Oncology

  • A germline mutation in PBRM1 predisposes to renal cell carcinoma
    Patrick R Benusiglio, Sophie Couvé, Brigitte Gilbert-Dussardier, Sophie Deveaux, Hélène Le Jeune, Mélanie Da Costa, Gaëlle Fromont, Françoise Memeteau, Mokrane Yacoub, Isabelle Coupier, Dominique Leroux, Arnaud Méjean, Bernard Escudier, Sophie Giraud, Anne-Paule Gimenez-Roqueplo, Christophe Blondel, Eric Frouin, Bin T Teh, Sophie Ferlicot, Brigitte Bressac-de Paillerets, Stéphane Richard, Sophie Gad
  • Common cancers share familial susceptibility: implications for cancer genetics and counselling
    Hongyao Yu, Christoph Frank, Jan Sundquist, Akseli Hemminki, Kari Hemminki
  • Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort
    N Lavoine, C Colas, M Muleris, S Bodo, A Duval, N Entz-Werle, F Coulet, O Cabaret, F Andreiuolo, C Charpy, G Sebille, Q Wang, S Lejeune, M P Buisine, D Leroux, G Couillault, G Leverger, J P Fricker, R Guimbaud, M Mathieu-Dramard, G Jedraszak, O Cohen-Hagenauer, L Guerrini-Rousseau, F Bourdeaut, J Grill, O Caron, S Baert-Dusermont, J Tinat, G Bougeard, T Frébourg, L Brugières
  • Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer
    Adela Castillejo, Eva Hernández-Illán, María Rodriguez-Soler, Lucía Pérez-Carbonell, Cecilia Egoavil, Victor M Barberá, María-Isabel Castillejo, Carla Guarinos, Eduardo Martínez-de-Dueñas, María-Jose Juan, Ana-Beatriz Sánchez-Heras, Zaida García-Casado, Clara Ruiz-Ponte, Alejandro Brea-Fernández, Miriam Juárez, Luis Bujanda, Juan Clofent, Xavier Llor, Montserrat Andreu, Antoni Castells, Angel Carracedo, Cristina Alenda, Artemio Payá, Rodrigo Jover, José-Luis Soto
  • MicroRNA-129-1 acts as tumour suppressor and induces cell cycle arrest of GBM cancer cells through targeting IGF2BP3 and MAPK1
    Fatemeh Kouhkan, Naser Mobarra, Mina Soufi-Zomorrod, Farid Keramati, Seyed Mohammad Ali Hosseini Rad, Mehrnoosh Fathi-Roudsari, Rezvan Tavakoli, Athena Hajarizadeh, Said Ziaei, Reyhaneh Lahmi, Hamed Hanif, Masoud Soleimani
  • High frequency of de novo mutations in Li–Fraumeni syndrome
    K D Gonzalez, C H Buzin, K A Noltner, D Gu, W Li, D Malkin, S S Sommer
  • No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
    Douglas F Easton, Fabienne Lesueur, Brennan Decker, Kyriaki Michailidou, Jun Li, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Joe Dennis, Jamil Ahmad, Ella R Thompson, Francesca Damiola, Maroulio Pertesi, Catherine Voegele, Noura Mebirouk, Nivonirina Robinot, Geoffroy Durand, Nathalie Forey, Robert N Luben, Shahana Ahmed, Kristiina Aittomäki, Hoda Anton-Culver, Volker Arndt, Australian Ovarian Cancer Study Group, Caroline Baynes, Matthias W Beckman, Javier Benitez, David Van Den Berg, William J Blot, Natalia V Bogdanova, Stig E Bojesen, Hermann Brenner, Jenny Chang-Claude, Kee Seng Chia, Ji-Yeob Choi, Don M Conroy, Angela Cox, Simon S Cross, Kamila Czene, Hatef Darabi, Peter Devilee, Mikael Eriksson, Peter A Fasching, Jonine Figueroa, Henrik Flyger, Florentia Fostira, Montserrat García-Closas, Graham G Giles, Gord Glendon, Anna González-Neira, Pascal Guénel, Christopher A Haiman, Per Hall, Steven N Hart, Mikael Hartman, Maartje J Hooning, Chia-Ni Hsiung, Hidemi Ito, Anna Jakubowska, Paul A James, Esther M John, Nichola Johnson, Michael Jones, Maria Kabisch, Daehee Kang, kConFab Investigators, Veli-Matti Kosma, Vessela Kristensen, Diether Lambrechts, Na Li, Lifepool Investigators, Annika Lindblom, Jirong Long, Artitaya Lophatananon, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Keitaro Matsuo, Alfons Meindl, Gillian Mitchell, Kenneth Muir, NBCS Investigators, Ines Nevelsteen, Ans van den Ouweland, Paolo Peterlongo, Sze Yee Phuah, Katri Pylkäs, Simone M Rowley, Suleeporn Sangrajrang, Rita K Schmutzler, Chen-Yang Shen, Xiao-Ou Shu, Melissa C Southey, Harald Surowy, Anthony Swerdlow, Soo H Teo, Rob A E M Tollenaar, Ian Tomlinson, Diana Torres, Thérèse Truong, Celine Vachon, Senno Verhoef, Michelle Wong-Brown, Wei Zheng, Ying Zheng, Heli Nevanlinna, Rodney J Scott, Irene L Andrulis, Anna H Wu, John L Hopper, Fergus J Couch, Robert Winqvist, Barbara Burwinkel, Elinor J Sawyer, Marjanka K Schmidt, Anja Rudolph, Thilo Dörk, Hiltrud Brauch, Ute Hamann, Susan L Neuhausen, Roger L Milne, Olivia Fletcher, Paul D P Pharoah, Ian G Campbell, Alison M Dunning, Florence Le Calvez-Kelm, David E Goldgar, Sean V Tavtigian, Georgia Chenevix-Trench
  • Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium
    Christine Fischer, Karoline Kuchenbäcker, Christoph Engel, Silke Zachariae, Kerstin Rhiem, Alfons Meindl, Nils Rahner, Nicola Dikow, Hansjörg Plendl, Irmgard Debatin, Tiemo Grimm, Dorothea Gadzicki, Ricarda Flöttmann, Judit Horvath, Evelin Schröck, Friedrich Stock, Dieter Schäfer, Ira Schwaab, Christiana Kartsonaki, Nasim Mavaddat, Brigitte Schlegelberger, Antonis C Antoniou, Rita Schmutzler, on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer
  • The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case–control study
    D Gareth Evans, Adam Brentnall, Helen Byers, Elaine Harkness, Paula Stavrinos, Anthony Howell, FH-risk study Group, William G Newman, Jack Cuzick
  • Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
    Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo

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