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Year of Publication
1.  Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer 
Milne, Roger L. | Goode, Ellen L. | García-Closas, Montserrat | Couch, Fergus J. | Severi, Gianluca | Hein, Rebecca | Fredericksen, Zachary | Malats, Núria | Zamora, M. Pilar | Pérez, Jose Ignacio Arias | Benítez, Javier | Dörk, Thilo | Schürmann, Peter | Karstens, Johann H. | Hillemanns, Peter | Cox, Angela | Brock, Ian W. | Elliot, Graeme | Cross, Simon S. | Seal, Sheila | Turnbull, Clare | Renwick, Anthony | Rahman, Nazneen | Shen, Chen-Yang | Yu, Jyh-Cherng | Huang, Chiun-Sheng | Hou, Ming-Feng | Nordestgaard, Børge G. | Bojesen, Stig E. | Lanng, Charlotte | Alnæs, Grethe Grenaker | Kristensen, Vessela | Børrensen-Dale, Anne-Lise | Hopper, John L. | Dite, Gillian S. | Apicella, Carmel | Southey, Melissa C. | Lambrechts, Diether | Yesilyurt, Betül T. | Floris, Giuseppe | Leunen, Karin | Sangrajrang, Suleeporn | Gaborieau, Valerie | Brennan, Paul | McKay, James | Chang-Claude, Jenny | Wang-Gohrke, Shan | Radice, Paolo | Peterlongo, Paolo | Manoukian, Siranoush | Barile, Monica | Giles, Graham G. | Baglietto, Laura | John, Esther M. | Miron, Alexander | Chanock, Stephen J. | Lissowska, Jolanta | Sherman, Mark E. | Figueroa, Jonine D. | Bogdanova, Natalia V. | Antonenkova, Natalia N. | Zalutsky, Iosif V. | Rogov, Yuri I. | Fasching, Peter A. | Bayer, Christian M. | Ekici, Arif B. | Beckmann, Matthias W. | Brenner, Hermann | Müller, Heiko | Arndt, Volker | Stegmaier, Christa | Andrulis, Irene L. | Knight, Julia A. | Glendon, Gord | Mulligan, Anna Marie | Mannermaa, Arto | Kataja, Vesa | Kosma, Veli-Matti | Hartikainen, Jaana M. | Meindl, Alfons | Heil, Joerg | Bartram, Claus R. | Schmutzler, Rita K. | Thomas, Gilles D. | Hoover, Robert N. | Fletcher, Olivia | Gibson, Lorna J. | Silva, Isabel dos Santos | Peto, Julian | Nickels, Stefan | Flesch-Janys, Dieter | Anton-Culver, Hoda | Ziogas, Argyrios | Sawyer, Elinor | Tomlinson, Ian | Kerin, Michael | Miller, Nicola | Schmidt, Marjanka K. | Broeks, Annegien | Van ‘t Veer, Laura J. | Tollenaar, Rob A.E.M. | Pharoah, Paul D.P. | Dunning, Alison M. | Pooley, Karen A. | Marme, Frederik | Schneeweiss, Andreas | Sohn, Christof | Burwinkel, Barbara | Jakubowska, Anna | Lubinski, Jan | Jaworska, Katarzyna | Durda, Katarzyna | Kang, Daehee | Yoo, Keun-Young | Noh, Dong-Young | Ahn, Sei-Hyun | Hunter, David J. | Hankinson, Susan E. | Kraft, Peter | Lindstrom, Sara | Chen, Xiaoqing | Beesley, Jonathan | Hamann, Ute | Harth, Volker | Justenhoven, Christina | Winqvist, Robert | Pylkäs, Katri | Jukkola-Vuorinen, Arja | Grip, Mervi | Hooning, Maartje | Hollestelle, Antoinette | Oldenburg, Rogier A. | Tilanus-Linthorst, Madeleine | Khusnutdinova, Elza | Bermisheva, Marina | Prokofieva, Darya | Farahtdinova, Albina | Olson, Janet E. | Wang, Xianshu | Humphreys, Manjeet K. | Wang, Qin | Chenevix-Trench, Georgia | Easton, Douglas F.
Background
The single nucleotide polymorphism 5p12-rs10941679has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium.
Methods
Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS) and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression.
Results
For white Europeans, the per-allele odds ratio (OR) associated with 5p12-rs10941679 was 1.11 (95% confidence interval [CI] =1.08–1.14, P=7×10−18) for invasive breast cancer and 1.10 (95%CI=1.01–1.21, P=0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR=1.07, 95%CI=0.99–1.15, P=0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)-positive disease (per-allele OR=1.16, 95%CI=1.12–1.20, P=1×10−18 versus OR=1.03, 95%CI=0.99–1.07, P=0.2 for PR-negative disease; P-heterogeneity=2×10−7); heterogeneity by estrogen receptor status was not observed (P=0.2) once PR status was accounted for. The association was also stronger for lower-grade tumors (per-allele OR [95%CI]=1.20 [1.14–1.25], 1.13 [1.09–1.16] and 1.04 [0.99–1.08] for grade 1, 2 and 3/4, respectively; P–trend=5×10−7).
Conclusion
5p12 is a breast cancer susceptibility locus for PR-positive, lower gradebreast cancer.
Impact
Multi-centre fine-mapping studies of this region are needed as a first step to identifying the causal variant or variants.
doi:10.1158/1055-9965.EPI-11-0569
PMCID: PMC4164116  PMID: 21795498
Breast cancer; SNP; susceptibility; disease subtypes
2.  Extent of Primary Breast Cancer Surgery: Standards and Individualized Concepts 
Breast Care  2012;7(5):364-369.
Surgery is still a main therapeutic option in breast cancer treatment. Nowadays, methods of resection and reconstruction vary according to different tumors and patients. This review presents and discusses standards of care and arising questions on how radical primary breast cancer surgery should be according to different clinical situations. In most early breast cancer patients, breast conservation is the method of choice. The discussion on resection margins is still controversial as different studies show conflicting results. Modified radical mastectomy is the standard in locally advanced breast cancer patients, although there are different promising approaches to spare skin or even the nipple-areola complex. A sentinel node biopsy is the standard of care in clinically node-negative invasive breast cancer patients, whereas the significance of axillary lymphonodectomy seems to be questioned through a number of different findings. Although there are interesting findings to modify surgical approaches in very young or elderly breast cancer patients, it will always be an individualized approach if we do not adhere to current guidelines. Up to date, there are no special surgical procedures in BRCA mutation carriers or patients of high-risk families.
doi:10.1159/000343976
PMCID: PMC3518938  PMID: 24647774
Breast cancer surgery; Resection margins; Sentinel lymph node biopsy; Axillary lymphonodectomy
3.  Detected, yet not Diagnosed – Breast Cancer Screening with MRI Mammography in High-Risk Women 
Breast Care  2012;7(3):236-239.
Background
MRI has been demonstrated to be the most sensitive imaging method for detecting breast cancer in women at high risk, allowing depiction of cancers that are occult on mammography, ultrasound and clinical breast examination. This high sensitivity is tempered by imperfect specificity due to overlap in the features of benign and malignant lesions.
Case
We present the case of a young BRCA2 mutation carrier whose breast cancer could have been diagnosed 2 years earlier; this is a rare case of a false-negative finding in MRI.
Discussion
We discuss morphological, physiological and psychological reasons for underestimation of MRI sets, especially in young women.
Conclusion
We conclude that double reading in MR screening for breast cancer in high-risk women, as conducted for mammography screening, could be considered.
doi:10.1159/000339688
PMCID: PMC3409389  PMID: 22872799
Breast imaging; Familiar breast cancer; Double reading
4.  Preoperative Systemic Treatment in BRCA-Positive Breast Cancer Patients: Case Report and Review of the Literature 
Breast Care  2011;6(5):395-398.
Background
In vitro and in vivo analyses have shown differences in chemosensitivity between breast cancers associated with BRCA1/2 mutations compared to sporadic variants. In the preoperative setting, the tumor response can be directly measured. Therefore, preoperative systemic treatment (PST) offers the opportunity to assess the chemosensitivity in vivo. However, there have been neither clear guidelines for mutation carriers in terms of choice of chemotherapy regimen nor recommendations how to proceed in case of an inadequate response to PST.
Case Report
Herein, we present the history of a 39-year-old woman with bilateral breast cancer who was tested positive for germ-line BRCA1 mutation while under PST. We performed a comprehensive literature review covering the MEDLINE database from 1992 to 2010 on published data regarding PST options for BRCA mutation carriers.
Conclusions
If results of genetic testing are obtained during PST, individual therapy adaptations can be discussed with respect to mainly retrospective data of response to specific drugs. However, larger studies with longer follow-up are eagerly needed to draw firm conclusions before any specific treatment recommendations can be given for BRCA mutation carriers. PST is an ideal setting to evaluate such treatment options and to describe predictive markers that can help define subgroups that benefit most.
doi:10.1159/000333129
PMCID: PMC3357156  PMID: 22619651
Preoperative chemotherapy; BRCA mutation; Breast cancer
5.  7q21-rs6964587 and breast cancer risk: an extended case–control study by the Breast Cancer Association Consortium 
Milne, Roger L | Lorenzo-Bermejo, Justo | Burwinkel, Barbara | Malats, Núria | Arias, Jose Ignacio | Zamora, M Pilar | Benítez, Javier | Humphreys, Manjeet K | García-Closas, Montserrat | Chanock, Stephen J | Lissowska, Jolanta | Sherman, Mark E | Mannermaa, Arto | Kataja, Vesa | Kosma, Veli-Matti | Nevanlinna, Heli | Heikkinen, Tuomas | Aittomäki, Kristiina | Blomqvist, Carl | Anton-Culver, Hoda | Ziogas, Argyrios | Devilee, Peter | van Asperen, Christie J | Tollenaar, Rob A E M | Seynaeve, Caroline | Hall, Per | Czene, Kamila | Liu, Jianjun | Irwanto, Astrid K | Kang, Daehee | Yoo, Keun-Young | Noh, Dong-Young | Couch, Fergus J | Olson, Janet E | Wang, Xianshu | Fredericksen, Zachary | Nordestgaard, Børge G | Bojesen, Stig E | Flyger, Henrik | Margolin, Sara | Lindblom, Annika | Fasching, Peter A | Schulz-Wendtland, Ruediger | Ekici, Arif B | Beckmann, Matthias W | Wang-Gohrke, Shan | Shen, Chen-Yang | Yu, Jyh-Cherng | Hsu, Huan-Ming | Wu, Pei-Ei | Giles, Graham G | Severi, Gianluca | Baglietto, Laura | English, Dallas R | Cox, Angela | Brock, Ian | Elliott, Graeme | Reed, Malcolm W R | Beesley, Jonathan | Chen, Xiaoqing | Fletcher, Olivia | Gibson, Lorna | Silva, Isabel dos Santos | Peto, Julian | Frank, Bernd | Heil, Joerg | Meindl, Alfons | Chang-Claude, Jenny | Hein, Rebecca | Vrieling, Alina | Flesch-Janys, Dieter | Southey, Melissa C | Smith, Letitia | Apicella, Carmel | Hopper, John L | Dunning, Alison M | Pooley, Karen A | Pharoah, Paul D P | Hamann, Ute | Pesch, Beate | Ko, Yon-Dschun | Easton, Douglas F | Chenevix-Trench, Georgia
Journal of Medical Genetics  2011;48(10):698-702.
Background
Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case–control studies.
Methods
The authors genotyped 14 843 invasive case patients and 19 852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression.
Results
For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33 376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01).
Conclusion
This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.
doi:10.1136/jmedgenet-2011-100303
PMCID: PMC3371608  PMID: 21931171
6.  Simultaneous integrated boost for adjuvant treatment of breast cancer- intensity modulated vs. conventional radiotherapy: The IMRT-MC2 trial 
BMC Cancer  2011;11:249.
Background
Radiation therapy is an essential modality in the treatment of breast cancer. Addition of radiotherapy to surgery has significantly increased local control and survival rates of the disease. However, radiotherapy is also associated with side effects, such as tissue fibrosis or enhanced vascular morbidity. Modern radiotherapy strategies, such as intensity modulated radiotherapy (IMRT), can shorten the overall treatment time by integration of the additional tumor bed boost significantly. To what extent this might be possible without impairing treatment outcome and cosmetic results remains to be clarified.
Methods/Design
The IMRT-MC2 study is a prospective, two armed, multicenter, randomized phase-III-trial comparing intensity modulated radiotherapy with integrated boost to conventional radiotherapy with consecutive boost in patients with breast cancer after breast conserving surgery. 502 patients will be recruited and randomized into two arms: patients in arm A will receive IMRT in 28 fractions delivering 50.4 Gy to the breast and 64.4 Gy to the tumor bed by integrated boost, while patients in arm B will receive conventional radiotherapy of the breast in 28 fractions to a dose of 50.4 Gy and consecutive boost in 8 fractions to a total dose of 66.4 Gy.
Discussion
Primary objectives of the study are the evaluation of the cosmetic results 6 weeks and 2 years post treatment and the 2- and 5-year local recurrence rates for the two different radiotherapy strategies. Secondary objectives are long term overall survival, disease free survival and quality of life.
Trial Registration
ClinicalTrials.gov Protocol ID: NCT01322854.
doi:10.1186/1471-2407-11-249
PMCID: PMC3150341  PMID: 21676232

Results 1-6 (6)