Germline mutations causing familial lung cancer

Journal of Human Genetics

Volumn 60, Issue 10, 2015, Pages 597-603

  Tomoshige, Koichi ^a   Matsumoto, Keitaro ^a   Tsuchiya, Tomoshi ^a   Oikawa, Masahiro ^a   Miyazaki, Takuro ^a   Yamasaki, Naoya ^a   Mishima, Hiroyuki ^a   Kinoshita, Akira ^a   Kubo, Toru ^b   Fukushima, Kiyoyasu ^b   Yoshiura, Koh Ichiro ^a   Nagayasu, Takeshi ^a  

^a NAGASAKI UNIVERSITY GRADUATE SCHOOL OF BIOMEDICAL SCIENCES   (Japan)

^b JAPANESE RED CROSS SOCIETY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENAL CANCER; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CACNB2 GENE; CANCER PATIENT; CANCER SUSCEPTIBILITY; CENPE GENE; CLEAR CELL CARCINOMA; CLINICAL ARTICLE; COLON CANCER; CONTROLLED STUDY; EXON; FAMILIAL CANCER; FEMALE; GENE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GERMLINE MUTATION; GOUT; HEREDITY; HETEROZYGOSITY LOSS; HUMAN; INDEL MUTATION; INTERSTITIAL PNEUMONIA; KIDNEY CARCINOMA; LCT GENE; LUNG ADENOCARCINOMA; LUNG ALVEOLUS CELL CARCINOMA; LUNG CANCER; LUNG CARCINOGENESIS; MALE; MAST1 GENE; MIDDLE AGED; MOSAICISM; MULTIPLE CANCER; NONSENSE MUTATION; ONSET AGE; OVARY CANCER; SOMATIC MUTATION; AGED; EXOME; GENETICS; LUNG TUMOR; PEDIGREE;

TUMOR PROTEIN;

ADULT; AGED; EXOME; FEMALE; GERM-LINE MUTATION; HUMANS; LUNG NEOPLASMS; MALE; MIDDLE AGED; NEOPLASM PROTEINS; PEDIGREE;

EID: 84945294506     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.75     Document Type: Article

References (31)

1. Nagy, R., Sweet, K.& Eng, C. Highly penetrant hereditary cancer syndromes. Oncogene 23, 6445-6470 (2004).
2. Amos, C. I., Pinney, S. M., Li, Y., Kupert, E., Lee, J., de Andrade, M. A. et al. A susceptibility locus on chromosome 6q greatly increases lung cancer risk among light and never smokers. Cancer Res. 70, 2359-2367 (2010).
3. Hung, R. J., McKay, J. D., Gaborieau, V., Boffetta, P., Hashibe, M., Zaridze, D. et al. A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature 452, 633-637 (2008).
4. Lynch, T. J., Bell, D. W., Sordella, R., Gurubhagavatula, S., Okimoto, R. A., Brannigan, B. W. et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350, 2129-2139 (2004).
5. Riely, G. J., Marks, J.& Pao, W. KRAS mutations in non-small cell lung cancer. Proc. Am. Thorac. Soc. 6, 201-205 (2009).
6. Yamamoto, H., Higasa, K., Sakaguchi, M., Shien, K., Soh, J., Ichimura, K. et al. Novel germline mutation in the transmembrane domain of HER2 in familial lung adenocarcinomas. J. Natl Cancer Inst. 106, djt338 (2014).
7. Soda, M., Choi, Y. L., Enomoto, M., Takada, S., Yamashita, Y., Ishikawa, S. et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature 448, 561-566 (2007).
8. Liu, Y., Liu, P., Wen, W., James, M. A., Wang, Y., Bailey-Wilson, J. E. et al. Haplotype and cell proliferation analyses of candidate lung cancer susceptibility genes on chromosome 15q24-25. 1. Cancer Res. 69, 7844-7850 (2009).
9. Liu, P., Vikis, H. G., Wang, D., Lu, Y., Wang, Y., Schwartz, A. G. et al. Familial aggregation of common sequence variants on 15q24-25. 1 in lung cancer. J. Natl Cancer Inst. 100, 1326-1330 (2008).
10. Fang, S., Pinney, S. M., Bailey-Wilson, J. E., de Andrade, M. A., Li, Y., Kupert, E. et al. Ordered subset analysis identifies loci influencing lung cancer risk on chromosomes 6q and 12q. Cancer Epidemiol. Biomarkers Prev. 19, 3157-3166 (2010).
11. Bailey-Wilson, J. E., Amos, C. I., Pinney, S. M., Petersen, G. M., de Andrade, M., Wiest, J. S. et al. A major lung cancer susceptibility locus maps to chromosome 6q23-25. Am. J. Hum. Genet. 75, 460-474 (2004).
12. You, M., Wang, D., Liu, P., Vikis, H., James, M., Lu, Y. et al. Fine mapping of chromosome 6q23-25 region in familial lung cancer families reveals RGS17 as a likely candidate gene. Clin. Cancer Res. 15, 2666-2674 (2009).
13. Liu, P., Vikis, H. G., Lu, Y., Wang, Y., Schwartz, A. G., Pinney, S. M. et al. Cumulative effect of multiple loci on genetic susceptibility to familial lung cancer. Cancer Epidemiol. Biomarkers Prev. 19, 517-524 (2010).
14. Wang, Y., Kuan, P. J., Xing, C., Cronkhite, J. T., Torres, F., Rosenblatt, R. L. et al. Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer. Am. J. Hum. Genet. 84, 52-59 (2009).
15. McKenna, A., Hanna, M.& Banks, E. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20, 1297-1303 (2010).
16. DePristo, M. A., Banks, E., Poplin, R., Garimella, K. V., Maguire, J. R., Hartl, C. et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat. Genet. 43, 491-498 (2011).
17. Van der Auwera, G. A., Carneiro, M. O., Hartl, C., Poplin, R., del Angel, G., Levy-Moonshine, A. et al. From FastQ data to high-confidence variant calls: The Genome Analysis Toolkit best practices pipeline. Curr. Protoc. Bioinformatics 11, 1011. 10. 1-11. 10. 33 (2013).
18. Wang, K., Li, M.& Hakonarson, H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 38, e164 (2010).
19. Tsai,M.-F., Lin, Y.-J., Cheng, Y.-C., Lee, K.-H., Huang, C.-C., Chen, Y.-T. et al. PrimerZ: streamlined primer design for promoters, exons and human SNPs. Nucleic Acids Res. 35, W63-W65 (2007).
20. Untergasser, A., Nijveen, H., Rao, X., Bisseling, T., Geurts, R.& Leunissen, J. A. Primer3Plus, an enhanced web interface to Primer3. Nucleic Acids Res. 35, W71-W74 (2007).
21. Christensen, J. G., Burrows, J.& Salgia, R. c-Met as a target for human cancer and characterization of inhibitors for therapeutic intervention. Cancer Lett. 225, 1-26 (2005).
22. Davis, I. J., McFadden, A. W., Zhang, Y., Coxon, A., Burgess, T. L., Wagner, A. J. et al. Identification of the receptor tyrosine kinase c-Met and its ligand, hepatocyte growth factor, as therapeutic targets in clear cell sarcoma. Cancer Res. 70, 639-645 (2010).
23. Pao, W.& Girard, N. New driver mutations in non-small-cell lung cancer. Lancet Oncol. 12, 175-180 (2011).
24. Amos, C. I., Wu, X., Broderick, P., Gorlov, I. P., Gu, J., Eisen, T. et al. Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25. 1. Nat. Genet. 40, 616-622 (2008).
25. McKay, J. D., Hung, R. J., Gaborieau, V., Boffetta, P., Chabrier, A., Byrnes, G. et al. Lung cancer susceptibility locus at 5p15. 33. Nat Genet. 40, 1404-1406 (2008).
26. Wang, Y., Broderick, P., Webb, E., Wu, X., Vijayakrishnan, J., Matakidou, A. et al. Common 5p15. 33 and 6p21. 33 variants influence lung cancer risk. Nat. Genet. 40, 1407-1409 (2008).
27. Valiente, M., Andrés-Pons, A., Gomar, B., Torres, J., Gil, A., Tapparel, C. et al. Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases. J. Biol. Chem. 280, 28936-28943 (2005).
28. Robinson, D. R., Kalyana-Sundaram, S., Wu, Y.-M., Shankar, S., Cao, X., Ateeq, B. et al. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nat. Med. 17, 1646-1651 (2011).
29. Wood, K. W., Lad, L., Luo, L., Qian, X., Knight, S. D., Nevins, N. et al. Antitumor activity of an allosteric inhibitor of centromere-associated protein-E. Proc. Natl Acad. Sci. USA 107, 5839-5844 (2010).
30. Mirzaa, G. M., Vitre, B., Carpenter, G., Abramowicz, I., Gleeson, J. G., Paciorkowski, A. R. et al. Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. Hum. Genet. 133, 1023-1039 (2014).
31. Bácsi, K., Hitre, E., Kósa, J. P., Horváth, H., Lazáry, A., Lakatos, P. L. et al. Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population. BMC Cancer 8, 317 (2008).