A unique genealogical resource linked to phenotype data was created in Utah over 30 years ago. Here we review the history and content of this resource. In addition, we review three current methodologies used in conjunction with this resource to define the heritable contribution to phenotypes and to identify predisposition genes responsible for these phenotypes. Example analyses and high-risk pedigrees are presented. Finally we briefly review ways this resource, or others like it, may expand in future.
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- Family-based analysis
- High-risk pedigrees
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- Horne BD, Camp NJ, Muhlestein J, Cannon Albright LA: Evidence for a heritable component in death resulting from aortic and mitral valve diseases. Circulation 2004;110:3143–3148.
- Horne BD, Camp NJ, Muhlestein JB, Cannon Albright LA: Identification of excess clustering of coronary heart diseases among extended pedigrees in a genealogical population database. Am Heart J 2006;152:305–311.
- Goldfarb-Rumyantzev AS, Arsalan N, Habib AN, Wang BJ, Lin S, Baird B, Cheung AK, Cannon Albright LA: A Population-based assessment of the familial component of chronic kidney disease mortality. Am J Nephrol 2006;26:142–148.
- Allen-Brady K, Camp NJ, Ward JH, Cannon Albright LA: Lobular breast cancer: excess familiality observed in the Utah Population Database. Int J Cancer 2005;117:655–661.
- Cannon Albright LA, Schwab A, Camp NJ, Farnham JS, Thomas A: Population-based Risk Assessment for Other Cancers in Relatives of Hereditary Prostate Cancer (HPC) Cases. Prostate 2005a;64:347–355.
- Larson AA, Leachman SA, Eliason MJ, Cannon Albright LA: Population-based assessment of non-melanoma cancer risk in relatives of cutanceous melanoma probands. J Inv Derm 2006;127:183–188.
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- Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Kivlin J, Willard H, Nakamura Y, O’Connell P, Leppert M, White R, Skolnick MH: Gene for von Recklinhausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 1987;236:1100–1102.
- Atkin CL, Hasstedt SJ, Menlove L, Cannon Albright LA, Kirschner N, Schwartz C, Nguyen K, Kinkel L, Bruns G, Skolnick MH: Mapping of alport syndrome to the long arm of the X chromosome. Am J Hum Genet 1988;42:249–255.
- Cannon-Albright LA, Goldgar DE, Meyer LJ, Lewis CM, Anderson DE, Fountain JW, Hegi ME, Wiseman RW, Petty EM, Bale AE, Olopade OI, Diaz MO, Kwiatkowski DJ, Piepkorn MW, Zone JJ, Skolnick MH: Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-pss. Science 1992;258:1148–1152.
- Kamb A, Shattuck-Eidens D, Eeles R, Liu Q, Gruis NA, Ding W, Hussey C, Tran T, Miki Y, Weaver-Feldhaus J, McClure M, Aitken JF, Anderson DE, Bergman W, Frants R, Goldgar DE, Green A, MacLennan R, Martin NG, Meyer LJ, Youl P, Zone JJ, Skolnick MH, Cannon-Albright LA: Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nature Genet 1994;8:22–26.
- Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, Bell R, Rosenthal J, Husse 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 PK Norris FH, Helvering L, Morrison P, Rosteck P, Lai M, Barrett JC, Lewis C, Neuhausen S, Cannon-Albright L, Goldgar D, Wiseman R, Kamb A, Skolnick MH: A strong candidate for the 17q-linked breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66–71.
- Wooster R, Neuhausen S, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, Fields P, Marshall G, Narod S, Lenoir G, Lynch H, Feunteun J, Devilee P, Cornelisse CJ, Menko FH, Daly PA, Ormiston W, McManus R, Pye C, Lewis C, Cannon-Albright L, Peto J, Ponder BAJ, Skolnick MH, Easton DF, Goldgar De, Stratton MR: Localization of a breast cancer susceptibility gene (BRCA2) to chromosome 13q12–13. Science 1994;265:2088–2090.
- Tavtigian SV, Simard J, Rommens J, Shattuck-Ediens D, Couch F, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Bery S, Bodgen R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Anecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, Peng Y, Samson C, Schroeder M, Snyder S, Stringfellw M, Stroup C,Swedlund B, Swensen J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AKC, Shizuya H, Eyfjord JE, Cannon-Albright L, Labrie F, Skolnick M, Weber B, Kamb A, Goldgar DE: The complete BRCA2 gene and mutations in 13q-linked kindreds. Nature Genet 1996;12:333–337.
- Tavtigian SV, Simard J, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dyananth P, Desrochers M, Dumont M, Farnham MJ, Frand D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt Am Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Teterson KT, Reid JE, Richards S, Schroider M, Smith R, Snyder SC, Swedlund B, Swensen J, Teng DHF, Thomas A, Tranchant M, Woodland A-M, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA: A strong candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 2001;27:172–180.
- Easton DF, Schaid DJ, Whittemore AS, Isaacs WJ; International Consortium for Prostate Cancer Genetics. Where are the prostate cancer genes? – A summary of eight genome wide searches. Prostate 2003;57:261–269.
- Cannon Albright LA, Farnham JM, Thomas A, Camp NJ: Identification and study of Utah pseudo-isolate populations – prospects for gene identification. Am J Med Genet 2005;137:269–275.
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- Farnham JM, Camp NJ, Swensen J, Tavtigian SV, Cannon Albright LA: Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees. Hum Genet 2005;116:179–185.
- Camp NJ, Farnham JM, Cannon Albright LA: Genomic search for prostate cancer predisposition loci in Utah pedigrees. Prostate 2005;65:365–374.
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- Christensen GB, Camp NJ, Farnham JM, Cannon Albright LA: Genome wide linkage analysis for aggressive prostate cancer in Utah high risk pedigrees. Prostate, in press.
- Neuhausen SL, Farnham JM, Kort E, Tavtigian SV, Skolnick MH, Cannon Albright LA: Prostate cancer susceptibility locus HPC1 in Utah high-risk families. Hum Mol Genet 1999;8: 2437–2442.
- Thomas A, Skolnick MH, Lewis CM: Genomic mismatch scanning in pedigrees. IMA J Math Appl Med Biol 1994;11:1–16.
Lisa A. Cannon Albright, PhD
Division of Genetic Epidemiology
391 Chipeta Way, Suite D
Salt Lake City, UT 84108 (USA)
Tel. +1 801 587 9300, Fax +1 801 581 6052, E-Mail email@example.com
Received: April 20, 2007
Accepted after revision: July 30, 2007
Published online: Decembre 11, 2007
Number of Print Pages : 12
Number of Figures : 6, Number of Tables : 6, Number of References : 42
Human Heredity (International Journal of Human and Medical Genetics)
Vol. 65, No. 4, Year 2008 (Cover Date: January 2008)
Journal Editor: Devoto, M. (Philadelphia, Pa.)
ISSN: 0001–5652 (Print), eISSN: 1423–0062 (Online)
For additional information: http://www.karger.com/HHE
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