Ausgabe 3/2010
Inhalt (33 Artikel)
RASSF1A polymorphism in familial breast cancer
J. Bergqvist, A. Latif, S. A. Roberts, K. D. Hadfield, F. Lalloo, A. Howell, D. G. Evans, W. G. Newman
Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland
Aneta Balabas, Elzbieta Skasko, Dorota Nowakowska, Anna Niwinska, Pawel Blecharz
Identification of the first case of germline duplication of BRCA1 exon 13 in an Italian family
Roberta Cerutti, Nora Sahnane, Ileana Carnevali, Daniela Furlan, Maria Grazia Tibiletti, Anna Maria Chiaravalli, Carlo Capella
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations
Ane Y. Steffensen, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Finn C. Nielsen, Thomas V. O. Hansen
LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not
E. Beristain, I. Guerra, N. Vidaurrazaga, J. Burgos-Bretones, M. I. Tejada
Relationship of BRCA1 and BRCA2 mutations with cancer burden in the family and tumor incidence
Eva Esteban Cardeñosa, Pascual Bolufer Gilabert, Inmaculada de Juan Jiménez, Sarai Palanca Suela, Eva Barragán González, Virginia González Anguix, Enrique Lerma Alejos, Isabel Chirivella González, Ángel Segura Huerta, Carmen Guillén Ponce, Eduardo Martínez de Dueñas, Dolores Cuevas Cuerda, Dolores Salas Trejo
Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain
Judit Sanz, Teresa Ramón y Cajal, Asunción Torres, Esther Darder, Neus Gadea, Angela Velasco, Daniel Fortuny, Consol López, David Fisas, Joan Brunet, M. Carmen Alonso, Judith Balmaña
Can self-esteem, mastery and perceived stigma predict long-term adjustment in women carrying a BRCA1/2-mutation? Evidence from a multi-center study
Andrea Vodermaier, Mary Jane Esplen, Christine Maheu
Novel one-stop multidisciplinary follow-up clinic significantly improves cancer risk management in BRCA1/2 carriers
G. Pichert, C. Jacobs, I. Jacobs, U. Menon, R. Manchanda, M. Johnson, H. Hamed, C. Firth, M. Evison, A. Tutt, L. de Silva, C. Langman, L. Izatt
Successful oxytocin-assisted nipple aspiration in women at increased risk for breast cancer
Karijn P. M. Suijkerbuijk, Elsken van der Wall, Helen Meijrink, Xiaojuan Pan, Inne H. M. Borel Rinkes, Margreet G. E. M. Ausems, Paul J. van Diest
Differences in clinical and pathological characteristics of colorectal cancer in Arab as compared to Jewish patients in Northern Israel
Yelena Glushko, Walid Basher, Micha Barchana, Jamal Zidan
Pregnancy after prophylactic total gastrectomy
Pardeep Kaurah, Rebecca Fitzgerald, Sarah Dwerryhouse, David G. Huntsman
Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families
Emily P. Slater, Peter Langer, Volker Fendrich, Nils Habbe, Brunhilde Chaloupka, Elvira Matthäi, Mercedes Sina, Stephan A. Hahn, Detlef K. Bartsch
Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome
Chau-To Kwok, Robyn L. Ward, Nicholas J. Hawkins, Megan P. Hitchins
Lynch syndrome: the influence of environmental factors on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mutation-negative sisters
M. M. Blokhuis, G. E. Pietersen, P. A. Goldberg, U. Algar, L. Van der Merwe, N. Mbatani, A. A. Vorster, R. S. Ramesar
Analysis of mismatch repair gene mutations in Turkish HNPCC patients
Berrin Tunca, Monica Pedroni, Gulsah Cecener, Unal Egeli, Enrica Borsi, Abdullah Zorluoglu, Carmela Di Gregorio, Tuncay Yilmazlar, Omer Yerci, Maurizio Ponz de Leon
Atypical identification of Lynch syndrome by immunohistochemistry and microsatellite instability analysis on jejunal adenocarcinoma
D. E. McIlvried, R. E. Birhiray, J. Z. Lu
High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome
Christine Nyiraneza, Etienne Marbaix, Mireille Smets, Christine Galant, Christine Sempoux, Karin Dahan
Location in the large bowel influences the APC mutations observed in FAP adenomas
O. C. Will, S. J. Leedham, G. Elia, R. K. S. Phillips, S. K. Clark, I. P. M. Tomlinson
A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype
Florentia Fostira, Drakoulis Yannoukakos
Juvenile nasopharyngeal angiofibroma: no evidence for inheritance or association with familial adenomatous polyposis
Tuomas Klockars, Suvi Renkonen, Ilmo Leivo, Jaana Hagström, Antti A. Mäkitie
Familial adenomatous polyposis (FAP) and gender. Does gender influence the genetic transmission of FAP?
Eriberto Farinella, Ramawad Soobrah, Robin K. S. Phillips, Susan K. Clark
Surgical prophylaxis in familial adenomatous polyposis: do pre-existing desmoids outside the abdominal cavity matter?
Ashish Sinha, Daniel C. Gibbons, Robin K. Phillips, Sue Clark
Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation
Lindsay B. Robertson, Georgina N. Armstrong, Bianca D. Olver, Amy L. Lloyd, Sanjay Shete, Ching Lau, Elizabeth B. Claus, Jill Barnholtz-Sloan, Rose Lai, Dora Il’yasova, Joellen Schildkraut, Jonine L. Bernstein, Sara H. Olson, Robert B. Jenkins, Ping Yang, Amanda L. Rynerason, Margaret Wrensch, Lucie McCoy, John K. Wienkce, Bridget McCarthy, Faith Davis, Nicholas A. Vick, Christoffer Johansen, Hanne Bødtcher, Siegal Sadetzki, Revital Bar-Sade Bruchim, Galit Hirsh Yechezkel, Ulrika Andersson, Beatrice S. Melin, Melissa L. Bondy, Richard S. Houlston
Erratum to: Survey of familial glioma and role of germline p16 INK4A /p14 ARF and p53 mutation
Lindsay B. Robertson, Georgina N. Armstrong, Bianca D. Olver, Amy L. Lloyd, Sanjay Shete, Ching Lau, Elizabeth B. Claus, Jill Barnholtz-Sloan, Rose Lai, Dora Il’yasova, Joellen Schildkraut, Jonine L. Bernstein, Sara H. Olson, Robert B. Jenkins, Ping Yang, Amanda Lynn Rynearson, Margaret Wrensch, Lucie McCoy, John K. Wienkce, Bridget McCarthy, Faith Davis, Nicholas A. Vick, Christoffer Johansen, Hanne Bødtcher, Siegal Sadetzki, Revital Bar-Sade Bruchim, Galit Hirsh Yechezkel, Ulrika Andersson, Beatrice S. Melin, Melissa L. Bondy, Richard S. Houlston
A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma
Fatemeh Abbaszadeh, Karen T. Barker, Carmel McConville, Richard H. Scott, Nazneen Rahman
Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma
M. H. Abdel-Rahman, R. Pilarski, S. Ezzat, J. Sexton, F. H. Davidorf
Screening for germline DND1 mutations in testicular cancer patients
Rolf H. Sijmons, Yvonne J. Vos, Johanna C. Herkert, Krista K. Bos, Martijn F. Lutke Holzik, Josette E. H. M. Hoekstra-Weebers, Robert M. W. Hofstra, Harald J. Hoekstra
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients
Ismail Alrashdi, Gul Bano, Eamonn R. Maher, Shirley V. Hodgson
Assessment of clinical practices among cancer genetic counselors
Deborah Wham, Thuy Vu, Gayun Chan-Smutko, Christine Kobelka, Diana Urbauer, Brandie Heald
“I have always believed I was at high risk…” The role of expectation in emotional responses to the receipt of an average, moderate or high cancer genetic risk assessment result: a thematic analysis of free-text questionnaire comments
J. Hilgart, C. Phelps, P. Bennett, K. Hood, K. Brain, A. Murray
Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes
Amanda C. Brandt, Matthew L. Tschirgi, Kaylene J. Ready, Charlotte Sun, Sandra Darilek, Jacqueline Hecht, Banu K. Arun, Karen H. Lu