Oncology

  • A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype
    Lili Li, Nancy Hamel, Kristi Baker, Michael J McGuffin, Martin Couillard, Adrian Gologan, Victoria A Marcus, Bernard Chodirker, Albert Chudley, Camelia Stefanovici, Anne Durandy, Robert A Hegele, Bing-Jian Feng, David E Goldgar, Jun Zhu, Marina De Rosa, Stephen B Gruber, Katharina Wimmer, Barbara Young, George Chong, Marc D Tischkowitz, William D Foulkes
  • BRCA1 Circos: a visualisation resource for functional analysis of missense variants
    Ankita Jhuraney, Aneliya Velkova, Randall C Johnson, Bailey Kessing, Renato S Carvalho, Phillip Whiley, Amanda B Spurdle, Maaike P G Vreeswijk, Sandrine M Caputo, Gael A Millot, Ana Vega, Nicolas Coquelle, Alvaro Galli, Diana Eccles, Marinus J Blok, Tuya Pal, Rob B van der Luijt, Marta Santamariña Pena, Susan L Neuhausen, Talia Donenberg, Eva Machackova, Simon Thomas, Maxime Vallée, Fergus J Couch, Sean V Tavtigian, J N Mark Glover, Marcelo A Carvalho, Lawrence C Brody, Shyam K Sharan, Alvaro N Monteiro,
  • Genetic associations of the interleukin locus at 1q32.1 with clinical outcomes of cutaneous melanoma
    Justin Rendleman, Matjaz Vogelsang, Anuj Bapodra, Christina Adaniel, Ines Silva, Duane Moogk, Carlos N Martinez, Nathaniel Fleming, Jerry Shields, Richard Shapiro, Russell Berman, Anna Pavlick, David Polsky, Yongzhao Shao, Iman Osman, Michelle Krogsgaard, Tomas Kirchhoff
  • Transmission of germline TP53 mutations from male carriers to female partners
    Sophie Patrier-Sallebert, Gaëlle Bougeard, Stéphanie Baert-Desurmont, Aude Lamy, Jean-Michel Flaman, Ludovic Mansuy, Myriam Bronner, Christine Lasset, Laurence Brugières, François Golfier, Thierry Frebourg
  • DCAF4, a novel gene associated with leucocyte telomere length
    Massimo Mangino, Lene Christiansen, Rivka Stone, Steven C Hunt, Kent Horvath, Dan T A Eisenberg, Masayuki Kimura, Inge Petersen, Jeremy D Kark, Utz Herbig, Alex P Reiner, Athanase Benetos, Veryan Codd, Dale R Nyholt, Ronit Sinnreich, Kaare Christensen, Hisham Nassar, Shih-Jen Hwang, Daniel Levy, Veronique Bataille, Annette L Fitzpatrick, Wei Chen, Gerald S Berenson, Nilesh J Samani, Nicholas G Martin, Sarah Tishkoff, Nicholas J Schork, Kirsten Ohm Kyvik, Christine Dalgård, Timothy D Spector, Abraham Aviv
  • Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells
    Xiangning Meng, Xiuying Qi, Huanhuan Guo, Mengdi Cai, Chunxiang Li, Jing Zhu, Feng Chen, Huan Guo, Jie Li, Yuzhen Zhao, Peng Liu, Xueyuan Jia, Jingcui Yu, Chunyu Zhang, Wenjing Sun, Yang Yu, Yan Jin, Jing Bai, Mingrong Wang, Jesusa Rosales, Ki-Young Lee, Songbin Fu
  • Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC)
    K Newton, N M Jorgensen, A J Wallace, D D Buchanan, F Lalloo, R F T McMahon, J Hill, D G Evans
  • Juvenile myelomonocytic leukaemia and Noonan syndrome
    Marion Strullu, Aurélie Caye, Julie Lachenaud, Bruno Cassinat, Steven Gazal, Odile Fenneteau, Nathalie Pouvreau, Sabrina Pereira, Clarisse Baumann, Audrey Contet, Nicolas Sirvent, Françoise Méchinaud, Isabelle Guellec, Dalila Adjaoud, Catherine Paillard, Corinne Alberti, Martin Zenker, Christine Chomienne, Yves Bertrand, André Baruchel, Alain Verloes, Hélène Cavé
  • Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies
    D Gareth Evans, Elaine Harkness, Fiona Lalloo, Anthony Howell
  • High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families
    Hildur Helgadottir, Veronica Höiom, Göran Jönsson, Rainer Tuominen, Christian Ingvar, Åke Borg, Håkan Olsson, Johan Hansson

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