Referencias

BRACAnalysis®

COLARIS®

COLARIS AP®

Prolaris®

 

BRACAnalysis References

Overview

1. Claus EB, Schildkrauten JM, Thompson WD, Risch NJ, et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318-2324.2. Pal T, et al. BRCA1 and BRCA2 mutations account for a large proportion  of ovarian carcinoma cases.  Cancer 2005;104(12):2807-2816.
3. Risch H, et al. Prevalence and Penetrance of Germline BRCA1 and BRCA2 Mutations in a Population Series of 649 Women with Ovarian Cancer Am. J. Hum. Genet. 2001: 68:700-710.

Identifying Patients

68. The American Cancer Society of Breast Surgeons 2006. BRCA Genetic Testing for Patient With and Without Breast Cancer.  pdf available at:http://breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf

  • A personal or family history of ovarian cancer (particularly non-mucinous types)

69.  NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of epithelial ovarian/fallopian tube/primary peritoneal cancer
  • Family history of only: 1st or 2nd degree relative with epithelial ovarian/fallopian tube/primary peritoneal cancer
    • Third degree relative meeting the above criteria who additionally has ‰¥2 close* blood relatives with and/or ovarian cancer (at least one close blood relative with breast cancer ‰¤50)
    • *close blood relatives include first-, second- and third-degree relatives

70. U.S. Preventive Service Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.  Ann Intern Med. 2005;143(5):355-61.  www.guidelines.gov/summary/summary.aspx?doc_id=7784&nbr=004489&string=brca

  • Unaffected women with any one of the following:
    •  A combination of both breast and ovarian cancer among first- and second-degree relatives
    • A combination of 2 or more first- or second-degree relatives with ovarian cancer regardless of age at diagnosis
    • A first- or second-degree relative with both breast and ovarian cancer at any age

71.  ACOG Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome.  Gynecol Oncol. 2009 Apr; 113(1):6-11.

  • For women with ovarian cancer, primary peritoneal cancer or fallopian tube cancer of high grade, serious pathology at any age, genetic risk assessment may be helpful
  • Family history only: unaffected women with a first- or second-degree relative meeting the above criteria, genetic risk assessment may be helpful

72. The American Society of Breast Surgeons 2006. BRCA Genetic Testing for Patients With and Without Breast Cancer. pdf available at:http://breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf

  • Early onset of breast cancer (diagnosed before age 50), with or without family history
  • Family history of early onset breast cancer

73. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 BR/OV-1 CRITERIA FOR FURTHER RISK EVALUATION) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • An affected individual with early-age-onset breast cancer
    • Clinically use ‰¤50 y because studies define early onset as either ‰¤40 or ‰¤50y

74. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HBOC-1 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of breast cancer age ‰¤45y, with or without family history
  • Personal history of breast cancer diagnosed ‰¤50 with a limited family history
    • 2 or fewer first- or second-degree female relatives or female relatives surviving beyond 45 years in either lineage may have an underestimated probability of a familial mutation
    • Personal history of breast cancer at any age for individuals of ethnicity associated with higher mutation frequency (eg, Ashkenazi Jewish), with or without family history
      • Testing for Ashkenazi Jewish founder-specific mutations should be performed first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or other HBOC criteria are met.
      • Family History Only: first- or second-degree blood relative meeting any of the above criteria
        • Third-degree blood relative meeting the above criteria who additionally has ‰¥2 close blood relatives with breast and/or ovarian cancer (at least one close blood relative with breast cancer ‰¤50)

75. The Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecological Cancer Predispositions. Gyn Onc. 107;(2007):159-162.

  • For women of Ashkenazi Jewish ancestry with breast cancer ‰¤50 with or without family history, genetic risk assessment may be helpful
  • For women diagnosed with breast cancer ‰¤40 with or without family hisotry, genetic risk assessment may be helpful
  • Family History Only: unaffected women with a first- or second-degree relative meeting any of the above criteria, genetic risk assessment may be helpful

76. U.S. Preventive Service Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. Ann Intern Med. 2005;143(5):355-61. www.guidelines.gov/summary/summary.aspx?doc_id=7784&nbr=004489&string=brca

  • Unaffected women with 2 first-degree relatives with breast cancer, one of whom received the diagnosis at age 50 years or younger

77. ACOG Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome.  Gynecol Oncol. 2009 Apr;113(1):6-11.

  • Women with bilateral breast cancer, particularly if the first diagnosis was ‰¤50y, genetic risk assessment may be helpful
  • Women with breast or ovarian cancer at any age and ‰¥2 close relatives with breast or ovarian cancer at any age, particularly if at least one breast cancer was ‰¤50y, genetic risk assessment may be helpful
  • Family History Only: unaffected women with a first- or second-degree relative meeting above criteria, genetic risk assessment may be helpful

78. The American Society of Breast Surgeons 2006. BRCA Genetic Testing for Patients With and Without Breast Cancer. pdf available at:http://breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf

  • Personal history or close relative with 2 primary breast cancers (bilateral or ipsilateral)

79. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • An affected individual with two breast primaries in a single individual (bilateral or ipsilateral)
  • An unaffected individual with a family history of ‰¥2 breast primaries from the same side of the family (maternal or paternal)

80. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of 2 breast primaries when first breast cancer occurred prior to age 50y (bilateral or ipsilateral)
  • Personal history of breast cancer at any age with ‰¥2 close relatives with breast cancer at any age
  • Family History Only: first- or second-degree relative of individual meeting above criteria
    • Third-degree blood relative meeting the above criteria who additionally has ‰¥2 close blood relatives with breast and/or ovarian cancer (at least one close blood relative with breast cancer ‰¤50)

245. The Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecological Cancer Predispositions. Gyn Onc; 107(2007):159-162.

  • Women with bilateral breast cancer, particularly if the first diagnosis was ‰¤50y, genetic risk assessment may be helpful
  • Women with breast or ovarian cancer at any age and ‰¥2 close relatives with breast or ovarian cancer at any age, particularly if at least one breast cancer was ‰¤50y, genetic risk assessment may be helpful
  • Family History Only: unaffected women with a first- or second-degree relative meeting the above criteria, genetic risk assessment may be helpful

246. U.S. Preventive Service Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.  Ann Intern Med. 2005;143(5):355-61.  www.guidelines.gov/summary/summary.aspx?doc_id=7784&nbr=004489&string=brca

  • Unaffected women with a first-degree relative with bilateral breast cancer
  • Unaffected women with 2 first-degree relatives with breast cancer, one of whom received the diagnosis at age 50 years or younger
  • Unaffected women with a combination of 3 or more first- or second- degree relatives with breast cancer, regardless of age at diagnosis.

247. The American Society of Breast Surgeons 2006. BRCA Genetic Testing for Patients With and Without Breast Cancer. pdf available at:http://breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf

  • Personal history of male breast cancer at any age

248. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of male breast cancer at any age
  • Family History Only: first- or second-degree blood relative with male breast cancer at any age
    • Third-degree blood relative meeting the above criteria who additionally has ‰¥2 close blood relatives with breast and/or ovarian cancer (at least one close blood relative with breast cancer ‰¤50)

249. U.S. Preventive Service Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.  Ann Intern Med. 2005;143(5):355-61.  www.guidelines.gov/summary/summary.aspx?doc_id=7784&nbr=004489&string=brca

  • Unaffected women with a history of breast cancer in a male relative at any age

250. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 BR/OV-1 CRITERIA FOR FURTHER RISK EVALUATION) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Affected individual with triple negative (ER-, PR-,HER2-) breast cancer

251. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of triple negative breast cancer (ER-, PR-, HER2-) diagnosed ‰¤60, with or without family history
  • Family History Only: first- or second-degree blood relative of individual meeting the above criteria
    • Third-degree relative affected with breast cancer and or ovarian/fallopian tube/primary peritoneal cancer with ‰¥2 close blood relatives with breast cancer (at least one ‰¤50) and/or ovarian cancer

252. Gonzalez-Angolo AM, et al. Incidence and outcome of BRCA mutations in unselected patients with triple-receptor negative breast cancer. Clin Cancer Res. 2011 Mar 1;17(5):1082-9.

253. Comen E, et al. Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi women.  Breast Cancer Res Treat. 2011 Mar 11. [Epub ahead of print]

254. Young SR, et al. The prevalence of BRCA1 mutations among young women with triple negative breast cancer. BMC Cancer. 2009 Mar 19;9:86.

255. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 BR/OV-1 CRITERIA FOR FURTHER RISK EVALUATION) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Affected individual with breast cancer at any age and:
    • ‰¥2 close blood relatives with breast cancer and/or pancreatic cancer at any age
    • Affected individual with a combination of breast cancer with one of more of the following:
      • thyroid cancer, sarcoma, adrenocortical carcinoma, endometrial cancer, pancreatic cancer, brain tumors, diffuse gastric cancer, dermatologic manifestations or leukemia/lymphoma on the same side of the family
      • Unaffected individual with a family history of:
        • A combination of breast cancer with one or more of the following:
          • thyroid cancer, sarcoma, adrenocortical carcinoma, endometrial cancer, pancreatic cancer, brain tumors, diffuse gastric cancer, dermatologic manifestations or leukemia/lymphoma on the same side of the family

256. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of breast and/or ovarian cancer at any age with ‰¥2 close blood relatives with pancreatic cancer at any age
  • Personal history of pancreatic cancer at any age with ‰¥2 close blood relatives with breast and/or ovarian cancer at any age
  • Family History Only: first- or second-degree blood relative of individual meeting the above criteria
    • Third-degree relative affected with breast cancer and/or ovarian/fallopian tube/primary peritoneal cancer with ‰¥2 close blood relatives with breast cancer (at least one ‰¤50) and/or ovarian cancer

257. Ferrone CR, et al. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. J Clin Oncol. 2009;27(3):433-8.

258. Goggins M, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res. 1996 Dec 1;56(23):5360-4.

259. Couch FJ, et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev. 2007 Feb;16(2):342-6.

260. Hall MJ, et al. Family history of pancreatic cancer in a high-risk cancer clinic: implications for risk assessment. J Genet Couns. 2008 Aug;17(4):365-72.

261. Slater EP, et al. Prevalence of BRCA2 and CDKN2a mutations in German familial pancreatic cancer families. Fam Cancer. 2010 Sep;9(3):335-43.

262. Kim DH, et al. Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations. Fam Cancer. 2009;8(2):153-8.

263. Dagan E, et al. Predominant Ashkenazi BRCA1/2 mutations in families with pancreatic cancer. Genet Test. 2008 Jun;12(2):153-8.

264. Hahn SA, et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst. 2003 Feb 5;95(3):214-21.

265. The Breast Cancer Linkage Consortium. J Natl Cancer Inst. 1999;91:1310-6.

266. Brose MS, et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. J Natl Cancer Inst. 2002 Sep 18;94(18):1365-72.

267. Murphy MM, et al. Evaluation of candidate genets MAP2K4, MADH4, ACVR1B and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res. 2002 Jul 1;62(13):3789-93.

268. ACOG Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome.  Gynecol Oncol. 2009 Apr;113(1):6-11.

  • Women of Ashkenazi Jewish ancestry with ovarian cancer at any age, genetic risk assessment recommended
  • Women of Ashkenazi Jewish ancestry with breast cancer ‰¤50, genetic risk assessment may be helpful
  • Family History Only: unaffected women of Ashkenazi Jewish ancestry with a first- or second-degree relative meeting either of the above criteria, genetic risk assessment may be helpful

269. The American Society of Breast Surgeons 2006. BRCA Genetic Testing for Patients With and Without Breast Cancer. pdf available at:http://breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf

  • Ashkenazi (Eastern European) Jewish heritage

270. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 BR/OV-1 CRITERIA FOR FURTHER RISK EVALUATION) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • From a population at risk

271. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Personal history of breast cancer at any age and of Ashkenazi Jewish ancestry, with or without family history
    • Testing for Ashkenazi Jewish founder-specific mutations should be performed first. Full sequencing may be considered if ancestry also includes non-Ashkenazi Jewish relatives or other HBOC criteria are met.
    • Family History Only: Ashkenazi Jewish ancestry and a first- or second-degree blood relative with breast cancer at any age
      • Third-degree blood relative meeting the above criteria who additionally has ‰¥2 close blood relatives with breast and/or ovarian cancer (at least one close blood relative with breast cancer ‰¤50)

272. The Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecological Cancer Predispositions. Gyn Onc; 107(2007):159-162.

  • Women of Ashkenazi Jewish ancestry with ovarian cancer at any age, genetic risk assessment recommended
  • Women of Ashkenazi Jewish ancestry with breast cancer ‰¤50, genetic risk assessment may be helpful
  • Family History Only: women of Ashkenazi Jewish ancestry with a first- or second-degree relative meeting either of the above criteria, genetic risk assessment may be helpful

273. U.S. Preventive Service Task Force. Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility.  Ann Intern Med. 2005;143(5):355-61.  www.guidelines.gov/summary/summary.aspx?doc_id=7784&nbr=004489&string=brca

  • Unaffected Ashkenazi Jewish women with:
    • Any first-degree relative with breast or ovarian cancer at any age, or
    • Two second-degree relatives on the same side of the family with breast or ovarian cancer at any age

274. Metcalfe KA, et al. Screening for founder mutations in BRCA1 and BRCA2 in unselected Jewish women. J Clin Oncol. 2010 Jan 20;28(3):387-91.

275. ACOG Committee on Practice Bulletins. Hereditary breast and ovarian cancer syndrome. Gynecol Oncol. 2009 Apr;113(1):6-11.

  • Women with a first- or second-degree relative with a known BRCA1 or BRCA2 mutation, genetic risk assessment is recommended

276. The American Society of Breast Surgeons 2006. BRCA Genetic Testing for Patients With and Without Breast Cancer. pdf available at:http://breastsurgeons.org/statements/PDF_Statements/BRCA_Testing.pdf

  • A previously identified BRCA1 or BRCA2 mutation in the family

277. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian (v.1.2011 HEREDITARY BREAST AND/OR OVARIAN SYNDROME TESTING CRITERIA) available at: http://nccn.org/professionals/physician_gls/f_guidelines.asp

  • Individual from a family with a known BRCA1/BRCA2 mutation

278. The Society of Gynecologic Oncologists Education Committee Statement on Risk Assessment for Inherited Gynecological Cancer Predispositions. Gyn Onc; 107(2007):159-162.

  • Women with a first- or second-degree relative with a known BRCA1 or BRCA2 mutation, genetic risk assessment is recommended

279. U.S. Preventive Services Task Force (USPSTF). Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility. Ann Intern Med. 2005;143(5):355-61.

  • Unaffected women with known family history of BRCA1/2 mutations.

Cancer Risks

4. Ford D, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676-689.

5. Dominguez FJ, Jones JL, Zabicki K, et al. Prevalence of hereditary breast/ovarian carcinoma risk in patients with a personal history of breast or ovarian carcinoma in a mammography population. Cancer. 2005;104(9):1849-1853.
6. Antoniou A, Pharoah PDP, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. Am J Hum Genet. 2003;72(5):1117-1130.
7. Easton DF, et al. Breast and ovarian cancer incidence in BRCA1 mutation carriers. Am J Hum Genet. 1995;56:265-271.
8. Ford D, et al. Risks of cancer in BRCA1 mutation carriers. Lancet. 1994;343:692-695.
9. Struewing JP, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336:1401-1408.
10. Verhoog LC, et al. Survival and tumour characteristics of breast cancer patients with germline mutations of BRCA1. Lancet. 1998; 351:316-21.
11. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers.” J Natl. Cancer Inst. 1999;91:1310-1316.

Medical Management

12. NCCN recommendations for BRCA1/2 mutation carriers:  http://nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf.
13. Burke W, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II BRCA1 and BRCA2. JAMA. 1997;277:997-1003.
14. Saslow, et al. American cancer society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin. 2007 Mar-Apr;57(2):75-89.
15. Gronwald, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update.  Int J Cancer 2006; 118(9):2281-4. Narod SA, et al. Oral contraceptives and the risk of hereditary ovarian cancer.” N Engl J Med. 1998;339:424-428.
16. Narod SA, et al.  Oral contraceptives and the risk of hereditary ovarian cancer.”N Engl J Med. 1998;339:424-428.
17. Hartmann LC, et al. Bilateral prophylactic mastectomy (PM) in BRCA1/2 mutation carriers. Proc Am Assoc Ca Res. 2000;41:222-223.
18. Rebbeck TR, et al. Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations.” N Engl J Med. 2002;346(21):1616-1622.
19. Kauff ND, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. NEJM <2002;346:1609-1615.

Additional References

20. Coughlin SS, et al. BRCA1 and BRCA2 gene mutations and risk of breast cancer. Public health perspectives. Am J Prev Med. 1999;16(2):91-98.
21. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper, KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals.” J Clin Oncol. 20:1480-1490, 2002.

22. Constantino J, Gail MH, et al. Validation studies for models projecting the risk of invasive and total breast cancer incidence. J Natl Cancer Inst. 1999;91(18):1541-1548.

2.3 Gayther SA, Russell P, Harrington P, et al. The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: No evidence for other ovarian cancer-susceptibility genes. Am J Hum Genet. 1999;65:1021-1029.

24. Shannon KM, Lubratovich ML, Finkelstein DM, et al. Model-based predictions of BRCA1/2 mutation status in breast carcinoma patients treated at an academic medical center. Cancer. 2002;94:305-313.

25. Metcalfe K, et al. Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. JCO. 2004;22:2328-35

 

COLARIS References

Overview

40. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213.
41. Boland, CR. Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer. 2005;4:211-218.
42. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. Journal of Clinical Oncology2000;11:2193-200.
43. Peltomaki P. Role of DNA mismatch repair defects in the pathogenesis of human cancer. Journal of Clinical Oncology 2003;21:1174-9.
44. Plaschke J, et al. Lower incidence of colorectal cancer and later stage of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium. Journal of Clinical Oncology 2004;22:4486-94.
45. Ligtenberg MJL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons ofTACSTD1. Nature Genetics 2009(1):112-117.
46. Kovacs ME, et al. Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. Human Mutation2009;30(2):197-203.

280. Cleary SP, et al. Germline MutY homolgue mutations and colorectal cancer: a multisite case-control study. Gastroenterology. 2009;136:1251-60.

Cancer Risks

47. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81:214-218.
48. Vasen F, Juul T, et al. Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis. Gastroenterology. 1996; 110:1020-1027.
49. Mecklin J, Järvinen HJ. Clinical features of colorectal carcinoma in cancer family syndrome. Dis Colon Rectum. 1986:29:160-164.

281.Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, Gallinger S. Risk of colorectal cancer in monoallelic and bialelic carriers of MYH mutations: a populations-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2):312-4.

Medical Management

50. NCCN recommendations for Lynch mutation carriers: www.nccn.org/professionals/physician_gls/PDF/colorectal_screening.pdf

52. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213.

52. Burt R. Colon cancer screening. Gastroenterology 2000;119:837-53.

53. Winawer S, Fletcher R, Rex D, et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale €“ update based on new evidence. Gastroenterology 2003;124:544-60.

54. Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Diseases of the Colon & Rectum 2003;46:1001-12.

55.Schmeler KM, Lv KH. Gynecologic Cancers Associated with Lynch Syndrome/HNPCC. Clin Trans/Oncol. 2008 Jun; 10(6): 313-7.

56. Grover S, Syngal S. Risk Assessment, Genetic Testing and Management of Lynch Syndrome. JNCCN. 2010 Jan; 8(1): 98-105.

Additional References

57. Järvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829-834.

58. Burke W, Petersen G, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA. 1997:277:915-919.

59. Vasen HFA, Watson P, Mecklin J-P, Lynch HT, and the ICG-HNPCC. New clinical criteria for hereditary nonpolyposis colon cancer (HNPCC, Lynch Syndrome): proposed by the International Collaborative Group on HNPCC. Gastroenterology. 1999;116:1453-1456.

60. Salovaara R, Loukola A, Kristo P, et al. Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol. 2000;18:2193-2200.

61. Plaschke J, Engel C, Kruger S, et al. Lower incidence of colorectal cancer and later age of disease onset in 27 families with pathogenic MSH6 germline mutations compared with families with MLH1 or MSH2 mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium. J Clin Oncol. 2004;22:4486-4494.

62. Hendriks YM, Wagner A, Morreau H, et al. Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: Impact on counseling and surveillance. Gastroenterology. 2004;127:17-25.

63. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. Journal of the National Cancer Institute 2004;96:261-8.

64. Chen S. Q&A: Lynch syndrome prediction model. Public Health News Center, Johns Hopkins Bloomburg School of Public Health. www.jhsph.edu/publichealthnews/articles/2006/chen_mmrpro.html. Updated September 26, 2006. Accessed November 2008.

65. Syngal S, Weeks JC, Schrag D, et al. Benefits of colonoscopic surveillance and prophylactic colectomy in patients with hereditary nonpolyposis colorectal cancer mutations. Ann Intern Med. 1998;129:787-796.

66. Schmeler KM, Lynch HT, Chen L, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261-269.

67. Hendriks YM, et al. Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology. 2006 Feb;130(2):312-22.

COLARIS AP References

Overview

81. Burt R, Neklason DW. Genetic testing for inherited colon cancer. Gastroenterology. 2005 May;128(6):1696-716
.
82. Halford SE, Rowan AJ, et al. Germline mutations but not somatic changes at the MYH locus contribute to the pathogenesis of unselected colorectal cancers. Am J Pathol. 2003;162(5):1545-8.

83. Al-Tassan N, Chmiel NH, Maynard J, et al. Inherited variants of MYH associated with somatic G:C–>T:A mutations in colorectal tumors. Nature Genetics 2002;30:227-32.

84. Bulow S, Faurschou Nielson T, Bulow C, et al. The incidence rate of familial adenomatous polyposis: results from the Danish Polyposis Register. Int J Colorectal Dis. 1996;11:88-91.

Cancer Risks

85. Nugent KP, Spigelman AD, Philips RK. Risk of extracolonic cancer in familial adenomatous polyposis. Br J Surg. 1996; 83:1121-1122.

Benefits of Testing

86. Nugent KP, Spigelman AD, Philips RK. Risk of extracolonic cancer in familial adenomatous polyposis. Br J Surg. 1996; 83:1121-1122.

Medical Management

87. Giardiello FM, Brensinger JD, Petersen GM. AGA technical review on hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:198-213.

88. Bulow S, Faurschou Nielson T, Bulow C, et al. The incidence rate of familial adenomatous polyposis: results from the Danish Polyposis Register. Int J Colorectal Dis. 1996;11:88-91.

89. Kauff ND, et al. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. NEJM <2002;346:1609-1615.

90. Burt R. Colon cancer screening. Gastroenterology 2000;119:837-53.

91. Church J, Simmang C. Practice parameters for the treatment of patients with dominantly inherited colorectal cancer (familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer). Diseases of the Colon & Rectum 2003;46:1001-12.

92. Winawer S, Fletcher R, Rex D, et al. Colorectal cancer screening and surveillance: clinical guidelines and rationale €“ update based on new evidence. Gastroenterology 2003;124:544-60.

93. Wang L, Baudhuin LM, Boardman LA, et al. MYH mutations in patients with attenuated and classical polyposis and young onset colorectal cancer without polyps. Gastroenterology 2004;127:9-16.

282.NCCN Clinical Practice Guidelines in Oncology for Colorectal Cancer Screening:http://nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf

283.Croitoru ME, Cleary SP, Di Nicola N, Manno M, Selander T, Aronson M, Redston M, Cotterchio M, Knight J, Gryfe R, Gallinger S. Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk. J Natl Cancer Inst. 2004 Nov 3:96(21):1631-4.

Additional References

94. Li G, Tamura K, Yamamoto Y, et al. Molecular and clinical study of familial adenomatous polyposis for genetic testing and management. J Exper Clin Cancer Res. 1999;519.

95. Spirio L, Olschwang S, Groden J. et al. Alleles of the APC gene: An attenuated form of familial polyposis. Cell. 1993; 75:951-957.
96. Lynch HT, Smyrk T, McGinn T, et al. Attenuated familial adenomatous polyposis (AFAP): a phenotypically and geneotypically distinctive variant of FAP. Cancer. 1995;76:2427-2433.

97. Bussey HJR. Familial Polyposis Coli: Family Studies, Histopathology, Differential Diagnosis, and Results of Treatment. Baltimore, MD: Johns Hopkins University Press; 1975.

98. Lynch H, Smyrk T, et al. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology. 1993;104:1535-1549.

99. Brensigner JD, Laken SJ, Luce MC, et al. Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene. Gut. 1998:548.

100.Hoyle C, Burt RW. Familial adenomatous polyposis. Available at: http://geneclinics.org/profiles/fap/details.html. Accessed June 21, 2002

101.Lynch HT, Thorson AG, McComb RD, et al. Familial adenomatous polyposis and extracolonic cancer. Dig Dis Sci. 2001;46(110):2325-2332.

102.Soravia C, Berk T, Madlensky L, et al. Genotype-phenotype correlations in attenuated adenomatous polyposis coli. Am J Hum Genet. 1998;62:1290-1301.

103.Burt RW, Leppert MF, Slattery ML, et al. Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology 2004;127:444-451.

104.Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med. 2003;348:791-99.

105.Fleischmann C, Peto J, Cheadle J, et al. Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer. 2004;109:554-8.

106.King JE, Dozois RR, Lindor NM, et al. Care of patients and their families with familial adenomatous polyposis. Mayo Clinic Proceedings 2000;75:57-67.

107.Gismondi V, Meta M, Bonelli L, et al. Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas. Intl J of Cancer. 2004;109:680-4

108.Jass JR. Colorectal polyposes: From phenotype to diagnosis.

109.Knudsen AL, Bülow S, Tomlinson I, Möslein G, Heinimann K, Christensen IJ. Attenuated Familial Adenomatous Polyposis (AFAP). Results from an international collaborative study. Colorectal Dis. 2010 Jan 22.

110.Galiastatos P, et al. Familial Adenomatous Polyposis. Am J Gatroenterology 2006 101 (2):385-98.

111.Guillén-Ponce C, et al. Biallelic MYH germline mutations as cause of Muir-Torre syndrome. Fam Cancer.2010 Jun;9(2):151-4.

112.Sieber OM, Lipton L, Crabtree M, et al. Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYHNew England Journal of Medicine 2003;348:791-99.

113.Aretz S MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype. Int J Cancer. 2006 Aug 15;119(4):807-14.

114.Jenkins MA, Croitoru ME, Monga N, Cleary SP, Cotterchio M, Hopper JL, GallingerS. 312-4. Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study. Cancer Epidemiol Biomarkers Prev. 2006 Feb;15(2).

115.Bouguen,G, et. al. Colorectal Adenomatous Polyposis Associated with MYH Mutations: Genotype and Phenotype Characteristics. Dis Colon Rectum. 2007 Oct: 50(10) 1612-1617.

116.Cleary SP, et al. Germline MutY Human Homologue Mutations and Colorectal Cancer: A Multisite Case-Control Study. Gastroenterology 2009: 136(4): 1251-1260

Prolaris References

Why Measure Tumor Growth Characteristics?

231.National Comprehensive Cancer Network. NCCN Clinical Practice Guidelines in Oncology. Prostate Cancer V1.1.2010.p. MS-2 www.nccn.org. Accessed April 2, 2010

232.Tseng KS, Landis P, Epstein JI, Trock BJ, Carter HB. Risk stratification of men choosing surveillance for low risk prostate cancer. J Urol. doi:1016/juro.2010.01.001. In press.

233.Freedland SJ, Humphreys EB, Mangold LA, Eisenberger MA, Dorey FJ, Walsh PC, Partin AW. Risk of prostate cancer-specific mortality following biochemical recurrence after radical prostatectomy. JAMA. 2005;294:433-39.

234.Pound CR, Partin AW, Eisenberger MA, Chan AW, Pearson JD, Walsh PC. Natural history of progression after PSA elevation following radical prostatectomy. JAMA. 1999;282:1591-97

235.Thompson I, Leach RJ, Pollack BH, Naylor SL. Prostate cancer and prostate specific antigen: the more we know, the less we understand. J Natl Cancer Inst. 2003;95:1027-28.

236.Allsbrook Jr WC, Mangold KA, Johnson MH, Lane RB, Lane CG, Epstein JI. Interobserver reproducibility of Gleason grading of prostatic carcinoma: general pathologists. Hum Pathol. 2001;32:81-88.

237.Graefen M, Karakiewicz PL, Cagiannos I, Klein E, Kupelian PA, et al. Validation study of the accurancy of postoperative nomogram for recurrence after radical prostatectomy for localized prostate cancer. J Clin Oncol. 2002;20:951-56.

238.Graefen M, Karakiewicz PL, Cagiannos I, Quinn DI, Henshall SM, et al. International validation of a preoperative nomogram for prostate cancer recurrence after radical prostatectomy. J Clin Oncol. 2002;20:3206-09.

Cell Cycle Progression Genes

239.Fan C, Oh DS, Wessels L, Weigelt B, Dimitry SA, et al. Concordance among gene-expression-based predictors for breast cancer. N Engl J Med. 2006;355(6):560-69.

240.Teschendorff AE, Naderi A, Barbosa-Morais NL, Pinder SE, Ellis IO, et al. A consensus prognostic gene expression classifier for ER positive breast cancer.Genome Biology. 2006;7:R101. doi:10.1186/gb-2006-7-10-r101.

241.Mosley JD, Keri RA. Cell cycle correlated genes dictate the prognostic power of breast cancer gene lists. BMC Medical Genomics. 2008;1:11. doi:10.1186/1755-8794-1-11.

242.Whitfield ML, Sherlock G, Saldanha AJ, Murray JI, Ball CA, et al. Identification of genes periodically expressed in the human cell cycle and their expression in tumors. Mol Biol Cell. 2002;13:1977-2000.

243.Habel LA, Shak S, Jacobs MK, Capra A, Alexander C, et al. A population-based study of tumor gene expression and risk of breast cancer death among lynch node-negative patients. Breast Cancer Research. 2006;8:R25. doi:10.1186/brc1412.

244.Paik S, Tang G, Shak S, Kim C, Baker J, etal. Gene expression and benefit of chemotherapy in women with node-negative, estrogen receptor-positive breast cancer. J Clin Oncol. 2006;24:3726-34.