa Brian D. Carter Jose E. Castelao Stephen J. Chanock Rowan T. Chlebowski Hans Christiansen Christine L. Clarke J. Margriet Collée Emilie Cordina‐Duverger Sten Cornelissen Fergus J. Couch Angela Cox Simon S. Cross Kamila Czene Mary B. Daly Peter Devilee Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Lorraine Durcan Miriam Dwek Diana Eccles Arif B. Ekici A. Heather Eliassen Carolina Ellberg Christoph Engel Mikael Eriksson D. Gareth Evans Peter A. Fasching Jonine D. Figueroa Olivia Fletcher Henrik Flyger Asta Försti Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur José Á. García-Sáenz Mia M. Gaudet V. Georgoulias Graham G. Giles I. R. Gilyazova Gord Glendon Mark S. Goldberg David E. Goldgar Anna González‐Neira Grethe I.G. Alnæs Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Lothar Haeberle Eric Hahnen Christopher A. Haiman Niclas Håkansson Ute Hamann Susan E. Hankinson

Stratification of women according to their risk breast cancer based on polygenic scores (PRSs) could improve screening and prevention strategies. Our aim was develop PRSs, optimized for prediction estrogen receptor (ER)-specific disease, from the largest available genome-wide association dataset empirically validate PRSs in prospective studies. The development comprised 94,075 case subjects 75,017 control European ancestry 69 studies, divided into training validation sets. Samples were...

10.1016/j.ajhg.2018.11.002 article EN cc-by-nc-nd The American Journal of Human Genetics 2018-12-13
Ganna Chornokur Hui‐Yi Lin Jonathan P. Tyrer Kate Lawrenson Joe Dennis and 95 more Ernest K. Amankwah Xiaotao Qu Ya-Yu Tsai Heather Jim Zhihua Chen Y. Ann Chen Jennifer Permuth‐Wey Katja K.H. Aben Hoda Anton‐Culver Natalia Antonenkova Fiona Bruinsma Elisa V. Bandera Yukie T. Bean Matthias W. Beckmann Maria Bisogna Line Bjørge Natalia Bogdanova Louise A. Brinton Angela Brooks‐Wilson Clareann H. Bunker Ralf Bützow Ian Campbell Karen Carty Jenny Chang‐Claude Linda S. Cook Daniel W. Cramer Julie M. Cunningham Cezary Cybulski Agnieszka Dansonka‐Mieszkowska Andreas du Bois Evelyn Despierre Ed Dicks Jennifer A. Doherty Thilo Dörk Matthias Dürst Douglas F. Easton Diana Eccles Robert P. Edwards Arif B. Ekici Peter A. Fasching Brooke L. Fridley Yu‐Tang Gao Aleksandra Gentry‐Maharaj Graham G. Giles Rosalind Glasspool Marc T. Goodman Jacek Gronwald Patricia Harrington Philipp Harter Alexander Hein Florian Heitz Michelle A.T. Hildebrandt Peter Hillemanns Claus Høgdall Estrid Høgdall Satoyo Hosono Anna Jakubowska Allan Jensen Bu‐Tian Ji Beth Y. Karlan Linda E. Kelemen Mellissa Kellar Lambertus A. Kiemeney Camilla Krakstad Susanne K. Kjær Jolanta Kupryjańczyk Diether Lambrechts Sandrina Lambrechts Nhu D. Le Alice W. Lee Shashi Lele Arto Leminen Jenny Lester Douglas A. Levine Dong Liang Boon Kiong Lim Jolanta Lissowska Karen H. Lu Jan Lubiński Lene Lundvall Leon F.A.G. Massuger Keitaro Matsuo Valerie McGuire Esther M. John Iain A. McNeish Usha Menon Roger L. Milne Francesmary Modugno Kirsten B. Moysich Roberta B. Ness Heli Nevanlinna Ursula Eilber Kunle Odunsi Sara H. Olson Irene Orlow

Background Defective cellular transport processes can lead to aberrant accumulation of trace elements, iron, small molecules and hormones in the cell, which turn may promote formation reactive oxygen species, promoting DNA damage expression key regulatory cancer genes. As uncontrolled proliferation are hallmarks cancer, including epithelial ovarian (EOC), we hypothesized that inherited variation genes contributes EOC risk. Methods In total, samples were obtained from 14,525 case subjects...

10.1371/journal.pone.0128106 article EN cc-by PLoS ONE 2015-06-19

Circulating tumor cells (CTCs) have been shown to predict reduced survival outcomes in metastatic breast cancer.CTCs were analyzed 2026 patients with early cancer before adjuvant chemotherapy and 1492 after using the CellSearch System. After immuno-magnetic enrichment for expressing epithelial-cell adhesion molecule, CTCs defined as nucleated cytokeratin lacking CD45. The followed a median of 35 months (range = 0-54). Kaplan-Meier analyses log-rank test used analyses. All statistical tests...

10.1093/jnci/dju066 article EN cc-by-nc JNCI Journal of the National Cancer Institute 2014-05-01

Venous thromboembolism is a leading cause of morbidity and mortality during pregnancy the puerperium. However, role mutations in prothrombin factor V genes other thrombophilic abnormalities as risk factors for women puerperium not known.

10.1056/nejm200002103420602 article EN New England Journal of Medicine 2000-02-10

The Arimidex, Tamoxifen, Alone or in Combination (ATAC) trial (median follow-up, 68 months) has shown that adjuvant anastrozole superior efficacy and better tolerability than tamoxifen. However, reduces circulating estrogen, low estradiol levels are associated with decreased bone mineral density (BMD) increased fracture risk. It is therefore important to understand the effects of long-term aromatase inhibitor therapy on BMD.This prospective substudy ATAC assessed BMD changes postmenopausal...

10.1200/jco.2007.11.0726 article EN Journal of Clinical Oncology 2008-02-28
Roger L. Milne Karoline Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar and 95 more Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary K. Finucane Manjeet K. Bolla Lesley McGuffog Qin Wang Cora M. Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al‐Ejeh Jamie Allen Christine B. Ambrosone Christopher I. Amos Irene L. Andrulis Hoda Anton‐Culver Natalia Antonenkova Volker Arndt Norbert Arnold Kristan J. Aronson Bernd Auber Paul L. Auer Margreet G.E.M. Ausems Jacopo Azzollini François Bacot Judith Balmañà Monica Barile Laure Barjhoux Rósa B. Barkardóttir Myrto Barrdahl Daniel R. Barnes Daniel Barrowdale Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Leslie Bernstein Yves‐Jean Bignon Kathleen R. Blazer Marinus J. Blok Carl Blomqvist William J. Blot Kristie Bobolis Bram Boeckx Natalia Bogdanova Anders Bojesen Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Anikó Bozsik Angela R. Bradbury Judith S. Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac–de Paillerets Carole Brewer Louise A. Brinton Per Broberg Angela Brooks‐Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S. Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A. Caligo Ian Campbell Federico Canzian Olivier Caron Ángel Carracedo Brian D. Carter Jose E. Castelao Laurent Castéra Virginie Caux‐Moncoutier Salina Chan Jenny Chang‐Claude Stephen J. Chanock Xiaohong Chen Ting‐Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen Claes Christine L. Clarke Thomas Conner Don Conroy Jackie Cook

10.1038/ng.3785 article EN Nature Genetics 2017-10-23
Paul D.P. Pharoah Ya-Yu Tsai Susan J. Ramus Catherine M. Phelan Ellen L. Goode and 95 more Kate Lawrenson Melissa A. Buckley Brooke L. Fridley Jonathan P. Tyrer Howard C. Shen Rachel Palmieri Weber Rod Karevan Melissa C. Larson Honglin Song Daniel C. Tessier François Bacot Daniel Vincent Julie M. Cunningham Joe Dennis Ed Dicks Katja K.H. Aben Hoda Anton‐Culver Natalia Antonenkova Sebastian M. Armasu Laura Baglietto Elisa V. Bandera Matthias W. Beckmann Michael J. Birrer Greg Bloom Natalia Bogdanova James D. Brenton Louise A. Brinton Angela Brooks‐Wilson Robert Brown Ralf Bützow Ian Campbell Michael E. Carney Renato S. Carvalho Jenny Chang‐Claude Y Anne Chen Zhihua Chen Wong‐Ho Chow Mine Cicek Gerhard A. Coetzee Linda S. Cook Daniel W. Cramer Cezary Cybulski Agnieszka Dansonka‐Mieszkowska Evelyn Despierre Jennifer A. Doherty Thilo Dörk Andreas du Bois Matthias Dürst Diana Eccles Robert P. Edwards Arif B. Ekici Peter A. Fasching David Fenstermacher James M. Flanagan Yu-Tang Gao Montserrat García‐Closas Aleksandra Gentry‐Maharaj Graham G. Giles Anxhela Gjyshi Martin Gore Jacek Gronwald Qi Guo Mari K. Halle Philipp Harter Alexander Hein Florian Heitz Peter Hillemanns Maureen E. Hoatlin Estrid Høgdall Claus Høgdall Satoyo Hosono Anna Jakubowska Allan Jensen Kimberly R. Kalli Beth Y. Karlan Linda E. Kelemen Lambertus A. Kiemeney Susanne K. Kjær Gottfried E. Konecny Camilla Krakstad Jolanta Kupryjańczyk Diether Lambrechts Sandrina Lambrechts Nhu D. Le Nathan Lee Janet Lee Arto Leminen Boon Kiong Lim Jolanta Lissowska Jan Lubiński Lene Lundvall Galina Lurie Leon F.A.G. Massuger Keitaro Matsuo Valerie McGuire

10.1038/ng.2564 article EN Nature Genetics 2013-03-27
Ellen L. Goode Matthew S. Block Kimberly R. Kalli Robert A. Vierkant Wenqian Chen and 94 more Zachary C. Fogarty Aleksandra Gentry‐Maharaj Aleksandra Tołoczko Alexander Hein Aliecia L. Bouligny Allan Jensen Ana Osório Andreas D. Hartkopf Andy Ryan Anita Chudecka-Głaz Anthony M. Magliocco Arndt Hartmann Audrey Jung Bo Gao Brenda Y. Hernandez Brooke L. Fridley Bryan M. McCauley Catherine J. Kennedy Chen Wang Chloe Karpinskyj Christiani Bisinoto de Sousa Daniel Guimarães Tiezzi David L. Wachter Esther Herpel Florin‐Andrei Taran Francesmary Modugno Gregg Nelson Jan Lubiński Janusz Menkiszak Jennifer Alsop Jenny Lester Jesús García-Donás Jill Nation Jillian A. Hung José Palacios Joseph H. Rothstein Joseph L. Kelley Jurandyr Moreira de Andrade Luis A. Díaz‐Robles Maria P. Intermaggio Martin Widschwendter Matthias W. Beckmann Matthias Ruebner Mercedes Jimenez‐Liñan Naveena Singh Oleg Oszurek Paul R. Harnett Peter Rambau Hans‐Peter Sinn Philipp Wagner Prafull Ghatage Raghwa Sharma Robert P. Edwards Roberta B. Ness Sandra Oršulić Sara Y. Brucker Sharon E. Johnatty Teri A. Longacre Ursula Eilber Valerie McGuire Weiva Sieh Yanina Natanzon Zheng Li Alice S. Whittemore Anna deFazio Annette Staebler Beth Y. Karlan C. Blake Gilks David D.L. Bowtell Estrid Høgdall Francisco José Cândido dos Reis Helen Steed Ian Campbell Jacek Gronwald Javier Benı́tez Jennifer M. Koziak Jenny Chang‐Claude Kirsten B. Moysich Linda E. Kelemen Linda S. Cook Marc T. Goodman María J. García Peter A. Fasching Stefan Kommoss Suha Deen Susanne K. Kjær Usha Menon James D. Brenton Paul D.P. Pharoah Georgia Chenevix‐Trench David G. Huntsman Stacey J. Winham Martin Köbel Susan J. Ramus

Cytotoxic CD8+ tumor-infiltrating lymphocytes (TILs) participate in immune control of epithelial ovarian cancer; however, little is known about prognostic patterns TILs by histotype and relation to other clinical factors.

10.1001/jamaoncol.2017.3290 article EN JAMA Oncology 2017-10-19

The pathological complete response (pCR) after neoadjuvant chemotherapy is a surrogate marker for favorable prognosis in breast cancer patients. Factors capable of predicting pCR, such as the proliferation Ki67, may therefore help improve our understanding drug and its effect on prognosis. This study investigated predictive prognostic value Ki67 patients with invasive receiving treatment cancer. was stained routinely from core biopsies 552 directly fixation embedding process. HER2/neu,...

10.1186/1471-2407-11-486 article EN cc-by BMC Cancer 2011-11-14

10.1038/ng.424 article EN Nature Genetics 2009-08-02

What is the success rate in terms of ovarian activity (menstrual cycles) as well pregnancy and delivery rates 1 year after orthotopic transplantations conducted a three-country network? In 49 women with follow-up >1 transplantation, ovaries were active 67% cases 33 25%, respectively. Cryopreservation tissue advance cytotoxic therapies later transplantation being performed increasingly often, total have been described case series. However, published series not allowed either more detailed...

10.1093/humrep/dew165 article EN Human Reproduction 2016-07-04
Tracy A. O’Mara Dylan M. Glubb Frédéric Amant Daniela Annibali Katie A. Ashton and 95 more John Attia Paul L. Auer Matthias W. Beckmann Amanda Black Manjeet K. Bolla Hiltrud Brauch Hermann Brenner Louise A. Brinton Daniel D. Buchanan Barbara Burwinkel Jenny Chang‐Claude Stephen J. Chanock Chu Chen Maxine M. Chen Timothy Cheng Christine L. Clarke Mark Clendenning Linda S. Cook Fergus J. Couch Angela Cox Marta Crous‐Bou Kamila Czene Felix R. Day Joe Dennis Jeroen Depreeuw Jennifer A. Doherty Thilo Dörk Sean C. Dowdy Matthias Dürst Arif B. Ekici Peter A. Fasching Brooke L. Fridley Christine M. Friedenreich Lin Fritschi Jenny N. Fung Montserrat García‐Closas Mia M. Gaudet Graham G. Giles Ellen L. Goode Maggie Gorman Christopher A. Haiman Per Hall Susan E. Hankison Catherine S. Healey Alexander Hein Peter Hillemanns Shirley Hodgson Erling A. Høivik Elizabeth Holliday John L. Hopper David J. Hunter Angela Jones Camilla Krakstad Vessela N. Kristensen Diether Lambrechts Loı̈c Le Marchand Xiaolin Liang Annika Lindblom Jolanta Lissowska Jirong Long Lingeng Lu Anthony M. Magliocco Lynn Martin Mark McEvoy Alfons Meindl Kyriaki Michailidou Roger L. Milne Miriam Mints Grant W. Montgomery Rami Nassir Håkan Olsson Irene Orlow Geoffrey Otton Claire Palles John R. B. Perry Julian Peto Loreall Pooler Jennifer Prescott Tony Proietto Timothy R. Rebbeck Harvey A. Risch Peter A. W. Rogers Matthias Rübner Ingo B. Runnebaum Carlotta Sacerdote Gloria E. Sarto Fredrick R. Schumacher Rodney J. Scott Veronica Wendy Setiawan Mitul Shah Xin Sheng Xiao‐Ou Shu Melissa C. Southey Anthony J. Swerdlow Emma Tham

Endometrial cancer is the most commonly diagnosed of female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, present an expanded meta-analysis 12,906 cases and 108,979 controls (including new genotype data 5624 cases) identify nine novel significant loci, including a locus on 12q24.12 by meta-GWAS colorectal At five expression quantitative trait (eQTL) analyses candidate...

10.1038/s41467-018-05427-7 article EN cc-by Nature Communications 2018-08-03

Introduction MicroRNAs (miRNAs, miRs) are a class of small, non-coding RNA molecules with relevance as regulators gene expression thereby affecting crucial processes in cancer development. MiRNAs offer great potential biomarkers for detection due to their remarkable stability blood and characteristic many different diseases. We investigated whether microarray-based miRNA profiling on whole could discriminate between early stage breast patients healthy controls. Methods performed 48 at...

10.1371/journal.pone.0029770 article EN cc-by PLoS ONE 2012-01-05

Abstract Identifying molecular alterations in normal tissue adjacent to cancer is important for understanding aetiology and designing preventive measures. Here we analyse the DNA methylome of 569 breast samples, including 50 from cancer-free women 84 matched pairs. We use statistical algorithms dissecting intra- inter-sample cellular heterogeneity demonstrate that characterized by tens thousands epigenetic alterations. show their genomic distribution non-random, being strongly enriched...

10.1038/ncomms10478 article EN cc-by Nature Communications 2016-01-29
Lang Wu Wei Shi Jirong Long Xingyi Guo Kyriaki Michailidou and 95 more Jonathan Beesley Manjeet K. Bolla Xiao‐Ou Shu Yingchang Lu Qiuyin Cai Fares Al‐Ejeh Esdy Rozali Qin Wang Joe Dennis Bingshan Li Chenjie Zeng Helian Feng Alexander Gusev Richard Barfield Irene L. Andrulis Hoda Anton‐Culver Volker Arndt Kristan J. Aronson Paul L. Auer Myrto Barrdahl Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Carl Blomqvist Natalia Bogdanova Stig E. Bojesen Hiltrud Brauch Hermann Brenner Louise A. Brinton Per Broberg Sara Y. Brucker Barbara Burwinkel Trinidad Caldés Federico Canzian Brian D. Carter Jose E. Castelao Jenny Chang‐Claude Xiaohong Chen Ting‐Yuan David Cheng Hans Christiansen Christine L. Clarke Margriet Collée Sten Cornelissen Fergus J. Couch David G. Cox Angela Cox Simon S. Cross Julie M. Cunningham Kamila Czene Mary B. Daly Peter Devilee Kimberly F. Doheny Thilo Dörk Isabel dos‐Santos‐Silva Martine Dumont Miriam Dwek Diana Eccles Ursula Eilber A. Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Peter A. Fasching Jonine D. Figueroa Dieter Flesch‐Janys Olivia Fletcher Henrik Flyger Lin Fritschi Marike Gabrielson Manuela Gago‐Dominguez Susan M. Gapstur Montserrat García‐Closas Mia M. Gaudet Maya Ghoussaini Graham G. Giles Mark S. Goldberg David E. Goldgar Anna González‐Neira Pascal Guénel Eric Hahnen Christopher A. Haiman Niclas Håkansson Per Hall Emily Hallberg Ute Hamann Patricia Harrington Alexander Hein Belynda Hicks Peter Hillemanns Antoinette Hollestelle Robert N. Hoover John L. Hopper Guanmengqian Huang Keith Humphreys

10.1038/s41588-018-0132-x article EN Nature Genetics 2018-06-18

We evaluated whether a 76-locus polygenic risk score (PRS) and Breast Imaging Reporting Data System (BI-RADS) breast density were independent factors within three studies (1643 case patients, 2397 control patients) using logistic regression models. incorporated the PRS odds ratio (OR) into Cancer Surveillance Consortium (BCSC) risk-prediction model while accounting for its attributable compared five-year absolute predictions between models area under curve (AUC) statistics. All statistical...

10.1093/jnci/dju397 article EN JNCI Journal of the National Cancer Institute 2015-03-05
Melissa C. Southey David E. Goldgar Robert Winqvist Katri Pylkäs Fergus J. Couch and 95 more Marc Tischkowitz William D. Foulkes Joe Dennis Kyriaki Michailidou Elizabeth J. van Rensburg Tuomas Heikkinen Heli Nevanlinna John L. Hopper Thilo Dörk Kathleen Claes Jorge S. Reis‐Filho Zhi L. Teo Paolo Radice Irene Catucci Paolo Peterlongo Helen Tsimiklis Fabrice Odefrey James G. Dowty Marjanka K. Schmidt Annegien Broeks Frans B.L. Hogervorst Senno Verhoef Jane Carpenter Christine L. Clarke Rodney J. Scott Peter A. Fasching Lothar Haeberle Arif B. Ekici Matthias W. Beckmann Julian Peto Isabel dos‐Santos‐Silva Olivia Fletcher Nichola Johnson Manjeet K. Bolla Elinor J. Sawyer Ian Tomlinson Michael J. Kerin Nicola Miller F. Marmé Barbara Burwinkel Rongxi Yang Pascal Guénel Thérèse Truong F. Ménégaux Marie-Pierre Sanchez Stig E. Bojesen Sune F. Nielsen Henrik Flyger Javier Benı́tez M. Pilar Zamora José Ignacio Arias Pérez Primitiva Menéndez Hoda Anton‐Culver Susan L. Neuhausen Argyrios Ziogas Christina A. Clarke Hermann Brenner Volker Arndt Christa Stegmaier Hiltrud Brauch Thomas Brüning Yon‐Dschun Ko Taru Muranen Kristiina Aittomäki Carl Blomqvist Natalia Bogdanova Natalia Antonenkova Annika Lindblom Sara Margolin Graham J. Mann Vesa Kataja Veli‐Matti Kosma Jaana M. Hartikainen Amanda B. Spurdle kConFab Investigators Els Wauters Dominiek Smeets Benoit Beuselinck Giuseppe Floris Jenny Chang‐Claude Anja Rudolph Petra Seibold Dieter Flesch‐Janys Janet E. Olson Celine M. Vachon V. Shane Pankratz Catriona McLean Christopher A. Haiman Brian E. Henderson Fredrick R. Schumacher Loı̈c Le Marchand Vessela Kristensen Grethe Grenaker Alnæs Wei Zheng David J. Hunter

The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some these are with breast risk as high those rare BRCA2 mutations. We aimed the relative risks specific variants via a multicentre case-control study.

10.1136/jmedgenet-2016-103839 article EN cc-by Journal of Medical Genetics 2016-09-05

The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is a malformation of the female genitals (occurring in one 4000 live births) as result interrupted embryonic development Müllerian (paramesonephric) ducts. This retrospective study examined issue associated malformations, subtyping, and frequency distribution subtypes MRKH syndrome.Fifty-three patients were investigated using newly developed standardized questionnaire. Together with results clinical diagnostic examinations, classified into...

10.1093/humrep/dei381 article EN Human Reproduction 2005-11-11

The eLEcTRA trial compared efficacy and safety of letrozole combined with trastuzumab to alone in patients HER2 hormone receptor (HR) positive metastatic breast cancer (MBC). Patients were randomized either (arm A, n = 31) or plus B, 26) as first-line treatment. Additional 35 negative HR tumors received C).Median time progression arm A was 3.3 months 14.1 B (hazard ratio 0.67; p 0.23) 15.2 C 0.71; 0.03). Clinical benefit rate 39% for 65% (odds 2.99, 95% CI 1.01–8.84) 77% 5.34,...

10.1016/j.breast.2011.07.006 article EN cc-by-nc-nd The Breast 2011-09-09
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