Tư Vấn Gen Di Truyền cho Ung Thư: Công Nghệ Hứa Hẹn Cải Thiện Sàng Lọc cho Bệnh Nhân Ung Thư Di Truyền

Springer Science and Business Media LLC - Tập 1 - Trang 135-141 - 2013
Kristin B. Niendorf1, Brittany C. Thomas2
1University of Minnesota, Minneapolis, USA
2Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, USA

Tóm tắt

Khoảng 100,000 trường hợp ung thư tại Hoa Kỳ mỗi năm do các tình trạng di truyền. Nhiều hội chứng ung thư di truyền đã được mô tả, liên quan đến gần như mọi loại ung thư, và các biện pháp phòng ngừa đã chứng minh có thể giảm nguy cơ ung thư. Với sự xuất hiện của công nghệ mới, các tùy chọn xét nghiệm gen ngày càng phức tạp hơn. Các tư vấn viên gen được đào tạo chuyên biệt điều phối việc xác định, xét nghiệm, giáo dục và chăm sóc cho bệnh nhân có nguy cơ ung thư di truyền. Do đó, các tư vấn viên gen đang ở vị trí tiên phong trong việc tích hợp công nghệ mới vào chăm sóc y tế cho bệnh nhân ung thư di truyền. Các phương pháp mới xét nghiệm nhiều gen hơn, nhanh hơn và với chi phí thấp hơn nhưng đi kèm với những thách thức tiềm ẩn về thông tin không hữu ích hoặc không mong muốn. Thêm vào đó, các thuật toán sử dụng các xét nghiệm này sẽ cách mạng hóa sàng lọc một số lượng lớn người cho các hội chứng ung thư di truyền. Các tư vấn viên gen đã sẵn sàng để cung cấp nhiều sơ đồ xét nghiệm cũng như cung cấp giáo dục về tác động của kết quả đối với các nhà cung cấp, bệnh nhân và gia đình.

Từ khóa

#tư vấn gen #ung thư #hội chứng ung thư di truyền #xét nghiệm gen #công nghệ y tế #phòng ngừa ung thư

Tài liệu tham khảo

Siegel R, Naishadham D, Jemal A. Cancer statistics, 2012. CA Cancer J Clin. 2012;62:10–29. Meyer LA, Anderson ME, Lacour RA, et al. Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities. Obstet Gynecol. 2010;115:945–52. Bellcross CA, Kolor K, Goddard KA, et al. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med. 2011;40:61–6. Douglas JA, Gruber SB, Meister KA, et al. History of molecular genetics of Lynch syndrome in family G: a century later. JAMA. 2005;294:2195–202. Friedman LS, Ostermeyer EA, Szabo CI, et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet. 1994;8:399–404. Collins N, McManus R, Wooster R, et al. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13. Oncogene. 1995;10:1673–5. • Riley BD, Culver JO, Skrzynia C, et al. Essential elements of genetic cancer risk assessment, counseling and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Counsel. 2012;21:151–161. This paper, from the National Society of Genetic Counselors [NSGC (United States)], provides current Practice Guidelines on Genetic Counseling for Cancer. • Berliner JL, Fay AM, Cummings SA, Burnett B, Tillmanns T. NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns. 2013;22:155–63. This paper, from the National Society of Genetic Counselors [NSGC (United States)], provides current Practice Guidelines on Genetic Counseling for Hereditary Breast and Ovarian Cancer. National Comprehensive Cancer Network guidelines for genetic/familial high-risk assessment: breast and ovarian. http://www.nccn.org/patients/patient_gls/_english/pdf/NCCN%20Breast%20Guidelines.pdf. Accessed 23 Feb 2013. Rebbeck TR, Kauf ND, Domcheck S. Meta-analysis of Risk Reduction Estimates Associated With Risk-Reducing Salpingo-oophorectomy in BRCA1 or BRCA2 Mutation Carriers. J Natl Cancer Inst. 2009;101:80–7. Palomaki GE, McClain MR, Melillo S, et al. EGAPP Supplementary evidence review: DNA Testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Gen Med. 2009;11:42–65. •• Weissman SM, Burt R, Church J, et al. Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited colorectal cancer joint practice guideline. J Genet Counsel. 2012;21:484–493. This joint recommendation from the National Society of Genetic Counselors [NSGC (United States)] and the Collaborative Group of the Americas on Inherited Colorectal Cancer (GCA-ICC) outlines protocols for identifying and testing patients for Lynch syndrome. National Comprehensive Cancer Network guidelines for colorectal cancer screening version 2:2012. http://www.nccn.org/professionals/physician_gls/pdf/colorectal_screening.pdf. Accessed 23 Feb 2013. Recommendations from the EGAPP Working Group. genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet Med. 2009;11:35–41. Ladabaum U, Wang G, Terdiman J, et al. Strategies to identify the Lynch syndrome among patients width colorectal cancer: a cost-effectiveness analysis. Ann Intern Med. 2011;155:69–79. Mvundura M, Grosse SD, Hampel H, et al. The cost effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet Med. 2010;12:93–104. Statement of the American Society of Clinical Oncology. genetic testing for cancer susceptibility, Adopted on February 201996. J Clin Oncol. 1996;14:1730–17366. discussion 7-40. American Society of Clinical Oncology policy statement update. genetic testing for cancer susceptibility. J Clin Oncol. 2003;21:2397–406. Robson ME, Storm CD, Weitzel J, et al. American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2010;28:893–901. Fitzgerald RC, Hardwick R, Huntsman D, et al. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010;47:436–44. • Pritchard CC, Smith C, Salipante SJ, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn. 2012;14:357–366. This paper describes the first targeted hereditary colon cancer panel (ColoSeq) by Next Generation Sequencing technologies. • Engel C, Loeffler M, Steinke V, et al. Risks of less common cancers in proven mutation carriers with lynch syndrome. J Clin Oncol. 2012;30:4409–4415. This paper further defines the risk for Lynch syndrome-related cancers through evaluation of a very large cohort of known Lynch syndrome mutation carriers; risks for less common cancers, such as breast cancer, were described. Ngeow J, Mester J, Rybicki LA, et al. Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. J Clin Endocrinol Metab. 2011;96:E2063–71. Vasen HF, Moslein G, Alonso A, et al. Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer). J Med Genet. 2007;44:353–62. Lindor NM, Rabe K, Petersen GM, et al. Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X. JAMA. 2005;293:1979–85. Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1. Nat Genet. 2009;41:112–7. Aaltonen LA, Peltomaki P, Leach FS, et al. Clues to the pathogenesis of familial colorectal cancer. Science. 1993;260:812–6. Ionov Y, Peinado MA, Malkhosyan S, Shibata D, Perucho M. Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis. Nature. 1993;363:558–61. Baudhuin LM, Burgart LJ, Leontovich O, et al. Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer. 2005;4:255–65. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004;96:261–8. Vasen HF, Mecklin JP, Khan PM, Lynch HT. The international collaborative group on hereditary non-polyposis colorectal cancer (ICG-HNPCC). Dis Colon Rectum. 1991;34:424–5. Rodriguez-Bigas MA, Boland CR, Hamilton SR, et al. A National Cancer Institute workshop on hereditary nonpolyposis colorectal cancer syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst. 1997;89:1758–62. Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116:1453–628. Trano G, Wasmuth HH, Sjursen W, Hofsli E, Vatten LJ. Awareness of heredity in colorectal cancer patients is insufficient among clinicians: a Norwegian population-based study. Colorectal Dis. 2009;11:456–61. Lindor NM, McMaster ML, Lindor CJ, Greene MH. Concise handbook of familial cancer susceptibility syndromes—second edition. J Natl Cancer Inst Monogr. 2008;38:1–93. Tan YY, McGaughran J, Ferguson K, et al. Improving identification of lynch syndrome patients: A comparison of research data with clinical records. Int J Cancer. 2013. doi:10.1002/ijc.27978. Kievit W, de Bruin JH, Adang EM, et al. Current clinical selection strategies for identification of hereditary non-polyposis colorectal cancer families are inadequate: a meta-analysis. Clin Genet. 2004;65:308–16. Sjursen W, Haukanes BI, Grindedal EM, et al. Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. J Med Genet. 2010;47:579–85. Hampel H, Frankel WL, Martin E, et al. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783–8. Cunningham JM, Christensen ER, Tester DJ, et al. Hypermethylation of the hMLH1 promoter in colon cancer with microsatellite instability. Cancer Res. 1998;58:3455–60. Kakar S, Burgart LJ, Thibodeau SN, et al. Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age. Cancer. 2003;97:1421–7. Domingo E, Laiho P, Ollikainen M, et al. BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet. 2004;41:664–8. Roberts ME, Riegert-Johnson DL, Thomas BC, et al. Screening for Muir–Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. J Genet Couns. 2012. doi:10.1007/s10897-012-9552-4.