Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas

Cancer Research

Volumn 56, Issue 23, 1996, Pages 5360-5364

  Goggins, Michael ^a   Sehutte, Mieke ^a   Lu, Jia ^a   Moskaluk, Christopher A ^a   Weinstein, Craig L ^a   Petersen, Gloria M ^a   Yeo, Charles J ^a   Jackson, Charles E ^b   Lynch, Henry T ^c   Hruban, Ralph H ^a   Kern, Scott E ^a  

^a DEPARTMENT OF PATHOLOGY   (United States)

^b HENRY FORD HOSPITAL   (United States)

^c CREIGHTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CANCER CELL CULTURE; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; PANCREAS ADENOCARCINOMA; PRIORITY JOURNAL;

ADENOCARCINOMA; ADULT; ALLELES; BRCA2 PROTEIN; CODON; DNA MUTATIONAL ANALYSIS; DNA, NEOPLASM; FEMALE; HETEROZYGOTE; HUMANS; JEWS; MALE; NEOPLASM PROTEINS; PANCREAS; PANCREATIC NEOPLASMS; PANCREATICODUODENECTOMY; SEQUENCE DELETION; TRANSCRIPTION FACTORS; TUMOR CELLS, CULTURED;

EID: 12644253827     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (34)

1. Boring, C. C., Squires, T. S., and Taong, T. Cancer statistics, 1993. CA Cancer J. Clin., 43: 7-26, 1993.
2. Hruban, R H., van Mansfeld, A. D. M. Offerhaus, G. J. van Weering, D. H. J., Allison, D. C., Goodman, S. N., Kensler, T. W., Bose, K. K., Cameron, J. L., and Bos, J. L K-ras oncogene activation in adenocarcinoma of the human pancreas. A study of 82 carcinomas using a combination of mutant-enriched polymerise chain reaction analysis and allele-specific oligonucleotide hybridization. Am. J. Pathol. 143: 545-554, 1993.
3. Almoguerra, C , Shibata, D., Forrester, K , Martin, J., Arnheim, N , and Perucho, M Most human carcinomas of the exocrine pancreas contain mutant c-K-ras genes. Cell, 55: 549-554, 1988
4. Redston, M. S., Caldas, C., Seymour, A. B., Hruban, R. H., da Costa, L. T., Yeo, C. J , and Kern, S E p53 mutations in pancreatic carcinoma and evidence of common involvement of homocopolymer tracts in DNA microdeletions. Cancer Res., 54. 3025-3033, 1994.
5. Caldas, C , Hahn, S A , da Costa, L. T., Redston, M. S , Schutte, M , Seymour, A. B., Weinstein, C. L , Hruban, R H , Yeo, C. J , and Kern, S. E. Frequent somatic mutations and homozygous deletions of the p16 (MTS1) gene in pancreatic adenocarcinoma Nat. Genet., 8. 27-32, 1994.
6. Hahn, S. A., Schutte, M , Hoque, A. T. M S , Moskaluk, C. A., deCosta, L. T , Rozenblum, E , Weinsten, C L., Fischer, A., Yeo, C J , Hruban, R. H, and Kern, S. E. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science (Washington DC), 271, 350-353, 1996.
7. Lynch, H T. Genetics and pancreatic cancer. Arch Surg., 129: 266-268, 1994
8. Lynch, H. T. Fusaro, L., and Lynch, J. F Familial pancreatic cancer: a family study. Pancreas, 7: 511-515, 1992.
9. Ghadirian, P , Boyle, P., Simard, A., Baillargeon Maisonneuve, P , and Perret, C. Reported family aggregation of pancreatic cancer within a population-based case-control study in the Francophone community in Montreal, Canada Int J Pancreatol , 10. 183-196, 1991.
10. ink4a and CDK4 mutations in familial pancreatic carcinoma. Hum. Mutat , in press, 1996.
11. ink4 mutations N Engl J. Med., 333: 970-974, 1995.
12. Lynch, H. T., Voorhees, G J , Lanspa, S J., McGreevy, P S , and Lynch, J F. Pancreatic carcinoma and hereditary nonpolyposis colorectal carcinoma: a family study. Br. J Cancer, 52. 271-273, 1985.
13. Wooster, R , Bignell, G , Lancaster, J., Swift, S , Seal, S., Manglon, J , Collns, N., Gregory, S., Gumbs, C., Micklem, G., Barfoot, R., Hamoudi, R., Patel, S., Rice, C., Biggs, P , Hashim, Y., Smith, A , Connor, F , Arason, A., Gudmundsson, J., Ficenec, D., Kelsell, D., Ford, D., Tonin, P., Bishop, D. T , Spurr, N K., Ponder, B. A J., Eeles, R., Peto, J , Devilee, P., Cornellisse, C., Lynch, H., Narod, S., Lenoir, G , Egilsson, V., Barkadottir, R B , Easton, D. F., Bentley, D R., Futreal, P A , Ashworth, A., and Stratton, M. R Identification of the breast cancer susceptibility gene BRCA2 Nature (Lond), 378. 789-792, 1995.
14. Wooster, R., Neuhausen, S. L., Mangion, J , Quirk, Y , Ford, D., Collins, N , Nguyen, K , Seal, S , Tran, T., Averill, D., Averill, D., Fields, P., Marshall, G., Narod, S , Lenoir, G M., Lynch, H , Feunteun, J., Devilee, P , Cornelisse, C J., Menko, F H , Daly, P A , Ormiston, W., McManus, R , Pye, C., Lewis, C. M., Cannon-Albright, L. A., Peto, J , Ponder, B. A J., Skolnick, M. H , Easton, F N., Douglas, F., Goldgar, D. E , and Stratton, M. R. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science (Washington DC), 265, 2088-2090, 1994
15. Schutte, M., da Costa, L. T., Hahn, S A., Moskaluk, C. A., Hoque, A. T M S , Rozenblum, E., Weinstein, C. L., Bittner, M., Meltzer, P. S., Trent, J. M., Yeo, C. J., Hruban, R H , and Kern, S. E Identification by representational differential analysis of a homozygous deletion in pancreatic carcinoma that lies within the BRCA2 region. Proc Natl Acad Sci. USA, 92: 5950-5954, 1995
16. Schutte, M , Rozenblum, E , Moskaluk, C A., Guan, X., Hoque, A. T. M., Hahn, S A., Da Costa, L. T , de Jong, P J , and Kern, S E An integrated high-resolution physical map of the DPC/BRCA2 region at chromosome 13q12 Cancer Res., 55 4570-4574, 1995
17. Tavtigian, S. V., Simard, J., Rommens, J., Couch, F., Shattuck, E. D , Neuhausen, S., Merajver, S , Thorlacius, S , Offit, K., Stoppa-Lyonnet, D , Belanger, C., Bell, R., Berry, S , Bogden, R., Chen, Q , Davis, T , Dumont, M , Frye, C., Hattier, T., Jammulapati, S., Janecki, T., Jiang, P., Kehrer, R , Leblanc, J. F., Mitchell, J. T., McArthur-Morrison, J , Nguyen, K., Peng, Y., Samson, C., Schroeder, M., Synder, S. C., Steele, L., Stringfellow, M., Stroup, C., Swedlund, B., Swensen, J., Teng, D., Thomas, A., Tran, T , Tran, T., Tranchant, M., Weaver-Feldhaus, J., Wong, A. K. C., Shizuya, H., Eyfjord, J. E., Cannon-Albright, L , Labrie, F., Skolnick, M. H., Weber, B , Kamb, A , and Goldgar, D. E. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat. Genet., 12: 333-337, 1996.
18. Thorlacius, S , Olafsdottir, G., Tryggvadottir, L., Neuhausen, S., Jonasson, J. G., Tavtigian, S. V , Tulinius, H., Ögmundsdottir, H. M., and Eyfjörd, J E. A single BRCA2 mutation in male and female breast carcinoma families from Iceland with varied cancer phenotypes Nat. Genet., 13: 117-119, 1996.
19. Phelan, C. M., Lancaster, J M., Tonin, P., Gumbs, C., Cochran, C , Carter, R , Ghadirian, P , Perret, C., Moslehi, R., Dion, F , Faucher, M-C , Dole, K., Karimi, S., Foulkes, W., Lounis, H , Warner, E., Goss, P., Anderson, D., Larsson, C , Narod, S. A., and Futreal, P. A. Mutation analysis of the SRCA2 gene in 49 site-specific breast cancer families Nat Genet , 13: 120-122, 1996.
20. Couch, F. J., Fand, L. M., DeShano, M. L , Tavtigian, S. V., Calzone, K , Campeau, L., Peng, Y., Bogden, B., Chen, Q , Neuhausen, S., Shattuck-Eidens, D , Godwin, A. K., Daly, M., Radford, D M , Sedlacek, S., Rommens, J., Simard, J., Garber, J., Merajver, S., and Weber, B. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet., 13: 123-125, 1996
21. Berman, D. B., Costalas, J., Schultz, D. C., Grana, G., Daly, M., and Godwin, A. K. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals. Cancer Res , 56: 3409-3414, 1996.
22. Chomczynski, P., and Sacchi, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem , 162: 156-159, 1987.
23. Hahn, S. A., Seymour, A. B., Hoque, A. T. M. S., Schutte, M., da Costa, L. T., Redston, M. S , Caldas, C , Weinsten, C. L., Fischer, A., Yeo, C J , Hruban, R. H., and Kern, S. E. Allelotype of pancreatic adenocarcinoma using xenograft enrichment. Cancer Res., 55: 4670-4675, 1995.
24. Powell, S. M., Petersen, G. M., Krush, A. J., Booker, S., Jen, J., Giardiello, F. M., Hamilton, S R., Vogelstein, B., and Kinzler, K. W. Molecular diagnosis of familial adenomatous polyposis. N. Engl. J Med., 329 1982-1987, 1993.
25. Schutte, M., Hruban, R. H., Hedrick, L., Cho, K. R., Nadasdy, G. M , Weinstein, C L , Bova, G. S., Isaacs, W B., Cairns, P , Nawroz, H., Sidransky, D., Casero, R A., Meltzer, P S., Hahn, S A , and Kern, S. E. DPC4 gene in various tumor types. Cancer Res., 56: 2527-2530, 1996.
26. Neuhausen, S., Gilweski, T., Norton, L., Tran, T., McGurie, P., Swensen, J., Hampel, H , Borgen, P., Brown, K , Skolnick, M , Shattuck-Eidens, D., Jhanuwar, S , Goldgar, D., and Offit, K. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer Nat. Genet., 13: 126-128, 1996.
27. Levy, D. B , Smith, K., J., Beazer-Barclay, Y., Hamilton, S. R , Vogelstein, B., and Kinzler, K. W. Inactivation of both APC alleles in human and mouse tumors Cancer Res , 54 5953-5958, 1994.
28. Teng, D. H -F, Bogden, R , Mitchell, J , Baumgard, M., Bell, R., Berry, S., Davis, T., Ha, P C., Kehrer, R., Jammulapati, S , Chen, Q , Offit, K., Skolnick, M H , Tavtigian, S. V , Jhanwar, S., Swedlund, B., Wong, A. K. C., and Kamb, A Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat. Genet., 13: 241-244, 1996
29. Takahashi, H., Chiu, H. C., Bandera, C. A., Behbakht, K., Liu, P. C., Couch, F J , Weber, B L , LiVolsi, V. A., Furusato, M., Rebane, B. A., Cardonick, A., Benjamin, I., Morgan, M. A., King, S. A., Mikuta, J. J., Rubin, S. C., and Boyd, J. Mutations of the BRCA2 gene in ovarian carcinomas, Cancer Res., 56: 2738-2741, 1996
30. Lancaster, J M , Wooster, R., Mangion, J., Phelan, C. M., Cochran, C., Gumbs, C , Seal Sbarfoot, R., Collins, N., Bignell, G., Patel, S., Hamoundi, R , Larsson, C , Wiseman, R W., Berchuck, A., Iglehart, J D , Marks, J. R., Ashworth, A., Stratton, M. R., and Futreal, P. A. BRCA2 mutations in primary breast and ovarian cancers. Nat. Genet., 13: 238-240, 1996.
31. Foster, K. A., Harrington, P., Kerr, J , Russell, P., DiCioccio, R A., Scott, I. V , Jacobs, I., Chenevix-Trench, G , Ponder, B. A. J , and Gayther, S. A. Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer. Cancer Res., 56, 3622-3625, 1996.
32. Miki, Y., Katagiri, T., Kasumi, F., Yoshimoto, T., and Nakamura, Y Mutation analysis in the BRCA2 gene in primary breast cancers. Nat. Genet., 13, 245-247, 1996
33. The American Society of Human Genetics Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition Am J. Hum Genet , 55. i-iv, 1994.
34. The American Society of Clinical Oncology. Genetic testing for cancer susceptibility J. Clin. Oncol., 14: 1730-1736, 1996.