Ausgabe 3/2021
Inhalt (11 Artikel)
The role of TP53 pathogenic variants in early-onset HER2-positive breast cancer
Carla Escudeiro, Carla Pinto, Joana Vieira, Ana Peixoto, Pedro Pinto, Manuela Pinheiro, Catarina Santos, Joana Guerra, Susana Lisboa, Rui Santos, João Silva, Conceição Leal, Nuno Coimbra, Paula Lopes, Marco Ferreira, Ana B. Sousa, Manuel R. Teixeira
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer
Leann A. Lovejoy, Seth K. Rummel, Clesson E. Turner, Craig D. Shriver, Rachel E. Ellsworth
Age at diagnosis of cancer in 185delAG BRCA1 mutation carriers of diverse ethnicities: tentative evidence for modifier factors
Yael Laitman, Rachel Michaelson-Cohen, Rakefet Chen-Shtoyerman, Yael Goldberg, Orit Reish, Rinat Bernstein-Molho, Ephrat Levy-Lahad, Noa Ephrat Ben Baruch, Inbal Kedar, D. Gareth Evans, Sara Haim, Shani Paluch-Shimon, Eitan Friedman
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes
Francesca Gensini, Roberta Sestini, Alessandro De Luca, Valentina Pinna, Paola Daniele, Lorenzo Orzalesi, Maria Cristina Petrella, Berardino Porfirio, Laura Papi
Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies
Monika Vyas, Canan Firat, Jaclyn F. Hechtman, Martin R. Weiser, Rona Yaeger, Chad Vanderbilt, Jamal K. Benhamida, Ajaratu Keshinro, Liying Zhang, Peter Ntiamoah, Marco Gonzalez, Rebecca Andrade, Imane El Dika, Arnold J. Markowitz, J. Joshua Smith, Julio Garcia-Aguilar, Efsevia Vakiani, David S. Klimstra, Zsofia K. Stadler, Jinru Shia
Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries
Mohammad Sina, Zeinab Ghorbanoghli, Amal Abedrabbo, Fahd Al-Mulla, Rihab Ben Sghaier, Marie-Pierre Buisine, George Cortas, Ladan Goshayeshi, Andreas Hadjisavvas, Wail Hammoudeh, Waseem Hamoudi, Carol Jabari, Maria A. Loizidou, Keivan Majidzadeh-A, Makia J. Marafie, Gurbankhan Muslumov, Laila Rifai, Rania Abu Seir, Suzan M. Talaat, Berrin Tunca, Hadia Ziada-Bouchaar, Mary E. Velthuizen, Ala I. Sharara, Aysel Ahadova, Demetra Georgiou, Hans F. A. Vasen
Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting
Holly Carwana, Elizabeth Hoodfar, JoAnn Bergoffen, Dan Li
FRAMe: Familial Risk Assessment of Melanoma—a risk prediction tool to guide CDKN2A germline mutation testing in Australian familial melanoma
Elizabeth A. Holland, Serigne Lo, Blake Kelly, Helen Schmid, Anne E. Cust, Jane M. Palmer, Martin Drummond, Nicholas K. Hayward, Antonia L. Pritchard, Graham J. Mann
Hereditary medullary thyroid carcinoma syndromes: experience from western India
Chakra Diwaker, Vijaya Sarathi, Sanjeet Kumar Jaiswal, Ravikumar Shah, Anuja Deshmukh, Anand Ebin Thomas, Gagan Prakash, Gaurav Malhotra, Virendra Patil, Anurag Lila, Nalini Shah, Tushar Bandgar
A novel germline variant in RET gene resulting in an additional cysteine in a family with familial medullary thyroid carcinoma
Josep Oriola, Aurora Sanchez, Blanca Paniello, Jordi Puig de la Bellacasa, Josefina Biarnés