Hereditary cancer risk assessment: essential tools for a better approach

Hereditary Cancer in Clinical Practice

Maria Del Pilar Estevez Diz¹  Israel Gomy¹ 

[1] Instituto do Câncer do Estado de São Paulo da Faculdade de Medicina da Universidade de São Paulo, Av. Dr. Arnaldo, 251, Cerqueira César, São Paulo, Brazil

关键词: Counseling;    Hereditary cancer;    Genetic testing;    Susceptibility;    Germline;   

Others  :  805915
DOI  :  10.1186/1897-4287-11-16

 received in 2013-06-26, accepted in 2013-10-21,  发布年份 2013

【 摘 要 】

Hereditary cancer risk assessment (HCRA) is a multidisciplinary process of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer, based on personal and family history. It includes genetic counseling, testing and management of at-risk individuals so that they can make well-informed choices about cancer surveillance, surgical treatment and chemopreventive measures, including biomolecular cancer therapies. Providing patients and family members with an appropriate HCRA will contribute to a better process of making decisions about their personal and family risks of cancer. Following individuals at high risk through screening protocols, reassuring those at low risk, and referring those at increased risk of hereditary cancer to a cancer genetics center may be the best suitable approach of HCRA.

【 授权许可】

   
2013 Gomy and Estevez Diz; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Stadler ZK, Tom P, Robson ME, Weitzel JN, Kauff ND, Hurley KE, Devlin V, Gold B, Klein RJ, Offit K: Genome-wide association studies of cancer. J Clin Oncol 2010, 28:4255-4267.
• [2]Robson ME, Storm CD, Weitzel J, Wollins DS, Offit K: American society of clinical oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 2010, 28:893-901.
• [3]Trepanier A, Ahrens M, McKinnon W, Peters J, Stopfer J, Grumet SC, Manley S, Culver JO, Acton R, Larsen-Haidle J, Correia LA, Bennett R, Pettersen B, Ferlita TD, Costalas JW, Hunt K, Donlon S, Skrzynia C, Farrell C, Callif-Daley F, Vockley CW: Genetic cancer risk assessment and counseling: recommendations of the National society of genetic counselors. J Genet Couns 2004, 13:83-114.
• [4]Oncology Nursing Society: Role of the oncology nurse in cancer genetic counseling. http://www.ons.org webcite
• [5]Weitzel JN, Blazer KR, Mac Donald DJ, Culver OJ, Offit K: Genetics, genomics and risk assessment: state of the art and future directions in the era of personalized medicine. CA Cancer J Clin 2011, 61:327-359.
• [6]Couch F, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, Rebbeck T, Weber BL: BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 1997, 336:1409-1415.
• [7]Lindor NM, Johnson KJ, Harvey H, Shane Pankratz V, Domchek SM, Hunt K, Wilson M, Cathie Smith M, Couch F: Predicting BRCA1 and BRCA2 gene mutationcarriers: comparison of PENN II model to previous study. Fam Cancer 2010, 9:495-502.
• [8]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 2002, 20:1480-1490.
• [9]Berry DA, Iversen ES Jr, Gudbjartsson DF, Hiller EH, Garber JE, Peshkin BN, Lerman C, Watson P, Lynch HT, Hilsenbeck SG, Rubinstein WS, Hughes KS, Parmigiani G: BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 2002, 20:2701-2712.
• [10]Berry DA, Parmigiani G, Sanchez J, Schildkraut J, Winer E: Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997, 89:227-238.
• [11]Parmigiani G, Berry D, Aguilar O: Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2. Am J Hum Genet 1998, 62:145-158.
• [12]Tyrer J, Duffy SW, Cuzick J: A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 2004, 23:1111-1130.
• [13]Antoniou AC, Pharoah PP, Smith P, Easton DF: The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer 2004, 91:1580-1590.
• [14]Wijnen JT, Vasen HFA, Khan PM, Zwinderman AH, van der Klift H, Mulder A, Tops C, Møller P, Fodde R: Clinical findings with implications for genetic testing in families with clustering of colorectal cancer. N Engl J Med 1998, 339:511-518.
• [15]Chen S, Wang W, Lee S, Nafa K, Lee J, Romans K, Watson P, Gruber SB, Euhus D, Kinzler KW, Jass J, Gallinger S, Lindor NM, Casey G, Ellis N, Giardiello FM, Offit K, Parmigiani G: Colon cancer family registry: prediction of germline mutations and cancer risk in the Lynch syndrome. JAMA 2006, 296:1479-1487.
• [16]Barnetson RA, Tenesa A, Farrington SM, Nicholl ID, Cetnarskyj R, Porteous ME, Campbell H, Dunlop MG: Identification and survival of carriers of mutations in DNA mismatchrepair genes in colon cancer. N Engl J Med 2006, 354:2751-2763.
• [17]Kastrinos F, Steyerberg EW, Mercado R, Balmaña J, Holter S, Gallinger S, Siegmund KD, Church JM, Jenkins MA, Lindor NM, Thibodeau SN, Burbidge LA, Wenstrup RJ, Syngal S: The PREMM(1,2,6) model predicts risk of MLH1, MSH2, and MSH6 germline mutations based on cancer history. Gastroenterology 2011, 140:73-81.
• [18]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, 116:1453-1456.
• [19]Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA, Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S: Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst 2004, 96:261-268.
• [20]Li PP, Fraumeni JF: Soft tissue sarcomas, breast cancer and other neoplasms: a familial syndrome? Ann Int Med 1969, 71:747-752.
• [21]Chompret A, Brugieres L, Ronsin M, Gardes M, Dessarps-Freichey F, Abel A, Hua D, Ligot L, Dondon MG, Bressac-de Paillerets B, Frébourg T, Lemerle J, Bonaïti-Pellié C, Feunteun J: P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br J Cancer 2000, 82:1932-1937.
• [22]Eng C: Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet 2000, 37:828-830.
• [23]Tan MH, Mester J, Peterson C, Yang Y, Chen JL, Rybicki LA, Milas K, Pederson H, Remzi B, Orloff MS, Eng C: 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.
• [24]Wang W, Niendorf KB, Patel D, Blackford A, Marroni F, Sober AJ, Parmigiani G, Tsao H: Estimating CDKN2A carrier probability and personalizing cancer risk assessments in hereditary melanoma using MelaPRO. Cancer Res 2010, 70:552-559.
• [25]Dinh TA, Rosner BI, Atwood JC, Boland CR, Syngal S, Vasen HF, Gruber SB, Burt RW: Health benefits and cost-effectiveness of primary genetic screening for Lynch syndrome in the general population. Cancer Prev Res (Phila) 2011, 4:9-22.
• [26]Kwon JS, Gutierrez-Barrera AM, Young D, Sun CC, Daniels MS, Lu KH, Arun B: Expanding the criteria for BRCA mutation testing in breast cancer survivors. J Clin Oncol 2010, 28:4214-4220.
• [27]National Comprehensive Cancer Network: NCCN practice guidelines V.1.2013: genetic/familial high-risk assessment: breast and ovarian. Fort Washington, PA: National Comprehensive Cancer Network; 2013. http://www.nccn.org webcite
• [28]National Comprehensive Cancer Network: NCCN practice guidelines V.2.2012: colorectal cancer screening. Fort Washington, PA: National Comprehensive Cancer Network; 2012. http://www.nccn.org webcite
• [29]Hampel H, Sweet K, Westman JA, Offit K, Eng C: Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet 2004, 41:81-91.
• [30]Gail MH, Brinton LA, Byar DP, Corle DK, Green SB, Schairer C, Mulvihill JJ: Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989, 81:1879-1886.
• [31]Claus EB, Risch N, Thompson WD: Autosomal dominant inheritance of earlyonset breast cancer: implications for risk prediction. Cancer 1994, 73:643-651.
• [32]National Cancer Institute (NCI): Risk factor monitoring and methods. http://appliedresearch.cancer.gov/about/rfmmb/research.html webcite
• [33]Fletcher O, Houlston RS: Architecture of inherited susceptibility to common cancer. Nature Rev Cancer 2010, 10:353-361.
• [34]National Institute for Health and Care Excellence (NICE): Classification and care of people at risk of familial breast cancer and management of breast cancer and related risks in people with a family history of breast cancer. http://guidance.nice.org.uk/cg164 webcite
• [35]Garber J, Zon R, Weitzel J: Genetic counseling: an indispensable step in the genetic testing process. J Oncol Pract 2008, 4(2):96-98.
• [36]Hodgson SV, Foulkes WD, Eng C, Maher ER: A practical guide to human cancer genetics. 3rd edition. Cambridge, UK: Cambridge University Press; 2007.
• [37]Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O’Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013, 15(7):565-574.
• [38]Ministério da Saúde. Instituto Nacional de Câncer (INCA): Rede nacional de câncer familial: manual operacional. Rio de Janeiro, Brazil: Coordenação de Educação (CEDC); 2009.