Ausgabe 1/2013
Inhalt (18 Artikel)
10 rare tumors that warrant a genetics referral
Kimberly C. Banks, Jessica J. Moline, Monica L. Marvin, Anna C. Newlin, Kristen J. Vogel
Catalysts to withdrawal from familial ovarian cancer screening for surgery and reactions to discontinued screening: a qualitative study
Kate J. Lifford, Alison Clements, Lindsay Fraser, Deborah Lancastle, Kate Brain
Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors
Isabelle Sourrouille, Florence Coulet, Jeremie H. Lefevre, Chrystelle Colas, Mélanie Eyries, Magali Svrcek, Armelle Bardier-Dupas, Yann Parc, Florent Soubrier
Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families
Lucie Schwarzová, Jitka Štekrová, Martina Florianová, Aleš Novotný, Michaela Schneiderová, Petr Lněnička, Věra Kebrdlová, Jaroslav Kotlas, Kamila Veselá, Milada Kohoutová
Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review
A. P. Knopperts, M. Nielsen, R. C. Niessen, C. M. J. Tops, B. Jorritsma, J. Varkevisser, J. Wijnen, C. L. E. Siezen, R. C. Heine-Bröring, H. J. van Kranen, Y. J. Vos, H. Westers, E. Kampman, R. H. Sijmons, F. J. Hes
Prospective enteroscopic evaluation of jejunal polyposis in patients with familial adenomatous polyposis and advanced duodenal polyposis
Y. A. Alderlieste, E. A. J. Rauws, E. M. H. Mathus-Vliegen, P. Fockens, E. Dekker
The spectrum of urological malignancy in Lynch syndrome
P. J. Barrow, S. Ingham, C. O’Hara, K. Green, I. McIntyre, F. Lalloo, J. Hill, D. G. Evans
Feasibility evaluation of an online tool to guide decisions for BRCA1/2 mutation carriers
Elizabeth A. Schackmann, Diego F. Munoz, Meredith A. Mills, Sylvia K. Plevritis, Allison W. Kurian
The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study
Sang-Ah Han, Sung-Won Kim, Eunyoung Kang, Sue K. Park, Sei-Hyun Ahn, Min Hyuk Lee, Seok-Jin Nam, Wonshik Han, Young Tae Bae, Hyun-Ah Kim, Young Up Cho, Myung Chul Chang, Nam Sun Paik, Ki-Tae Hwang, Sei Joong Kim, Dong-Young Noh, Doo Ho Choi, Woo-Chul Noh, Lee Su Kim, Ku Sang Kim, Young Jin Suh, Jeong Eon Lee, Yongsik Jung, Byung-In Moon, Jung-Hyun Yang, Byung Ho Son, Cha Kyong Yom, Sung Yong Kim, Hyde Lee, Sung Hoo Jung
An unusual BRCA mutation distribution in a high risk cancer genetics clinic
Anna C. Nelson-Moseke, Joanne M. Jeter, Haiyan Cui, Denise J. Roe, Setsuko K. Chambers, Christina M. Laukaitis
Multiple small “imaging” branch-duct type intraductal papillary mucinous neoplasms (IPMNs) in familial pancreatic cancer: indicator for concomitant high grade pancreatic intraepithelial neoplasia?
D. K. Bartsch, K. Dietzel, M. Bargello, E. Matthaei, G. Kloeppel, I. Esposito, J. T. Heverhagen, T. M. Gress, E. P. Slater, P. Langer
Psychosocial factors and uptake of risk-reducing salpingo-oophorectomy in women at high risk for ovarian cancer
Bettina Meiser, Melanie A. Price, Phyllis N. Butow, Janan Karatas, Judy Wilson, Louise Heiniger, Brandi Baylock, Margaret Charles, Sue-Anne McLachlan, Kelly-Anne Phillips
A novel missense mutation (N78D) in a family with von Hippel–Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts
S. Cingoz, R. B. van der Luijt, E. Kurt, M. Apaydin, I. Akkol, Mihriban Heval Ozgen
The deletion of exons 3–5 of BRCA1 is the first founder rearrangement identified in breast and/or ovarian cancer Spanish families
Sarai Palanca, Inmaculada de Juan, Gema Perez-Simó, Eva Barragán, Isabel Chirivella, Eduardo Martínez, Óscar Fuster, Pascual Bolufer
Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier
Shaheen Alanee, Sohela Shah, Rajmohan Murali, Rohini Rau-Murthy, Kasmintan A. Schrader, Kenneth Offit
Value of bilateral breast cancer for identification of rare recessive at-risk alleles: evidence for the role of homozygous GEN1 c.2515_2519delAAGTT mutation
Ekatherina Sh. Kuligina, Anna P. Sokolenko, Nathalia V. Mitiushkina, Svetlana N. Abysheva, Elena V. Preobrazhenskaya, Tatiana V. Gorodnova, Grigoriy A. Yanus, Alexandr V. Togo, Nadezhda V. Cherdyntseva, Svetlana A. Bekhtereva, J. Michael Dixon, Alexey A. Larionov, Sergey G. Kuznetsov, Evgeny N. Imyanitov