Ausgabe 2/2018
Inhalt (20 Artikel)
Novel BRCA1 splice-site mutation in ovarian cancer patients of Slavic origin
Ana Krivokuca, Vita Setrajcic Dragos, Ljiljana Stamatovic, Ana Blatnik, Ivana Boljevic, Vida Stegel, Jelena Rakobradovic, Petra Skerl, Stevo Jovandic, Mateja Krajc, Mirjana Brankovic Magic, Srdjan Novakovic
Discovery of mutations in homologous recombination genes in African-American women with breast cancer
Yuan Chun Ding, Aaron W. Adamson, Linda Steele, Adam M. Bailis, Esther M. John, Gail Tomlinson, Susan L. Neuhausen
Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing
Masood Alqahtani, Caitlin Edwards, Natasha Buzzacott, Karen Carpenter, Khalid Alsaleh, Abdulmalik Alsheikh, Waleed Abozeed, Miral Mashhour, Afnan Almousa, Yousef Housawi, Shareefa Al Hawwaj, Barry Iacopetta
Screening of BMPR1a for pathogenic mutations in familial colorectal cancer type X families from Newfoundland
Daniel R. Evans, Jane S. Green, Michael O. Woods
A new hereditary colorectal cancer network in the Middle East and eastern mediterranean countries to improve care for high-risk families
Zeinab Ghorbanoghli, Carol Jabari, Walid Sweidan, Wail Hammoudeh, George Cortas, Ala I. Sharara, Amal Abedrabbo, Ijad Hourani, Bahareh Mahjoubi, Keivan Majidzadeh, Nurdan Tözün, Hadia Ziada-Bouchaar, Waseem Hamoudi, Osama Diab, Hamid Reza Khorram Khorshid, Henry Lynch, Hans Vasen
Erratum to: A new hereditary colorectal cancer network in the Middle East and eastern Mediterranean countries to improve care for high-risk families
Zeinab Ghorbanoghli, Carol Jabari, Walid Sweidan, Wail Hammoudeh, George Cortas, Ala I. Sharara, Amal Abedrabbo, Ijad Hourani, Bahareh Mahjoubi, Keivan Majidzadeh, Nurdan Tözün, Hadia Ziada-Bouchaar, Waseem Hamoudi, Osama Diab, Hamid Reza Khorram Khorshid, Henry Lynch, Hans Vasen
A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay
Francesca Bianchi, Elena Maccaroni, Laura Belvederesi, Cristiana Brugiati, Riccardo Giampieri, Federica Bini, Raffaella Bracci, Silvia Pagliaretta, Michela Del Prete, Francesco Piva, Alessandra Mandolesi, Marina Scarpelli, Rossana Berardi
Immunohistochemical null-phenotype for mismatch repair proteins in colonic carcinoma associated with concurrent MLH1 hypermethylation and MSH2 somatic mutations
Tao Wang, Zsofia K. Stadler, Liying Zhang, Martin R. Weiser, Olca Basturk, Jaclyn F. Hechtman, Efsevia Vakiani, Lenard B. Saltz, David S. Klimstra, Jinru Shia
Dental anomalies in pediatric patients with familial adenomatous polyposis
Seth Septer, Brenda Bohaty, Robin Onikul, Vandana Kumar, Karen B. Williams, Thomas M. Attard, Craig A. Friesen, Lynn Roosa Friesen
The spectrum of genetic variants in hereditary pancreatic cancer includes Fanconi anemia genes
Thomas P. Slavin, Susan L. Neuhausen, Bita Nehoray, Mariana Niell-Swiller, Ilana Solomon, Christina Rybak, Kathleen Blazer, Aaron Adamson, Kai Yang, Sharon Sand, Nancy Guerrero-Llamas, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Shivali Raja, Vincent Chung, Gagandeep Singh, Sue Nadesan, Sandra Brown, Marcia Cruz-Correa, Gloria M. Petersen, Jeffrey Weitzel
Remarkable effects of imatinib in a family with young onset gastrointestinal stromal tumors and cutaneous hyperpigmentation associated with a germline KIT-Trp557Arg mutation: case report and literature overview
S. Farag, L. E. van der Kolk, H. H. van Boven, A. C. J. van Akkooi, G. L. Beets, J. W. Wilmink, N. Steeghs
Pancreatic adenocarcinoma with a germline PTEN p.Arg234Gln mutation
Sunao Uemura, Hiroyuki Matsubayashi, Yoshimi Kiyozumi, Katsuhiko Uesaka, Yusuke Yamamoto, Keiko Sasaki, Masato Abe, Kenichi Urakami, Masatoshi Kusuhara, Ken Yamaguchi
Mutational analysis of the RB1 gene and the inheritance patterns of retinoblastoma in Jordan
Yacoub A. Yousef, Abdelghani Tbakhi, Maysa Al-Hussaini, Ibrahim AlNawaiseh, Ala Saab, Amal Afifi, Maysa Naji, Mona Mohammad, Rasha Deebajah, Imad Jaradat, Iyad Sultan, Mustafa Mehyar
p53 signaling pathway polymorphisms, cancer risk and tumor phenotype in TP53 R337H mutation carriers
Gabriel S. Macedo, Igor Araujo Vieira, Fernanda Salles Luiz Vianna, Barbara Alemar, Juliana Giacomazzi, Ana Paula Carneiro Brandalize, Maira Caleffi, Sahlua Miguel Volc, Henrique de Campos Reis Galvão, Edenir Inez Palmero, Maria Isabel Achatz, Patricia Ashton-Prolla
Pancreatic neuroendocrine tumor in a patient with a TSC1 variant: case report and review of the literature
Parisa Mortaji, Katherine T. Morris, Von Samedi, Steven Eberhardt, Shawnia Ryan
Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations
Bruno Buecher, Antoine De Pauw, Louis Bazire, Claude Houdayer, Alice Fievet, Virginie Moncoutier, Fereshteh Farkhondeh, Samia Melaabi, Dominique Stoppa Lyonnet, Lisa Golmard
Whole body magnetic resonance imaging (WB-MRI) and brain MRI baseline surveillance in TP53 germline mutation carriers: experience from the Li-Fraumeni Syndrome Education and Early Detection (LEAD) clinic
Jasmina Bojadzieva, Behrang Amini, Suzanne F. Day, Tiffiny L. Jackson, Parijatham S. Thomas, Brandy J. Willis, Whitney R. Throckmorton, Najat C. Daw, Therese B. Bevers, Louise C. Strong
A comparison of cosegregation analysis methods for the clinical setting
John Michael O. Rañola, Quanhui Liu, Elisabeth A. Rosenthal, Brian H. Shirts
Issues related to family history of cancer at the end of life: a palliative care providers’ survey
Catherine Gonthier, Sylvie Pelletier, Pierre Gagnon, Ana Marin, Jocelyne Chiquette, Bruno Gagnon, Louis Roy, Jude Emmanuel Cléophat, Yann Joly, Michel Dorval
Cancer patients’ intentions towards receiving unsolicited genetic information obtained using next-generation sequencing
Rhodé M. Bijlsma, Hester Wessels, Roel H. P. Wouters, Anne M. May, Margreet G. E. M. Ausems, Emile E. Voest, Annelien L. Bredenoord