Somatic mutations and germline sequence variants in patients with familial colorectal cancer

International Journal of Cancer

Volumn 127, Issue 12, 2010, Pages 2974-2980

  Gylfe, Alexandra E ^a   Sirkia, Johanna ^a   Ahlsten, Manuel ^a   Jarvinen, Heikki ^b   Karhu, Auli ^a   Mecklin, Jukka Pekka ^c   Aaltonen, Lauri A ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c Jyv Central Hospital   (Finland)

Author keywords

CAN genes; Colorectal cancer; Familial; Germline; Susceptibility

Indexed keywords

DNA; EPHRIN RECEPTOR B6; PHOSPHATIDYLINOSITOL 3 KINASE; RNA;

AGED; ARTICLE; C10 ORF 137 GENE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; CSMD 3 GENE; EPHB 6 GENE; FBXW 7 GENE; FEMALE; GENE SEQUENCE; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOTYPE; HEREDITARY COLORECTAL CANCER; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PIK 3 CA GENE; PRIORITY JOURNAL; SOMATIC MUTATION; SPLICING DEFECT; TUMOR GENE;

AGED; CASE-CONTROL STUDIES; COLON; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA, NEOPLASM; FEMALE; GENETIC VARIATION; GERM-LINE MUTATION; HUMANS; MALE; MEMBRANE PROTEINS; PEDIGREE; PROGNOSIS; PROSPECTIVE STUDIES; RECEPTOR PROTEIN-TYROSINE KINASES; RECTUM; TUMOR MARKERS, BIOLOGICAL;

EID: 78249265345     PISSN: 00207136     EISSN: 10970215     Source Type: Journal    
DOI: 10.1002/ijc.25529     Document Type: Article

References (25)

1. Jemal A, Siegel R, Ward E, Hao Y, Xu J, Thun MJ,. Cancer Statistics, 2009. CA Cancer J Clin 2009; 59: 225 -49.
2. Lichtenstein P, Holm NV, Verkasalo PK, Iliadou A, Kaprio J, Koskenvuo M, Pukkala E, Skytthe A, Hemminki K,. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med 2000; 343: 78 -85.
3. Aaltonen LA, Johns L, Jarvinen H, Mecklin JP, Houlston R,. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin Cancer Res 2007; 13: 356 -61.
4. Sjöblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, et al. The consensus coding sequences of human breast and colorectal cancers. Science 2006; 314: 268 -74.
5. Wood LD, Parsons DW, Jones S, Lin J, Sjöblom T, Leary RJ, Shen D, Boca SM, Barber T, Ptak J, Silliman N, Szabo S, et al. The genomic landscapes of human breast and colorectal cancers. Science 2007; 318: 1108 -13.
6. Futreal PA, Coin L, Marshall M, Down T, Hubbard T, Wooster R, Rahman N, Stratton MR,. A census of human cancer genes. Nat Rev Cancer 2004; 4: 177 -83.
7. Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomki P, Chadwick RB, K;inen H, Eskelinen M, Jarvinen H, Mecklin JP, de la Chapelle A,. Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med 1998; 338: 1481 -7.
8. Salovaara R, Loukola A, Kristo P, Kriinen H, Ahtola H, Eskelinen M, H;rkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol 2000; 18: 2193 -200.
9. Samuels Y, Wang Z, Bardelli A, Silliman N, Ptak J, Szabo S, Yan H, Gazdar A, Powell SM, Riggins GJ, Willson JK, Markowitz S, et al. High frequency of mutations of the PIK3CA gene in human cancers. Science 2004; 304: 554.
10. Akhoondi S, Sun D, von der Lehr N, Apostolidou S, Klotz K, Maljukova A, Cepeda D, Fiegl H, Dafou D, Marth C, Mueller-Holzner E, Corcoran M, et al. FBXW7/hCDC4 is a general tumor suppressor in human cancer. Cancer Res 2007; 67: 9006 -12.
11. Velho S, Oliveira C, Ferreira A, Ferreira AC, Suriano G, Schwartz S Jr, Duval A, Carneiro F, Machado JC, Hamelin R, Seruca R,. The prevalence of PIK3CA mutations in gastric and colon cancer. Eur J Cancer 2005; 41: 1649 -54.
12. Ollikainen M, Gylling A, Puputti M, Nupponen NN, Abdel-Rahman WM, Butzow R, Peltomaki P,. Patterns of PIK3CA alterations in familial colorectal and endometrial carcinoma. Int J Cancer 2007; 121: 915 -20.
13. Ikenoue T, Kanai F, Hikiba Y, Obata T, Tanaka Y, Imamura J, Ohta M, Jazag A, Guleng B, Tateishi K, Asaoka Y, Matsumura M, et al. Functional analysis of PIK3CA gene mutations in human colorectal cancer. Cancer Res 2005; 65: 4562 -7.
14. Kang S, Bader AG, Vogt PK,. Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. Proc Natl Acad Sci U S A 2005; 102: 802 -7.
15. Koepp DM, Schaefer LK, Ye X, Keyomarsi K, Chu C, Harper JW, Elledge SJ,. Phosphorylation-dependent ubiquitination of cyclin E by the SCFFbw7 ubiquitin ligase. Science 2001; 294: 173 -7.
16. Yada M, Hatakeyama S, Kamura T, Nishiyama M, Tsunematsu R, Imaki H, Ishida N, Okumura F, Nakayama K, Nakayama KI,. Phosphorylation-dependent degradation of c-Myc is mediated by the F-box protein Fbw7. EMBO J 2004; 23: 2116 -25.
17. Rajagopalan H, Jallepalli PV, Rago C, Velculescu VE, Kinzler KW, Vogelstein B, Lengauer C,. Inactivation of hCDC4 can cause chromosomal instability. Nature 2004; 428: 77 -81.
18. Welcker M, Clurman BE,. FBW7 ubiquitin ligase: a tumour suppressor at the crossroads of cell division, growth and differentiation. Nat Rev Cancer 2008; 8: 83 -93.
19. Kemp Z, Rowan A, Chambers W, Wortham N, Halford S, Sieber O, Mortensen N, von Herbay A, Gunther T, Ilyas M, Tomlinson I,. CDC4 mutations occur in a subset of colorectal cancers but are not predicted to cause loss of function and are not associated with chromosomal instability. Cancer Res 2005; 65: 11361 -6.
20. Spruck CH, Strohmaier H, Sangfelt O, Maller HM, Hubalek M, Maller-Holzner E, Marth C, Widschwendter M, Reed SI,. hCDC4 gene mutations in endometrial cancer. Cancer Res 2002; 62: 4535 -9.
21. Brantjes H, Barker N, van Es J, Clevers H,. TCF: Lady Justice casting the final verdict on the outcome of Wnt signalling. Biol Chem 2002; 383: 255 -61.
22. Shimizu Y, Ikeda S, Fujimori M, Kodama S, Nakahara M, Okajima M, Asahara T,. Frequent alterations in the Wnt signaling pathway in colorectal cancer with microsatellite instability. Genes Chromosomes Cancer 2002; 33: 73 -81.
23. Duval A, Rolland S, Tubacher E, Bui H, Thomas G, Hamelin R,. The human T-cell transcription factor-4 gene: structure, extensive characterization of alternative splicings, and mutational analysis in colorectal cancer cell lines. Cancer Res 2000; 60: 3872 -9.
24. Fox BP, Kandpal RP,. EphB6 receptor significantly alters invasiveness and other phenotypic characteristics of human breast carcinoma cells. Oncogene 2009; 28: 1706 -13.
25. Bleeker FE, Lamba S, Rodolfo M, Scarpa A, Leenstra S, Vandertop WP, Bardelli A,. Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes. Hum Mutat 2009; 30: E451 -9.