Issue 4/2020
Content (10 Articles)
Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients
Jeanine A. M. van der Giessen, Margreet G. E. M. Ausems, Maria E. T. C. van den Muijsenbergh, Sandra van Dulmen, Mirjam P. Fransen
Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report
Giovanni Grandi, Martina Caroli, Carlo Alboni, Laura Cortesi, Angela Toss, Elena Barbieri, Laura Botticelli, Fabio Facchinetti
Women’s responses and understanding of polygenic breast cancer risk information
T. Yanes, R. Kaur, B. Meiser, M. Scheepers-Joynt, S. McInerny, K. Barlow-Stewart, Y. Antill, L. Salmon, C. Smyth, P. A. James, M. A. Young
Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer
Pia Alhopuro, Reetta Vainionpää, Anna-Kaisa Anttonen, Kristiina Aittomäki, Heli Nevanlinna, Minna Pöyhönen
Highly aggressive thoracic desmoid tumors in adolescent siblings with fatal outcomes in an FAP kindred: a need for increased vigilance and intervention in at-risk AYAs
Mohamed M. Gad, Anne-Marie Langevin, Aaron J. Sugalski, Gail E. Tomlinson
Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family
Ciyu Yang, Margaret Sheehan, Ester Borras, Karen Cadoo, Kenneth Offit, Liying Zhang
MLH1 intronic variants mapping to + 5 position of splice donor sites lead to deleterious effects on RNA splicing
Tamara Alejandra Piñero, Omar Soukarieh, Marion Rolain, Karin Alvarez, Francisco López-Köstner, Giovana Tardin Torrezan, Dirce Maria Carraro, Ivana Lucia De Oliveira Nascimento, Thaís Ferreira Bomfim, Taísa Manuela Bonfim Machado-Lopes, Juliana Côrtes Freitas, Maria Betânia Toralles, Kiyoko Abe Sandes, Benedito Mauro Rossi, Samuel Aguiar Junior, Joanna Meira, Mev Dominguez-Valentin, Pål Møller, Carlos Alberto Vaccaro, Alexandra Martins, Walter Hernán Pavicic
Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics
B. Meiser, R. Kaur, J. Kirk, A. Morrow, M. Peate, W. K. T. Wong, E. McPike, E. Cops, C. Dowson, R. Austin, M. Fine, L. Thrupp, R. Ward, F. Macrae, J. E. Hiller, A. H. Trainer, G. Mitchell, R. Susman, N. Pachter, A. Goodwin, P. James, L. Mascarenhas, C. Morton, S. Shanley, M. A. Young, L. Andrews, E. A. Morrow, K. Tucker, G. Lindeman, M. Field, M. Monnik, N. Poplawski, M. Delatycki, T. John, M. Harris, R. Kerr, B. Vora
Cumulative risk of skin cancer in patients with Li-Fraumeni syndrome
S. A. Nieuwenburg, F. Adan, M. W. G. Ruijs, G. S. Sonke, M. E. van Leerdam, M. B. Crijns
Biallelic NF1 inactivation in high grade serous ovarian cancers from patients with neurofibromatosis type 1
Eliza Courtney, Sock Hoai Chan, Shao Tzu Li, Diana Ishak, Khurshid Merchant, Tarryn Shaw, Wen Yee Chay, Felicia Hui Xian Chin, Wai Loong Wong, Adele Wong, Joanne Ngeow