TY  - JOUR
A1  - Martrat, Griselda
A1  - Maxwell, Christopher A.
A1  - Tominaga, Emiko
A1  - Porta-de-la-Riva, Montserrat
A1  - Bonifaci, Núria
A1  - Gómez-Baldó, Laia
A1  - Bogliolo, Massimo
A1  - Lázaro, Conxi
A1  - Blanco, Ignacio
A1  - Brunet, Joan
A1  - Neveling, Kornelia
A1  - et al, 
T1  - Exploring the link between MORF4L1 and risk of breast cancer
JF  - Breast Cancer Research
N2  - Introduction: 
Proteins encoded by Fanconi anemia (FA) and/or breast cancer (BrCa) susceptibility genes cooperate in a common DNA damage repair signaling pathway. To gain deeper insight into this pathway and its influence on cancer risk, we searched for novel components through protein physical interaction screens.

Methods: 
Protein physical interactions were screened using the yeast two-hybrid system. Co-affinity purifications and endogenous co-immunoprecipitation assays were performed to corroborate interactions. Biochemical and functional assays in human, mouse and Caenorhabditis elegans models were carried out to characterize pathway components. Thirteen FANCD2-monoubiquitinylation-positive FA cell lines excluded for genetic defects in the downstream pathway components and 300 familial BrCa patients negative for BRCA1/2 mutations were analyzed for genetic mutations. Common genetic variants were genotyped in 9,573 BRCA1/2 mutation carriers for associations with BrCa risk.

Results: 
A previously identified co-purifying protein with PALB2 was identified, MRG15 (MORF4L1 gene). Results in human, mouse and C. elegans models delineate molecular and functional relationships with BRCA2, PALB2, RAD51 and RPA1 that suggest a role for MRG15 in the repair of DNA double-strand breaks. Mrg15-deficient murine embryonic fibroblasts showed moderate sensitivity to g-irradiation relative to controls and reduced formation of Rad51 nuclear foci. Examination of mutants of MRG15 and BRCA2 C. elegans orthologs revealed phenocopy by accumulation of RPA-1 (human RPA1) nuclear foci and aberrant chromosomal compactions in meiotic cells.
However, no alterations or mutations were identified for MRG15/MORF4L1 in unclassified FA patients and BrCa familial cases. Finally, no significant associations between common MORF4L1 variants and BrCa risk for BRCA1 or BRCA2 mutation carriers were identified: rs7164529, Ptrend = 0.45 and 0.05, P2df = 0.51 and 0.14, respectively; and rs10519219, Ptrend = 0.92 and 0.72, P2df = 0.76 and 0.07, respectively.

Conclusions: 
While the present study expands on the role of MRG15 in the control of genomic stability, weak associations cannot be ruled out for potential low-penetrance variants at MORF4L1 and BrCa risk among BRCA2
mutation carriers.
KW  - breast cancer
Y1  - 2011
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-169119
VL  - 13
IS  - R40
ER  - 
TY  - JOUR
A1  - van Oorschot, Birgitt
A1  - Beckmann, Gabriele
A1  - Schulze, Wolfgang
A1  - Rades, Dirk
A1  - Feyer, Petra
T1  - Radiotherapeutic options for symptom control in breast cancer
JF  - Breast Care
N2  - The majority of breast cancer patients will require radiation therapy at some time during the course of their disease. An estimated 30–50% of all radiation treatments are of palliative nature, either to alleviate symptoms or prophylactic to prevent deterioration of quality of life due to locally progressive disease. Radiotherapy is a locally effective tool, and typically causes no systemic and mostly mild acute side effects. The following article provides an overview of options and decision-making in palliative radiotherapy for symptom control.
N2  - Die Mehrzahl der Patientinnen mit Brustkrebs erhält im Krankheitsverlauf einmalig oder mehrfach eine lokale Strahlentherapie, 30–50% der Behandlungen erfolgen unter palliativer Zielsetzung, entweder zur Linderung belastender Symptome oder palliativ-präventiv zur Sicherung der Lebensqualität durch die Vermeidung lokaler Komplikationen oder eines lokalen, zeitbegrenzten Tumorprogresses. Strahlentherapie ist ein lokal wirksames Verfahren mit zumeist nur leichten Nebenwirkungen. Der vorliegende Artikel gibt einen Überblick über die Möglichkeiten der palliativen Strahlentherapie zur Symptomlinderung und über die medizinische Entscheidungsfindung.
KW  - radiotherapy
KW  - breast cancer
KW  - symptom control
KW  - palliative care
KW  - Strahlentherapie
KW  - Mammakarzinom
KW  - Symptomlinderung
KW  - Palliativmedizin
Y1  - 2011
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-199105
SN  - 1661-3791
SN  - 1661-3805
N1  - This publication is with permission of the rights owner freely accessible due to an Alliance licence and a national licence (funded by the DFG, German Research Foundation) respectively.
VL  - 6
IS  - 1
ER  -