Gene	Location	Clinical Testing	Proposed Phenotype	Comments
BRCA1 (OMIM) [92,96-102,115,137,138]	17q21	Available	Younger age at prostate cancer diagnosis (<65 years); earlier age at diagnosis among carriers of Ashkenazi founder mutations.	There is some evidence that men with a BRCA1 mutation may develop prostate cancer at an earlier age.
BRCA2 (OMIM) [94-98,100-105,138]	13q12-13	Available	Younger age at prostate cancer diagnosis (<65 years); earlier age at diagnosis among carriers of Ashkenazi founder mutations.	Prostate cancer risk may be lower among men with a mutation in the central region of the BRCA2 gene.
RNASEL (OMIM) [20-38,139]	1q24-25	Not available	Unknown	Rare and common RNASEL variants may contribute to a proportion of familial prostate cancer cases.
				RNASEL is a candidate gene for HPC1 (Table 2).
ELAC2/HPC2 (OMIM) [58-63,139]	17p	Not available	Unknown	Infrequent deleterious mutations identified in HPC families in follow-up reports.
MSR1 (OMIM) [69,70,74,123,139]	8p22	Not available	Unknown	In a genomic region commonly deleted in prostate cancer.
NBS1 (OMIM) [127,131]	8q21	Available	Increased prostate cancer risk in heterozygotes.	Infrequent NBS1 mutations, including founder 657del5 variant, in follow-up study.
CHEK2 (OMIM) [132,134,135]	22q12.1	Available	Unknown	Value of clinical testing for mutations in CHEK2 for prostate cancer risk is not established.
KLF6 (OMIM) [120-123,140]	10p15	Not available	Younger age at prostate cancer diagnosis (<65 years).
AMACR (OMIM) [124-126]	5p13.2	Not available	Unknown

References

20. Smith JR, Freije D, Carpten JD, et al.: Major susceptibility locus for prostate cancer on chromosome 1 suggested by a genome-wide search. Science 274 (5291): 1371-4, 1996.  [PUBMED Abstract]
    
    
38. Wiklund F, Jonsson BA, Brookes AJ, et al.: Genetic analysis of the RNASEL gene in hereditary, familial, and sporadic prostate cancer. Clin Cancer Res 10 (21): 7150-6, 2004.  [PUBMED Abstract]
    
    
58. Tavtigian SV, Simard J, Teng DH, et al.: A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet 27 (2): 172-80, 2001.  [PUBMED Abstract]
    
    
63. Severi G, Giles GG, Southey MC, et al.: ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer. J Natl Cancer Inst 95 (11): 818-24, 2003.  [PUBMED Abstract]
    
    
69. Xu J, Zheng SL, Komiya A, et al.: Germline mutations and sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Nat Genet 32 (2): 321-5, 2002.  [PUBMED Abstract]
    
    
70. Xu J, Zheng SL, Komiya A, et al.: Common sequence variants of the macrophage scavenger receptor 1 gene are associated with prostate cancer risk. Am J Hum Genet 72 (1): 208-12, 2003.  [PUBMED Abstract]
    
    
74. Sun J, Hsu FC, Turner AR, et al.: Meta-analysis of association of rare mutations and common sequence variants in the MSR1 gene and prostate cancer risk. Prostate 66 (7): 728-37, 2006.  [PUBMED Abstract]
    
    
92. Thompson D, Easton DF; Breast Cancer Linkage Consortium.: Cancer Incidence in BRCA1 mutation carriers. J Natl Cancer Inst 94 (18): 1358-65, 2002.  [PUBMED Abstract]
    
    
94. Cancer risks in BRCA2 mutation carriers. The Breast Cancer Linkage Consortium. J Natl Cancer Inst 91 (15): 1310-6, 1999.  [PUBMED Abstract]
    
    
96. Nastiuk KL, Mansukhani M, Terry MB, et al.: Common mutations in BRCA1 and BRCA2 do not contribute to early prostate cancer in Jewish men. Prostate 40 (3): 172-7, 1999.  [PUBMED Abstract]
    
    
98. Lehrer S, Fodor F, Stock RG, et al.: Absence of 185delAG mutation of the BRCA1 gene and 6174delT mutation of the BRCA2 gene in Ashkenazi Jewish men with prostate cancer. Br J Cancer 78 (6): 771-3, 1998.  [PUBMED Abstract]
    
    
100. Oddoux C, Struewing JP, Clayton CM, et al.: The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nat Genet 14 (2): 188-90, 1996.  [PUBMED Abstract]
     
     
102. Struewing JP, Hartge P, Wacholder S, et al.: The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med 336 (20): 1401-8, 1997.  [PUBMED Abstract]
     
     
105. Edwards SM, Kote-Jarai Z, Meitz J, et al.: Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene. Am J Hum Genet 72 (1): 1-12, 2003.  [PUBMED Abstract]
     
     
115. Zuhlke KA, Madeoy JJ, Beebe-Dimmer J, et al.: Truncating BRCA1 mutations are uncommon in a cohort of hereditary prostate cancer families with evidence of linkage to 17q markers. Clin Cancer Res 10 (18 Pt 1): 5975-80, 2004.  [PUBMED Abstract]
     
     
120. Narla G, Heath KE, Reeves HL, et al.: KLF6, a candidate tumor suppressor gene mutated in prostate cancer. Science 294 (5551): 2563-6, 2001.  [PUBMED Abstract]
     
     
123. Bar-Shira A, Matarasso N, Rosner S, et al.: Mutation screening and association study of the candidate prostate cancer susceptibility genes MSR1, PTEN, and KLF6. Prostate 66 (10): 1052-60, 2006.  [PUBMED Abstract]
     
     
124. Zheng SL, Chang BL, Faith DA, et al.: Sequence variants of alpha-methylacyl-CoA racemase are associated with prostate cancer risk. Cancer Res 62 (22): 6485-8, 2002.  [PUBMED Abstract]
     
     
126. Daugherty SE, Shugart YY, Platz EA, et al.: Polymorphic variants in alpha-methylacyl-CoA racemase and prostate cancer. Prostate 67 (14): 1487-97, 2007.  [PUBMED Abstract]
     
     
127. Cybulski C, Górski B, Debniak T, et al.: NBS1 is a prostate cancer susceptibility gene. Cancer Res 64 (4): 1215-9, 2004.  [PUBMED Abstract]
     
     
131. Hebbring SJ, Fredriksson H, White KA, et al.: Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol Biomarkers Prev 15 (5): 935-8, 2006.  [PUBMED Abstract]
     
     
132. Dong X, Wang L, Taniguchi K, et al.: Mutations in CHEK2 associated with prostate cancer risk. Am J Hum Genet 72 (2): 270-80, 2003.  [PUBMED Abstract]
     
     
134. Cybulski C, Huzarski T, Górski B, et al.: A novel founder CHEK2 mutation is associated with increased prostate cancer risk. Cancer Res 64 (8): 2677-9, 2004.  [PUBMED Abstract]
     
     
135. Cybulski C, Wokołorczyk D, Huzarski T, et al.: A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer. J Med Genet 43 (11): 863-6, 2006.  [PUBMED Abstract]
     
     
137. Brose MS, Rebbeck TR, Calzone KA, et al.: Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst 94 (18): 1365-72, 2002.  [PUBMED Abstract]
     
     
138. Ford D, Easton DF, Stratton M, et al.: 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 (3): 676-89, 1998.  [PUBMED Abstract]
     
     
139. Rennert H, Zeigler-Johnson CM, Addya K, et al.: Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men. Cancer Epidemiol Biomarkers Prev 14 (4): 949-57, 2005.  [PUBMED Abstract]
     
     
140. Narla G, DiFeo A, Yao S, et al.: Targeted inhibition of the KLF6 splice variant, KLF6 SV1, suppresses prostate cancer cell growth and spread. Cancer Res 65 (13): 5761-8, 2005.  [PUBMED Abstract]