Ausgabe 3/2014
Inhalt (23 Artikel)
Analysis of patient reports on the referral process to two NSW cancer genetic services
Grace I. Butel-Simoes, Allan D. Spigelman
“Would you test your children without their consent?” and other sticky dilemmas in the field of cancer genetic testing
Karina L. Brierley, Danielle C. Bonadies, Anne Moyer, Ellen T. Matloff
Limited diagnostic value of microsatellite instability associated pathology features in colorectal cancer
Paul G. van Putten, Margot G. F. van Lier, Mariska Hage, Katharina Biermann, Reinier H. van Rijssel, Pieter J. Westenend, Hans Morreau, Ewout W. Steyerberg, Winand N. M. Dinjens, Ernst J. Kuipers, Monique E. van Leerdam, J. Han van Krieken
Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations
Dai-Xiang Liao, Bing Li, Xue-Mei Du, Jun-Hui Yu, Hong Chang, Zhi-Qiang Wu, Hao-Jie Hao, You-Xin Wang, Wei-Dong Han, Shu-jun Cheng, Cheng-Hua Luo
Fertility and apparent genetic anticipation in Lynch syndrome
Douglas Stupart, Aung Ko Win, Mark Jenkins, Ingrid M. Winship, Paul Goldberg, Rajkumar Ramesar
An unusual case of familial adenomatous polyposis with very early symptom occurrence
Maurizio Ponz de Leon, Maria Anastasia Bianchini, Luca Reggiani-Bonetti, Monica Pedroni, Carmela Di Gregorio, Alberto Merighi, Giuseppina Rossi, Giulia Magnani, Federica Domati, Alfredo Cacciari
Evaluating the utilization of educational materials in communicating about Lynch syndrome to at-risk relatives
Kristen Dilzell, Kerry Kingham, Kelly Ormond, Uri Ladabaum
How harmful is genetic testing for familial adenomatous polyposis (FAP) in young children; the parents’ experience
Anna A. Kattentidt-Mouravieva, M. den Heijer, I. van Kessel, A. Wagner
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns
Iolanda Borelli, Guido C. Casalis Cavalchini, Serena Del Peschio, Monica Micheletti, Tiziana Venesio, Ivana Sarotto, Anna Allavena, Luisa Delsedime, Marco A. Barberis, Giorgia Mandrile, Paola Berchialla, Paola Ogliara, Cecilia Bracco, Barbara Pasini
Nucleotide variants of the cancer predisposing gene CDH1 and the risk of non-syndromic cleft lip with or without cleft palate
Kamil K. Hozyasz, Adrianna Mostowska, Piotr Wójcicki, Agnieszka Lasota, Barbara Offert, Adam Balcerek, Izabella Dunin-Wilczyńska, Paweł P. Jagodziński
Attitudes and compliance of clinical management after genetic testing for hereditary breast and ovarian cancer among high-risk Southern Chinese females with breast cancer history
Ava Kwong, Annie Tsz-Wai Chu, Christine Teen-Sum Wu, Desiree Man-Sik Tse
Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry
Xavier Gabaldó Barrios, María Desamparados Sarabia Meseguer, José Luis Alonso Romero, Miguel Marín Vera, Gema Marín Zafra, Pilar Sánchez Henarejos, Ana Isabel Sánchez Bermúdez, Francisco Ruiz Espejo
BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan
Ida Biunno, Gitana Aceto, Khalid Dafaallah Awadelkarim, Annalisa Morgano, Ahmed Elhaj, Elgaylani Abdalla Eltayeb, Dafalla Omer Abuidris, Nasr Eldin Elwali, Chiara Spinelli, Pasquale De Blasio, Ermanna Rovida, Renato Mariani-Costantini
BRCA1 founder mutations compared to ovarian cancer in Belarus
Alena Savanevich, Oleg Oszurek, Jan Lubiński, Cezary Cybulski, Tadeusz Dębniak, Steven A. Narod, Jacek Gronwald
Duplex value of caveolin-1 in non-small cell lung cancer: a meta analysis
Dali Chen, Cheng Shen, Heng Du, Yubin Zhou, Guowei Che
Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome
Erin E. Salo-Mullen, Jinru Shia, Isaac Brownell, Peter Allen, Monica Girotra, Mark E. Robson, Kenneth Offit, Jose G. Guillem, Arnold J. Markowitz, Zsofia K. Stadler
A family history questionnaire improves detection of women at risk for hereditary gynecologic cancer: a pilot study
Margot M. Koeneman, Arnold-Jan Kruse, Simone J. S. Sep, Cynthia S. Gubbels, Brigitte F. M. Slangen, Toon van Gorp, Alberto Lopes, Encarna Gomez-Garcia, Roy F. P. M. Kruitwagen
Intronic splicing mutations in PTCH1 cause Gorlin syndrome
Zaynab Bholah, Miriam J. Smith, Helen J. Byers, Emma K. Miles, D. Gareth Evans, William G. Newman
Influence of family history on psychosocial distress and perceived need for treatment in prostate cancer survivors
Andreas Dinkel, Marielouise Kornmayer, Jürgen E. Gschwend, Birgitt Marten-Mittag, Peter Herschbach, Kathleen Herkommer
A survey of the practice patterns of gynecologic oncologists dealing with hereditary cancer patients in Japan
Noriko Tanabe, Ayumi Shikama, Hiroko Bando, Toyomi Satoh, Chikako Shimizu
Exploring the association of succinate dehydrogenase complex mutations with lymphoid malignancies
R. Renella, J. Carnevale, K. A. Schneider, J. L. Hornick, H. Q. Rana, K. A. Janeway
Erratum to: Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India
Abhijit Chakraborty, Ashis Mukhopadhyay, Deboshree Bhattacharyya, Chinmoy Kr. Bose, Keya Choudhuri, Soma Mukhopadhyay, Jayasri Basak