Genetic testing by cancer site: Uterus

Cancer Journal (United States)

Volumn 18, Issue 4, 2012, Pages 338-342

  Daniels, Molly S ^a  

^a UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

Author keywords

Cowden syndrome; hereditary leiomyomatosis and renal cell cancer; hereditary nonpolyposis colorectal cancer; Lynch syndrome; PTEN hamartoma; tumor syndrome

Indexed keywords

B RAF KINASE; FUMARATE HYDRATASE; MISMATCH REPAIR PROTEIN PMS2; ORAL CONTRACEPTIVE AGENT; PROTEIN MLH1; PROTEIN MSH6;

CANCER LOCALIZATION; CANCER PATIENT; CANCER RISK; CANCER SCREENING; CANCER SUSCEPTIBILITY; COMPUTER ASSISTED TOMOGRAPHY; COWDEN SYNDROME; DISEASE ASSOCIATION; DRUG EFFICACY; ENDOMETRIUM CANCER; ENZYME DEFICIENCY; FEMALE INFERTILITY; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; IMMUNOHISTOCHEMISTRY; KIDNEY CANCER; KIDNEY CARCINOMA; LEIOMYOMATOSIS; MENORRHAGIA; MICROSATELLITE INSTABILITY; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PELVIS PAIN SYNDROME; POINT MUTATION; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; REVIEW; RISK FACTOR; TRANSVAGINAL ECHOGRAPHY; UTERUS MYOMA;

COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; ENDOMETRIAL NEOPLASMS; FEMALE; GENETIC COUNSELING; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; KIDNEY NEOPLASMS; LEIOMYOMATOSIS; NEOPLASTIC SYNDROMES, HEREDITARY; UTERINE NEOPLASMS;

EID: 84864575688     PISSN: 15289117     EISSN: 1540336X     Source Type: Journal    
DOI: 10.1097/PPO.0b013e3182610cc2     Document Type: Review

References (58)

1. National Cancer Institute. Endometrial Cancer Prevention (PDQ). Available at: Http://www.cancer.gov/cancertopics/pdq/prevention/endometrial/ HealthProfessional. Accessed April 16, 2012.
2. National Cancer Institute. SEER Stat Fact Sheets: Corpus and Uterus, NOS. Available at: Http://seer.cancer.gov/statfacts/html/corp.html#risk. Accessed April 16, 2012.
3. National Cancer Institute. Uterine sarcoma. Available at: Http://www.cancer. gov/cancertopics/types/uterinesarcoma. Accessed April 16, 2012.
4. Broaddus R. Pathology of Lynch syndromeYassociated gynecological cancers. In: Lu KH, ed. Hereditary Gynecologic Cancer: Risk, Prevention, and Management. New York: Informa Healthcare; 2008.
5. Mendivil A, Schuler KM, Gehrig PA. Non-endometrioid adenocarcinoma of the uterine corpus: A review of selected histological subtypes. Cancer Control. 2009;16:46-52.
6. Buchanan EM, Weinstein LC, Hillson C. Endometrial cancer. Am Fam Physician. 2009;80:1075-1080.
7. Day Baird D, Dunson DB, Hill MC, et al. High cumulative incidence of uterine leiomyoma in black and white women: Ultrasound evidence. Am J Obstet Gynecol. 2003;188:100-107.
8. Hampel H, Frankel W, Panescu J, et al. Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2006;66:7810-7817.
9. Hampel H, Panescu J, Lockman J, et al. Comment on: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. Cancer Res. 2007;67:9603.
10. Stoffel E, Mukherjee B, Raymond VM, et al. Calculation of risk of colorectal and endometrial cancer among patients with Lynch syndrome. Gastroenterology 2009;137:1621-1627.
11. Hampel H, Stephens JA, Pukkala E, et al. Cancer risk in hereditary nonpolyposis colorectal cancer syndrome: Later age of onset.Gastroenterology 2005;129:415-421.
12. Lu KH, Schorge JO, Rodabaugh KJ, et al. Prospective determination of prevalence of Lynch syndrome in young women with endometrial cancer. J Clin Oncol. 2007;25:5158-5164.
13. Berends MJ, Wu Y, Sijmons RH, et al. Toward new strategies to select young endometrial cancer patients for mismatch repair gene mutation analysis. J Clin Oncol. 2003;21:4364-4370.
14. Millar AL, Pal T, Madlensky L, et al. Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. Hum Mol Genet. 1999;8:823-829.
15. Westin SN, Lacour RA, Urbauer DL, et al. Carcinoma of the lower uterine segment: A newly described association with Lynch syndrome. J Clin Oncol. 2008;26:5965-5971.
16. Balmana J, Stockwell DH, Steyerberg EW, et al. Prediction of MLH1 and MSH2 mutations in Lynch syndrome. JAMA. 2006;296: 1469-1478.
17. Chen S,WangW, Lee S, et al. Prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA. 2006;296:1479-1487.
18. Backes FJ, Leon ME, Ivanov I, et al. Prospective evaluation of DNA mismatch repair protein expression in primary endometrial cancer. Gynecol Oncol. 2009;114:486-490.
19. Kwon JS, Scott JL, Gilks CB, et al. Testing women with endometrial cancer to detect Lynch syndrome. J Clin Oncol. 2011;29:2247-2252.
20. Weissman SM, Bellcross C, Bittner CC, et al. Genetic counseling considerations in the evaluation of families for Lynch syndromeVa review. J Genet Couns. 2011;20:5-19.
21. National Comprehensive Cancer Network. Colorectal Cancer Screening, Version 1.2012. Available at: Http://www.nccn.org/professionals/physician-gls/ pdf/colorectal-screening.pdf. Accessed April 16, 2012.
22. Esteller M, Levine R, Baylin SB, et al. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene. 1998;17:2413-2417.
23. Kawaguchi M, Yanokura M, Banno K, et al. Analysis of a correlation between the BRAF V600E mutation and abnormal DNA mismatch repair in patients with sporadic endometrial cancer. Int J Oncol. 2009;34: 1541-1547.
24. Bonadona V, Bonaiti B, Olschwang S, et al. Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. JAMA. 2011;305:2304-2310.
25. Senter L, Clendenning M, Sotamaa K, et al. The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 2008;135:419-428.
26. Kempers MJ, Kuiper RP, Ockeloen CW, et al. Risk of colorectal and endometrial cancers in EPCAM deletionYpositive Lynch syndrome: A cohort study. Lancet Oncol. 2011;12:49-55.
27. Lynch HT, Riegert-Johnson DL, Snyder C, et al. Lynch syndromeY associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol. 2011;106:1829-1836.
28. Broaddus RR, Lynch HT, Chen LM, et al. Pathologic features of endometrial carcinoma associated with HNPCC: A comparison with sporadic endometrial carcinoma. Cancer. 2006;106:87-94.
29. Schmeler KM, Lynch HT, Chen LM, et al. Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med. 2006;354:261-269.
30. Lindor NM, Petersen GM, Hadley DW, et al. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: A systematic review. JAMA. 2006;296:1507-1517.
31. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44:353-362.
32. Rijcken FE, Mourits MJ, Kleibeuker JH, et al. Gynecologic screening in hereditary nonpolyposis colorectal cancer.GynecolOncol. 2003;91:74-80.
33. Dove-Edwin I, Boks D, Goff S, et al. The outcome of endometrial carcinoma surveillance by ultrasound scan in women at risk of hereditary nonpolyposis colorectal carcinoma and familial colorectal carcinoma. Cancer. 2002;94:1708-1712.
34. Renkonen-Sinisalo L, Butzow R, Leminen A, et al. Surveillance for endometrial cancer in hereditary nonpolyposis colorectal cancer syndrome. International journal of cancer. J Int Cancer. 2007;120:821-824.
35. ButlerMG, Dasouki MJ, Zhou XP, et al. Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTENtumour suppressor genemutations. JMed Genet. 2005;42:318-321.
36. Varga EA, Pastore M, Prior T, et al. The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genet Med. 2009;11:111-117.
37. Tan MH, Mester JL, Ngeow J, et al. Lifetime cancer risks in individuals with germline PTEN mutations. Clin Cancer Res. 2012;18:400-407.
38. Pilarski R. Cowden syndrome: A critical review of the clinical literature. J Genet Couns. 2009;18:13-27.
39. Tan MH, Mester J, Peterson C, et al. A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet. 2011;88:42-56.
40. Eng C. PTEN hamartoma tumor syndrome (PHTS). In: Pagon RA, Bird TD, Dolan CR, et al, eds. GeneReviews. Seattle, WA: University of Washington, Seattle. 1993.
41. Pilarski R, Stephens JA, Noss R, et al. Predicting PTEN mutations: An evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. J Med Genet. 2011;48:505-512.
42. Starink TM, van der Veen JP, Arwert F, et al. The Cowden syndrome: A clinical and genetic study in 21 patients. Clin Genet. 1986;29:222-233.
43. Schmeler KM, Daniels MS, Brandt AC, et al. Endometrial cancer in an adolescent: A possiblemanifestation ofCowden syndrome. Obstet Gynecol. 2009;114(2 pt 2):477-479.
44. Black D, Bogomolniy F, Robson ME, et al. Evaluation of germline PTEN mutations in endometrial cancer patients. Gynecol Oncol. 2005;96:21-24.
45. National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2011. Available at: www. nccn.org. Accessed April 7, 2011.
46. Bayley JP, Launonen V, Tomlinson IP. The FH mutation database: An online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008;9:20.
47. Toro JR, Nickerson ML,Wei MH, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003;73:95-106.
48. Stewart L, Glenn GM, Stratton P, et al. Association of germline mutations in the fumarate hydratase gene and uterine fibroids in women with hereditary leiomyomatosis and renal cell cancer. Arch Dermatol. 2008;144:1584-1592.
49. Alam NA, Barclay E, Rowan AJ, et al. Clinical features of multiple cutaneous and uterine leiomyomatosis: An underdiagnosed tumor syndrome. Arch Dermatol. 2005;141:199-206.
50. Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: Update on clinical and molecular characteristics. Fam Cancer. 2011;10: 397-411.
51. Ylisaukko-oja SK, Kiuru M, Lehtonen HJ, et al. Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. Int J Cancer. 2006;119:283-287.
52. Gardie B, Remenieras A, Kattygnarath D, et al. Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma. J Med Genet. 2011;48:226-234.
53. Wei MH, Toure O, Glenn GM, et al. Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. J Med Genet. 2006;43:18-27.
54. Alrashdi I, Levine S, Paterson J, et al. Hereditary leiomyomatosis and renal cell carcinoma: very early diagnosis of renal cancer in a paediatric patient. Fam Cancer. 2010;9:239-243.
55. Lavie O, Hornreich G, Ben-Arie A, et al. BRCA germline mutations in Jewish women with uterine serous papillary carcinoma. Gynecol Oncol. 2004;92:521-524.
56. Barak F, Milgram R, Laitman Y, et al. The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients. Gynecol Oncol. 2010;119:511-515.
57. Levine DA, Lin O, Barakat RR, et al. Risk of endometrial carcinoma associated with BRCA mutation. Gynecol Oncol. 2001;80:395-398.
58. Francis JH, Kleinerman RA, Seddon JM, et al. Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma. Gynecol Oncol. 2012;124:254-259.