BRCA1 mutations in familial ovarian cancer

Molecular Genetics and Metabolism

Volumn 67, Issue 4, 1999, Pages 357-363

  Lallas, Thomas A ^a   Buekers, Thomas E ^a   Buller, Richard E ^a  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

Author keywords

BRCA1; Ovarian cancer; Somatic mutations; Tumor suppressor genes

Indexed keywords

BRCA1 PROTEIN; DNA;

ARTICLE; BREAST CARCINOMA; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; OVARY CANCER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; TUMOR SUPPRESSOR GENE;

FALLOPIA;

EID: 0032873057     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.1999.2871     Document Type: Article

References (32)

1. Miki Y, Swensen J, Shattuck-Eidens D, Futreal P A, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett L M, Ding W, Bell R, Rosenthal J, Hussey C, Tran T, McClure M, Frye C, Hattier T, Phelps R, Haugen-Strano A, Katcher H, Yakumo K, Gholami Z, Shaffer D, Stone S, Bayer S, Wray C, Bogden R, Dayananth P, Ward J, Tonin P, Narod S, Bristow P K, Norris F H, Helvering L, Morrison P, Rosteck P, Lai M, Barrett J C, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick M H. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science. 266:1994;66-71.
2. Narod S A, Ford D, Devilee P, Barkardottir R B, Lynch H T, Smith S A, Ponder B AJ, Weber B L, Garber J E, Birch J M, Cornelis R S, Kelsell D P, Spurr N K, Smyth E, Haites N, Sobol H, Bignon Y-J, Chang-Claude J, Hamann U, Lindblom A, Borg A, Piver M S, Gallion H H, Struewing J P, Whittemore A, Tonin P, Goldgar D E, Easton D F. An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Am J Hum Genet. 56:1995;254-264.
3. Steichen-Gersdorf E, Gallion H H, Ford D, Girodet C, Easton D F, DiCioccio R A, Evans G, Ponder M A, Pye C, Mazoyer S, Noguchi T, Karengueven F, Sobol H, Hardouin A, Bignon Y-J, Piver M S, Smith S A, Ponder B AJ. Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21. Am J Hum Genet. 55:1994;870-875.
4. Friedman L S, Ostermeyer E A, Szabo C I, Dowd P, Lynch E D, Rowell S E, King M-C. Nature Genet. 8:1994;399-404.
5. Merajver S D, Frank T S, Xu J, Pham T M, Calzone K A, Bennett-Baker P, Chamberlain J, Boyd J, Garber J E, Collins F S, Weber B L. Germline BRCA1 mutations and loss of the wild-type allele in tumors from families with early onset breast and ovarian cancer. Clin Cancer Res. 1:1995;539-544.
6. Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc J-F, Bélanger C, Dion F, Liu Q, Skolnick M, Goldgar D, Shttuck-Eidens D, Labrie F, Narod S A. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genet. 8:1994;392-398.
7. Castilla L H, Couch F J, Erdos M R, Hoskins K F, Calzone K, Garber J E, Boyd J, Lubin M B, Deshano Ml, Brody L C, Collins F S, Weber B L. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nature Genet. 8:1994;387-391.
8. Shattuck-Eidens D, McClure M, Simard J, Labrie F, Narod S, Couch F, Hoskins K, Weber B, Castilla L, Erdos M, Brody L, Friedman L, Ostermeyer E, Szabo C, King M-C, Jhanwar S, Offit K, Norton L, Gilewski T, Lubin M, Osborne M, Black D, Boyd M, Steel M, Ingles S, Haile R, Lindblom A, Olsson H, Borg A, Bishop D T, Solomon E, Radice Paolo, Spatti G, Gayther S, Ponder B, Warren W, Stratton M, Liu Q, Fujimura F, Lewis C, Skolnick M H, Goldgar D E. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. J Am Med Assoc. 273:1995;535-541.
9. Xu C-F, Chamber J A, Nicolai H, Brown M A, Hujeirat Y, Mohammed S, Hodgson S, Kelsell D P, Spurr N K, Bishop D T, Solomon E. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families. Genes, Chromosomes Cancer. 18:1997;102-110.
10. Takahaski H, Behbakht K, McGovern P E, Chiu H-C, Couch F J, Weber B L, Friedman L S, King M-C, Furusato M, LiVolsi V A, Menzin A W, Liu P C, Benjamin I, Morgan M A, King S A, Rebane B A, Cardonick A, Mikuta J J, Rubin S C, Boyd J. Mutation analysis of the BRCA1 gene in ovarian cancers. Cancer Res. 55:1995;2998-3002.
11. Matsushima M, Kobayashi K, Emi M, Saito H, Saito J, Suzumori K, Nakamura Y. Mutation analysis of the BRCA1 gene in 76 Japanese ovarian cancer patients: Four germline mutations, but no evidence of somatic mutation. Hum Mol Genet. 4:1995;1953-1956.
12. Couch F J, Weber B L. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat. 8:1996;8-18.
13. Stratton J F, Gayther S A, Russell P, Dearden S RN, Gore M, Blake P, Easton D, Ponder B AJ. Contribution of BRCA1 mutations to ovarian cancer. N Engl J Med. 336:1997;1125-1130.
14. Donehower L A, Bradley A. The tumor suppressor p53. Biochim Biophys Acta. 1155:1993;181-205.
15. Knudson A G Jr. Hereditary cancers: Clues to mechanisms of carcinogenesis. Br J Cancer. 59:1989;661-665.
16. Sasaki M, Okamoto M, Sato C, Sugio K, Soejima J-i, Iwama T, Ikeuchi T, Tonomura A, Miyaki M, Sasazuki T. Loss of constitutional heterozygosity in colorectal tumors from patients with familial polyposis coli and those with nonpolyposis colorectal carcinoma. Cancer Res. 49:1989;4402-4406.
17. Merajver S D, Pham T M, Caduff R F, Chen M, Poy E L, Cooney K A, Weber B L, Collins F S, Johnston C, Frank T S. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genet. 9:1995;439-443.
18. Hosking L, Trowdale J, Nicolai H, Solomon E, Foulkes W, Stamp G, Signer E, Jeffreys A. A somatic BRCA1 mutation in an ovarian tumour. Nature Genet. 9:1995;343-344.
19. Berchuck A, Heron K-A, Carney M E, Lancaster J M, Fraser E G, Vinson V L, Deffenbaugh A M, Miron A, Marks J R, Futreal P A, Frank T S. Frequency of germline and somatic BRCA1 mutations in ovarian cancer. Clin Cancer Res. 4:1998;2433-2437.
20. Greenman J, Mohammed S, Ellis D, Watts S, Scott G, Izatt L, Barnes D, Solomon E, Hodgson S, Mathew C. Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer. Gene Chromosomes Cancer. 21:1998;244-249.
21. Frank T S, Manley S A, Olopade O I, Cummings S, Garber J E, Bernhardt B, Antman K, Russo D, Wood M E, Mullineau L, Isaacs C, Peshkin B, Buys S, Venne V, Rowley P T, Loader S, Offit K, Robson M, Hampel H, Brener D, Winer E P, Clark S, Weber B, Strong L C, Rieger P, McClure M, Ward B E, Shattuck-Eidens D, Oliphant A, Skolnick M H, Thomas A. Sequence analysis of BRCA1 and BRCA2: Correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 6:1998;2417-2425.
22. Rubin S C, Benjamin I, Behbakht K, Takahashi H, Morgan M A, LiVolsi V A, Berchuck A, Muto M G, Garber J E, Weber B L, Lynch H T, Boyd J. Clinical and pathological features of ovarian cancer in women with germ-line mutations of BRCA1. N Engl J Med. 335:1996;1413-1416.
23. Holt J T, Thompson M E, Szabo C, Robinson-Benion C, Arteaga C L, King M-C, Jensen R A. Growth retardation and tumour inhibition by BRCA1. Nature Genet. 12:1996;298-302.
24. Buller R E, Skilling J S, Knowlton S, Fullenkamp C, Powills K, Sorosky J I, Anderson B. Estimating the prevalence of BRCA1-associated ovarian cancer: an initial screening strategy. Gynecol Oncol. 58:1995;407-408.
25. Lallas T A, Buller R E. Optimization of PCR and electrophoresis conditions enhances mutation analysis of the BRCA1 gene. Mol Genet Metab. 64:1998;173-176.
26. Skilling J S, Squatrito R C, Connor J P, Niemann T, Buller R E. p53 gene mutation analysis and antisense-mediated growth inhibition of human ovarian carcinoma cell lines. Gynecol Oncol. 60:1996;72-80.
27. Sambrook J, Fritsch E F, Maniatis T. Molecular Cloning: A Laboratory Manual. 1989;Cold Spring Harbor Laboratory Press, Cold Spring Harbor. p. 9.16-9.19.
28. Heller M J, Burgart L J, TenEyck C J, Anderson M E, Greiner T C, Robinson R A. Biotechniques. 11:1991;372-377.
29. Inoue R, Fukutomi T, Ushijima T, Matsumoto Y, Sugimura T, Nagao M. Germline mutation of BRCA1 in Japanese breast cancer families. Cancer Res. 55:1995;3521-3524.
30. Buller R E, Anderson B, Connor J P, Robinson R. Familial ovarian cancer. Gynecol Oncol. 51:1993;160-166.
31. Buller R E, Skilling J S, Sood A K, Plaxe S, Baergen R, Lager D J. Field cancerization: Why late recurrent ovarian cancer is not recurrent. Am J Obstet Gynecol. 178:1998;641-649.
32. Buller R E, Sood A, Fullenkamp C, Sorosky J, Powills K, Anderson B. The influence of the p53 codon 72 polymorphism on ovarian carcinogenesis and prognosis. Cancer Gene Ther. 4:1997;239-245.