Single nucleotide polymorphisms in clinical genetic testing: The characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 573, Issue 1-2, 2005, Pages 168-179

  Judkins, Thaddeus ^a   Hendrickson, Brant C ^a   Deffenbaugh, Amie M ^a   Scholl, Thomas ^a  

^a Myriad Genetic Laboratories   (United States)

Author keywords

BRCA1; Genetic testing; Single nucleotide polymorphism

Indexed keywords

BRCA1 PROTEIN;

BREAST CANCER; CANCER RISK; CLINICAL RESEARCH; COST EFFECTIVENESS ANALYSIS; DNA SEQUENCE; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MEDICAL DECISION MAKING; NONHUMAN; NORTH AMERICA; OPEN READING FRAME; OVARY CANCER; PRIORITY JOURNAL; PROGNOSIS; REVIEW; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 17044371510     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2004.07.024     Document Type: Review

References (78)

1. Y. Miki, J. Swensen, D. Shattuck-Eidens, P.A. Futreal, K. Harshman, S. Tavtigian, Q. Liu, C. Cochran, L.M. Bennett, W. Ding, R. Bell, J. Rosenthal, C. Hussey, T. Tran, M. McClure, C. Frye, T. Hattier, R. Phelps, A. Haugen-Strano, H. Katcher, K. Yakumo, Z. Gholami, D. Shaffer, S. Stone, S. Bayer, C. Wray, R. Bogden, P. Dayananth, J. Ward, P. Tonin, S. Narod, P. Bristow, F.H. Norris, L. Helvering, P. Morrison, P. Rosteck, M. Lai, J.C. Barrett, C. Lewis, S. Neuhausen, L. Cannon-Albright, D. Goldgar, R. Wiseman, A. Kamb, and M.H. Skolnick A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 Science 266 1994 66 71
2. R. Wooster, G. Bignell, J. Lancaster, S. Swift, S. Seal, J. Mangion, N. Collins, S. Gregory, C. Gumbs, and G. Micklem Identification of the breast cancer susceptibility gene BRCA2 Nature 378 1995 789 792
3. S.V. Tavtigian, J. Simard, J. Rommens, F. Couch, D. Shattuck-Eidens, S. Neuhausen, S. Merajver, S. Thorlacius, K. Offit, D. Stoppa-Lyonnet, C. Belanger, R. Bell, S. Berry, R. Bogden, Q. Chen, T. Davis, M. Dumont, C. Frye, T. Hattier, S. Jammulapati, T. Janecki, P. Jiang, R. Kehrer, J.F. Leblanc, J.T. Mitchell, J. McArthur-Morrison, K. Nguyen, Y. Peng, C. Samson, M. Schroeder, S.C. Snyder, L. Steele, M. Stringfellow, C. Stroup, B. Swedlund, J. Swensen, D. Teng, A. Thomas, T. Tran, M. Tranchant, J. Weaver-Feldhaus, A.K.C. Wong, H. Shizuya, J.E. Eyfjord, L. Cannon-Albright, F. Labrie, M.H. Skolnick, B. Weber, A. Kamb, and D.E. Goldgar The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds Nat. Genet. 12 1996 333 337
4. J.P. Struewing, P. Hartge, S. Wacholder, S.M. Baker, M. Berlin, M. McAdams, M.M. Timmerman, L.C. Brody, and M.A. Tucker The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews N. Engl. J. Med. 336 1997 1401 1408
5. D. Ford, D.F. Easton, M. Stratton, S. Narod, D. Goldgar, P. Devilee, D.T. Bishop, B. Weber, G. Lenoir, J. Chang-Claude, H. Sobol, M.D. Teare, J. Struewing, A. Arason, S. Scherneck, J. Peto, T.R. Rebbeck, P. Tonin, S. Neuhausen, R. Barkardottir, J. Eyfjord, H. Lynch, B.A. Ponder, S.A. Gayther, M. Zelada-Hedman The Breast Cancer Linkage Consortium Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium Am. J. Hum. Genet. 62 1998 676 689
6. M.C. King, J.H. Marks, and J.B. Mandell Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2 Science 302 2003 643 646
7. S.K. Sharan, M. Morimatsu, U. Albrecht, D.S. Lim, E. Regel, C. Dinh, A. Sands, G. Eichele, P. Hasty, and A. Bradley Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2 Nature 386 1997 804 810
8. R. Scully, J. Chen, A. Plug, Y. Xiao, D. Weaver, J. Feunteun, T. Ashley, and D.M. Livingston Association of BRCA1 with Rad51 in mitotic and meiotic cells Cell 88 1997 265 275
9. J.J. Chen, D. Silver, S. Cantor, D.M. Livingston, and R. Scully BRCA1, BRCA2, and Rad51 operate in a common DNA damage response pathway Cancer Res. 59 1999 1752s 1756s
10. T.S. Frank, S.A. Manley, O.I. Olopade, S. Cummings, J.E. Garber, B. Bernhardt, K. Antman, D. Russo, M.E. Wood, L. Mullineau, C. Isaacs, B. Peshkin, S. Buys, V. Venne, P.T. Rowley, S. Loader, K. Offit, M. Robson, H. Hampel, D. Brener, E.P. Winer, S. Clark, B. Weber, L.C. Strong, and A. Thomas Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk J. Clin. Oncol. 16 1998 2417 2425
11. K.E. Malone, J.R. Daling, C. Neal, N.M. Suter, C. O'Brien, K. Cushing-Haugen, T.J. Jonasdottir, J.D. Thompson, and E.A. Ostrander Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases Cancer 88 2000 1393 1402
12. M.A. Unger, K.L. Nathanson, K. Calzone, D. Antin-Ozerkis, H.A. Shih, A.M. Martin, G.M. Lenoir, S. Mazoyer, and B.L. Weber Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation-sensitive gel electrophoresis or sequencing Am. J. Hum. Genet. 67 2000 841 850
13. E.M. Rohlfs, N. Puget, M.L. Graham, B.L. Weber, J.E. Garber, C. Skrzynia, J.L. Halperin, G.M. Lenoir, L.M. Silverman, and S. Mazoyer An Alu-mediated 7.1 kb deletion of BRCA1 exons 8 and 9 in breast and ovarian cancer families that results in alternative splicing of exon 10 Genes Chromosomes Cancer 28 2000 300 307
14. J.P. Struewing, D. Abeliovich, T. Peretz, N. Avishai, M.M. Kaback, F.S. Collins, and L.C. Brody The carrier frequency of the BRCA1185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals Nat. Genet. 11 1995 198 200
15. C. Oddoux, J.P. Struewing, C.M. Clayton, S. Neuhausen, L.C. Brody, M. Kaback, B. Haas, L. Norton, P. Borgen, S. Jhanwar, D. Goldgar, H. Ostrer, and K. Offit The carrier frequency of the BRCA26174delT mutation among Ashkenazi Jewish individuals is approximately 1% Nat. Genet. 14 1996 188 190
16. D. Abeliovich, L. Kaduri, I. Lerer, N. Weinberg, G. Amir, M. Sagi, J. Zlotogora, N. Heching, and T. Peretz The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women Am. J. Hum. Genet. 60 1997 505 514
17. C.I. Szabo, L.A. Wagner, L.V. Francisco, J.C. Roach, R. Argonza, M.C. King, and E.A. Ostrander Human, canine and murine BRCA1 genes: sequence comparison among species Hum. Mol. Genet. 5 1996 1289 1298
18. B.J. Orelli, J.M. Logsdon Jr., and D.K. Bishop Nine novel conserved motifs in BRCA1 identified by the chicken orthologue Oncogene 20 2001 4433 4438
19. S. Aparicio, J. Chapman, E. Stupka, N. Putnam, J.M. Chia, P. Dehal, A. Christoffels, S. Rash, S. Hoon, A. Smit, M.D. Gelpke, J. Roach, T. Oh, I.Y. Ho, M. Wong, C. Detter, F. Verhoef, P. Predki, A. Tay, S. Lucas, P. Richardson, S.F. Smith, M.S. Clark, Y.J. Edwards, N. Doggett, A. Zharkikh, S.V. Tavtigian, D. Pruss, M. Barnstead, C. Evans, H. Baden, J. Powell, G. Glusman, L. Rowen, L. Hood, Y.H. Tan, G. Elgar, T. Hawkins, B. Venkatesh, D. Rokhsar, and S. Brenner Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes Science 297 2002 1301 1310
20. S. Lafarge, and M.H. Montane Characterization of Arabidopsis thaliana ortholog of the human breast cancer susceptibility gene 1: AtBRCA1, strongly induced by gamma rays Nucleic Acids Res. 31 2003 1148 1155
21. S.A. Krum, J.E. Womack, and T.F. Lane Bovine BRCA1 shows classic responses to genotoxic stress but low in vitro transcriptional activation activity Oncogene 22 2003 6032 6044
22. S.J. Boulton, J.S. Martin, J. Polanowska, D.E. Hill, A. Gartner, and M. Vidal BRCA1/BARD1 orthologs required for DNA repair in Caenorhabditis elegans Curr. Biol. 14 2004 33 39
23. R. Hakem, J.L. de la Pompa, A. Elia, J. Potter, and T.W. Mak Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation Nat. Genet. 16 1997 298 302
24. R. Hakem, J.L. de la Pompa, C. Sirard, R. Mo, M. Woo, A. Hakem, A. Wakeham, J. Potter, A. Reitmair, F. Billia, E. Firpo, C.C. Hui, J. Roberts, J. Rossant, and T.W. Mak The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse Cell 85 1996 1009 1023
25. Q. Zhong, C.F. Chen, S. Li, Y. Chen, C.C. Wang, J. Xiao, P.L. Chen, Z.D. Sharp, and W.H. Lee Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response Science 285 1999 747 750
26. S.B. Cantor, D.W. Bell, S. Ganesan, E.M. Kass, R. Drapkin, S. Grossman, D.C. Wahrer, D.C. Sgroi, W.S. Lane, D.A. Haber, and D.M. Livingston BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function Cell 105 2001 149 160
27. T.I. Orban, B. Csokay, and E. Olah Sequence alterations can mask each other's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples Biotechniques 29 2000 94 98
28. C. Eng, L.C. Brody, T.M. Wagner, P. Devilee, J. Vijg, C. Szabo, S.V. Tavtigian, K.L. Nathanson, E. Ostrander, T.S. Frank The BIC Consortium Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1 J. Med. Genet. 38 2001 824 833
29. Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996, J. Clin. Oncol. 14 (1996) 1730-1736, (Discussion 1737-1740).
30. R. Braczkowski, E. Nowakowska-Zajdel, B. Zubelewicz, M. Muc-Wierzgon, and W. Romanowski Genetic testing for breast cancer susceptibility: Polish women's attitudes J. Exp. Clin. Cancer Res. 17 1998 299 302
31. M. Keller, R. Jost, M. Kadmon, H.P. Wullenweber, C.M. Haunstetter, F. Willeke, C. Jung, J. Gebert, C. Sutter, C. Herfarth, and M.W. Buchler Acceptance of and attitude toward genetic testing for hereditary nonpolyposis colorectal cancer: a comparison of participants and nonparticipants in genetic counseling Dis. Colon Rectum 47 2004 153 162
32. T.S. Frank, A.M. Deffenbaugh, J.E. Reid, M. Hulick, B.E. Ward, B. Lingenfelter, K.L. Gumpper, T. Scholl, S.V. Tavtigian, D.R. Pruss, and G.C. Critchfield Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals J. Clin. Oncol. 20 2002 1480 1490
33. L.S. Friedman, E.A. Ostermeyer, C.I. Szabo, P. Dowd, E.D. Lynch, S.E. Rowell, and M.C. King Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families Nat. Genet. 8 1994 399 404
34. L.H. Castilla, F.J. Couch, M.R. Erdos, K.F. Hoskins, K. Calzone, J.E. Garber, J. Boyd, M.B. Lubin, M.L. Deshano, L.C. Brody, F.S. Collins, and B. Weber Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer Nat. Genet. 8 1994 387 391
35. L.C. Wu, Z.W. Wang, J.T. Tsan, M.A. Spillman, A. Phung, X.L. Xu, M.C. Yang, L.Y. Hwang, A.M. Bowcock, and R. Baer Identification of a RING protein that can interact in vivo with the BRCA1 gene product Nat. Genet. 14 1996 430 440
36. J.E. Meza, P.S. Brzovic, M.C. King, and R.E. Klevit Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1 J. Biol. Chem. 274 1999 5659 5665
37. E.V. Koonin, S.F. Altschul, and P. Bork BRCA1 protein products. Functional motifs Nat. Genet. 13 1996 266 268
38. T. Huyton, P.A. Bates, X. Zhang, M.J. Sternberg, and P.S. Freemont The BRCA1 C-terminal domain: structure and function Mutat. Res. 460 2000 319 332
39. D. Ford, D.F. Easton, D.T. Bishop, S.A. Narod, and D.E. Goldgar Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium Lancet 343 1994 692 695
40. L.C. Verhoog, C.T. Brekelmans, C. Seynaeve, L.M. van den Bosch, G. Dahmen, A.N. van Geel, M.M. Tilanus-Linthorst, C.C. Bartels, A. Wagner, A. van den Ouweland, P. Devilee, E.J. Meijers-Heijboer, and J.G. Klijn Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1 Lancet 351 1998 316 321
41. A.M. Deffenbaugh, T.S. Frank, M. Hoffman, L. Cannon-Albright, and S.L. Neuhausen Characterization of common BRCA1 and BRCA2 variants Genet. Test. 6 2002 119 121
42. A. Osorio, M. de la Hoya, R. Rodriguez-Lopez, J.J. Granizo, O. Diez, A. Vega, M. Duran, A. Carracedo, M. Baiget, T. Caldes, and J. Benitez Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations Eur. J. Hum. Genet. 11 2003 489 492
43. T. Judkins, C. Schwensen, B.C. Hendrickson, H. Harpending, J. Barrus, and T. Scholl Automated Haplotyping in BRCA1 and localization of polymorphisms on alleles Am. J. Hum. Genet. 73 Suppl. 2003 409
44. B.C. Hendrickson, D. Pruss, E. Lyon, and T. Scholl Application of haplotype pair analysis for the identification of hemizygous loci J. Med. Genet. 40 2003 346 347
45. T. Scholl, M.T. Pyne, D. Russo, and B.E. Ward BRCA1 IVS16 + 6T → C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site Am. J. Med. Genet. 85 1999 113 116
46. M.T. Pyne, D. Pruss, B.E. Ward, and T. Scholl A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism Mutat. Res. 406 1999 101 107
47. M.A. Fleming, J.D. Potter, C.J. Ramirez, G.K. Ostrander, and E.A. Ostrander Understanding missense mutations in the BRCA1 gene: an evolutionary approach Proc. Natl. Acad. Sci. U.S.A. 100 2003 1151 1156
48. C.J. Ramirez, M.A. Fleming, J.D. Potter, G.K. Ostrander, and E.A. Ostrander Marsupial BRCA1: conserved regions in mammals and the potential effect of missense changes Oncogene 23 2004 1780 1788
49. S.L. Neuhausen, S. Mazoyer, L. Friedman, M. Stratton, K. Offit, A. Caligo, G. Tomlinson, L. Cannon-Albright, T. Bishop, D. Kelsell, E. Solomon, B. Weber, F. Couch, J. Struewing, P. Tonin, F. Durocher, S. Narod, M.H. Skolnick, G. Lenoir, O. Serova, B. Ponder, D. Stoppa-Lyonnet, D. Easton, M.C. King, and D.E. Goldgar Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study Am. J. Hum. Genet. 58 1996 271 280
50. D. Shattuck-Eidens, A. Oliphant, M. McClure, C. McBride, J. Gupte, T. Rubano, D. Pruss, S.V. Tavtigian, D.H. Teng, N. Adey, M. Staebell, K. Gumpper, R. Lundstrom, M. Hulick, M. Kelly, J. Holmen, B. Lingenfelter, S. Manley, F. Fujimura, M. Luce, B. Ward, L. Cannon-Albright, L. Steele, K. Offit, T. Gilewski, L. Norton, K. Brown, C. Schulz, H. Hampel, A. Schluger, E. Giulotto, W. Zoli, A. Ravaioli, H. Nevanlinna, S. Pyrhonen, P. Rowley, S. Loader, M.P. Osborne, M. Daly, I. Tepler, P.L. Weinstein, J.L. Scalia, R. Michaelson, R.J. Scott, P. Radice, M.A. Pierotti, J.E. Garber, C. Isaacs, B. Peshkin, M.E. Lippman, M.H. Dosik, M.A. Caligo, R.M. Greenstein, R. Pilarski, B. Weber, R. Burgemeister, T.S. Frank, M.H. Skolnick, and A. Thomas BRCA1 sequence analysis in women at high risk for susceptibility mutations: risk factor analysis and implications for genetic testing JAMA 278 1997 1242 1250
51. X. Liu, and D.F. Barker Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1 Am. J. Hum. Genet. 64 1999 1427 1439
52. M.J. Daly, J.D. Rioux, S.F. Schaffner, T.J. Hudson, and E.S. Lander High-resolution haplotype structure in the human genome Nat. Genet. 29 2001 229 232
53. P.E. Bonnen, P.J. Wang, M. Kimmel, R. Chakraborty, and D.L. Nelson Haplotype and linkage disequilibrium architecture for human cancer-associated genes Genome Res. 12 2002 1846 1853
54. L. Vigilant, M. Stoneking, H. Harpending, K. Hawkes, and A.C. Wilson African populations and the evolution of human mitochondrial DNA Science 253 1991 1503 1507
55. B.C. Hendrickson, D. Pruss, A.M. Deffenbaugh, D.R. Nielsen, C.A. Gaglio, and T. Scholl Identification of large genomic deletions in BRCA1 from patients with hereditary cancer risk using SNP haplotype pair analysis derived from clinical sequence data Am. J. Hum. Genet. 69 Suppl. 2001 263
56. B.D. Ward, B.C. Hendrickson, C.A. Gaglio, and T. Scholl Identification of a novel 26 kb deletion in BRCA1 by haplotype pair analysis Am. J. Hum. Genet. 71 Suppl. 2002 259
57. M. Montagna, M. Dalla Palma, C. Menin, S. Agata, A. De Nicolo, L. Chieco-Bianchi, and E. D'Andrea Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families Hum. Mol. Genet. 12 2003 1055 1061
58. M. Tancredi, E. Sensi, G. Cipollini, P. Aretini, G. Lombardi, C.D. Cristofano, S. Presciuttini, G. Bevilacqua, and M.A. Caligo Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 kbp deletion Eur. J. Hum. Genet. 26 May 2004 (Epub ahead of print)
59. B.C. Hendrickson, A.M. Deffenbaugh, C.A. Gaglio, T. Judkins, S. Chen, B.E. Ward, and T. Scholl Prevalence results for five recurrent BRCA1 rearrangement mutations in 7570 analyses Am. J. Hum. Genet. 73 Suppl. 2003 253
60. A. Catteau, C.F. Xu, M.A. Brown, S. Hodgson, J. Greenman, C.G. Mathew, A.M. Dunning, and E. Solomon Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions Br. J. Cancer. 79 1999 759 763
61. M. Boyd, F. Harris, R. McFarlane, H.R. Davidson, and D.M. Black A human BRCA1 gene knockout Nature 375 1995 541 542
62. B. Kuschel, S.A. Gayther, D.F. Easton, B.A. Ponder, and P.D. Pharoah Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing Genes Chromosomes Cancer 31 2001 96 98
63. L.C. Gowen, B.L. Johnson, A.M. Latour, K.K. Sulik, and B.H. Koller Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities Nat. Genet. 12 1996 191 194
64. A. Suzuki, J.L. de la Pompa, R. Hakem, A. Elia, R. Yoshida, R. Mo, H. Nishina, T. Chuang, A. Wakeham, A. Itie, W. Koo, P. Billia, A. Ho, M. Fukumoto, C.C. Hui, and T.W. Mak Brca2 is required for embryonic cellular proliferation in the mouse Genes Dev. 11 1997 1242 1252
65. T. Ludwig, D.L. Chapman, V.E. Papaioannou, and A. Efstratiadis Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos Genes Dev. 11 1997 1226 1241
66. N.G. Howlett, T. Taniguchi, S. Olson, B. Cox, Q. Waisfisz, C. De Die-Smulders, N. Persky, M. Grompe, H. Joenje, G. Pals, H. Ikeda, E.A. Fox, and A.D. D'Andrea Biallelic inactivation of BRCA2 in Fanconi anemia Science 297 2002 606 609
67. M.B. Shapiro, and P. Senapathy RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression Nucleic Acids Res. 15 1987 7155 7174
68. J.D. Hoffman, S.E. Hallam, V.L. Venne, E. Lyon, and K. Ward Implications of a novel cryptic splice site in the BRCA1 gene Am. J. Med. Genet. 80 1998 140 144
69. M. Lu, S.D. Conzen, C.N. Cole, and B.A. Arrick Characterization of functional messenger RNA splice variants of BRCA1 expressed in nonmalignant and tumor-derived breast cells Cancer Res. 56 1996 4578 4581
70. M.T. Pyne, A.R. Brothman, B. Ward, D. Pruss, B.C. Hendrickson, and T. Scholl The BRCA2 genetic variant IVS7 + 2T → G is a mutation J. Hum. Genet. 45 2000 351 357
71. J.D. Fackenthal, L. Cartegni, A.R. Krainer, and O.I. Olopade BRCA2 T2722R is a deleterious allele that causes exon skipping Am. J. Hum. Genet. 71 2002 625 631
72. J.D. Fackenthal, L. Cartegni, A.R. Krainer, and O.I. Olopade Errata: BRCA2 T2722R is a deleterious allele that causes exon skipping Am. J. Hum. Genet. 73 2003 1477
73. M. Robledo, A. Osorio, C. Sentis, J. Albertos, L. Estevez, and J. Benitez The 12 base pair duplication/insertion alteration could be a regulatory mutation J. Med. Genet. 34 1997 592 593
74. T. Scholl, M.T. Pyne, B. Ward, and D. Pruss Biochemical and genetic characterisation shows that the BRCA1 IVS20 insertion is a polymorphism J. Med. Genet. 36 1999 571 572
75. J.C. Keaton, D.R. Nielsen, B.C. Hendrickson, M.T. Pyne, L. Scheuer, B.E. Ward, A.R. Brothman, and T. Scholl A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A → C is a mutation J. Hum. Genet. 48 2003 399 403
76. V. Abkevich, A. Zharkikh, A.M. Deffenbaugh, D. Frank, Y. Chen, D. Shattuck, M.H. Skolnick, A. Gutin, and S.V. Tavtigian Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation J. Med. Genet. 41 2004 492 507
77. M.P. Miller, and S. Kumar Understanding human disease mutations through the use of interspecific genetic variation Hum. Mol. Genet. 10 2001 2319 2328
78. N.L. Tang, C.P. Pang, W. Yeo, K.W. Choy, P.K. Lam, M. Suen, L.K. Law, W.W. King, P. Johnson, and M. Hjelm Prevalence of mutations in the BRCA1 gene among Chinese patients with breast cancer J. Natl. Cancer. Inst. 91 1999 882 885