APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

被引:0
|
作者
Per Arne Andresen
Ketil Heimdal
Kristin Aaberg
Kristin Eklo
Sarah Ariansen
Alexandra Silye
Olav Fausa
Lars Aabakken
Stefan Aretz
Tor J. Eide
Tobias Gedde-Dahl
机构
[1] University Hospital of Oslo-Rikshospitalet,Pathology Division
[2] University Hospital of Oslo-Rikshospitalet,Department of Medical Genetics
[3] University Hospital of Northern Norway,Department of pathology
[4] University Hospital of Oslo-Rikshospitalet,Department of medicine
[5] University of Bonn,Institute of Human genetics
关键词
Adenomatous polyposis coli; Familial adenomatous polyposis; Novel mutations; Germline mutations; DHPLC;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:1463 / 1470
页数:7
相关论文
共 50 条
  • [21] EXON 8 APC MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS
    KOOREY, DJ
    MCCAUGHAN, GW
    TRENT, RJ
    GALLAGHER, ND
    [J]. GASTROENTEROLOGY, 1993, 104 (04) : A417 - A417
  • [22] Hepatoblastoma and APC gene mutation in familial adenomatous polyposis
    Giardiello, FM
    Petersen, GM
    Brensinger, JD
    Luce, MC
    Cayouette, MC
    Bacon, J
    Booker, SV
    Hamilton, SR
    [J]. GUT, 1996, 39 (06) : 867 - 869
  • [23] Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis
    Nielsen, M.
    Hes, F. J.
    Nagengast, F. M.
    Weiss, M. M.
    Mathus-Vliegen, E. M.
    Morreau, H.
    Breuning, M. H.
    Wijnen, J. T.
    Tops, C. M. J.
    Vasen, H. F. A.
    [J]. CLINICAL GENETICS, 2007, 71 (05) : 427 - 433
  • [24] Identification of APC exon 15 mutations in families suspected of familial adenomatous polyposis (FAP)
    Kirchhoff, T
    Zajac, V
    Krizan, P
    Repiska, V
    Stevurkova, V
    Friedl, W
    [J]. FOLIA BIOLOGICA, 1997, 43 (05) : 205 - 209
  • [25] Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309
    Wachsmannova-Matelova, L.
    Stevurkova, V.
    Adamcikova, Z.
    Holec, V.
    Zajac, V.
    [J]. NEOPLASMA, 2009, 56 (06) : 486 - 489
  • [26] Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis
    Zhang, Shujie
    Qin, Haisong
    Lv, Weigang
    Luo, Shiyu
    Wang, Jin
    Fu, Chunyun
    Ma, Ruiyu
    Shen, Yiping
    Chen, Shaoke
    Wu, Lingqian
    [J]. GENE, 2016, 577 (02) : 187 - 192
  • [27] Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis
    Liu, Qi
    Li, Xiaoxia
    Li, Sen
    Qu, Shengqiang
    Wang, Yu
    Tang, Qingzhu
    Ma, Hongwei
    Luo, Yang
    [J]. TUMOR BIOLOGY, 2016, 37 (08) : 11421 - 11427
  • [28] Attenuated familial adenomatous polyposis (AFAP) in a patient associated with a novel mutation in APC
    Sant, Vivek
    Reich, Elsa
    Khanna, Lauren
    Cao, Wenqing
    Kornacki, Susan
    Grucela, Alexis
    [J]. BMJ CASE REPORTS, 2019, 12 (11)
  • [29] Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis
    Janga, Yun Ha
    Lim, Seok-Byung
    Kim, Mi-Jung
    Chung, Hee-Jung
    Yoo, Han-Wook
    Byeon, Jeong-Sik
    Myung, Seung-Jae
    Lee, Woochang
    Chun, Sail
    Min, Won-Ki
    [J]. CANCER GENETICS AND CYTOGENETICS, 2010, 200 (01) : 34 - 39
  • [30] Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families
    Romero-Gimenez, Jordi
    Dopeso, Higinio
    Blanco, Ignacio
    Guerra-Moreno, Angel
    Gonzalez, Sara
    Vogt, Stefanie
    Aretz, Stefan
    Schwartz, Silmo, Jr.
    Capella, Gabriel
    Arango, Diego
    [J]. INTERNATIONAL JOURNAL OF CANCER, 2008, 122 (06) : 1422 - 1425