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ISSN 1560-4381 (Print)

2012, Number 2

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Correo Científico Médico 2012; 16 (2)

Genetic Assessment on Breast Cancer

Álvarez EOA, Cruz MT, Osorio MC, Cardet EM, Díaz AMT

Language: Spanish
References: 30
Page:
PDF size: 180.26 Kb.


ABSTRACT

The breast cancer is a malignant neoplasm and according to its etiology it is classified in sporadic or hereditary. The cause of the hereditary cancer is a mutation of germline in the tumoral suppressors gene and the most frequent one is located in BRAC1 and BRAC2 gene, which are the most frequently found. The carriers of these genes show an increase of the risk in developing cancer. The family history is the essential tool for their identification; also exist the qualitative criterion of the American Society of Clinical Oncology (ASCO) and the different mathematical models which are very useful in the cancer risk estimates calculation. In the individuals with the probability of carrier a mutation its necessary value for the genetic test. The conventional prevention is very important in these cases should begin at 25 years of age. The genetic counselling is considered very necessary in preventing and management of this disease.


REFERENCES

  1. 1 Ashton Prolla P. Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care. BMC Cancer. 2009; 9:283.

  2. 2 Eberl MD, Sugan A, Farrel C. Patients with a family history of cancer: identification and management. J Am Board Fam Medicine. 2005:18:211-7.

  3. 3 Rimon DL, Connor JM, Pyeritz RE, Corp BR. Emery and Rimoin’s. Principles and Practice of Medical Genetics. 4th Ed. New York: Churchill Livingstone; 2002.

  4. 4 De Vita VT, Hellman S, Rosemberg SA. Principles and practice of Oncology. 6th Ed. Philadelphia: Lippincott Williams and Wilkons; 2001.

  5. 5 Huiyan M, Katherine DH, Jane SH. Pregnancy related factors and the risk of breast carcinoma in situ and invasive breast cancer among postmenopausal women in the California Teachers Study cohort. Breast Cancer Res. 2010; 12(3):35.

  6. 6 Allain DC. Genetic counseling and testing for common hereditary breast cancer syndromes: a paper from the 2007 William Beaumont hospital symposium on molecular pathology. J Mol Diagn. 2008; 10(5):383-95.

  7. 7 Stojadinovic A, Summers Th, Eberhardt J .Consensus recommendations for advancing breast cancer: Risk identification and screening in ethnically diverse younger women. J Canc. 2011; 2:210-27.

  8. 8 Holloway SM, Bernhard B, Campbell H. Family Inequality of use of cancer genetics services by members of breast, ovarian and colorectal cancer families in South East Scotland. Cancer. 2008; 7(3):259-64.

  9. 9 Guirguis-Blake J .Am Cancer genetic risk assessment for individuals at risk of familial breast cancer. Fam Physician. 2008; 77(4):449-50.

  10. 10 Da Costa EC, Vargas FR, Moreira AS. Founder effect of the BRCA1 5382 insC mutationin Brazilian patients with hereditary breast ovary cancer syndrome. Cancer Genet Cytogenet. 2008; 184: 62-6.

  11. 11 Garber JE, Offirt K. Hereditary cancer predisposition syndrome. J Clin Oncol. 2005; 23:275-292.

  12. 12 Kathleen E. Malone Colin B, Begg Robert W. Population based study of the risk of second primary contralateral breast cancer associated with carrying a mutation in BRCA1 or BRCA2. J Clin Oncol. 2010; 28(14): 2404-2410.

  13. 13 Murff HJ, Byrne D, Syngal S. Cancer risk assessment: Quality and impact of the family history interview. Am J Prev Medicine. 2004; 27:239-45.

  14. 14 Roth FL, Camey SA, Caleffi M. Consistency of self-reported first-degree family history of cancer: a population-based study. Familial Cancer. 2009; 8(3):195–202.

  15. 15 Ramsey SD, Yoon P, Moonesinghe M. Population-based study of the prevalence of family history of cancer: Implications for cancer screening and prevention. Genet Med. 2006; 8:571–575.

  16. 16 Pastor E, Soto MA. Cáncer de mama/ovario hereditario. Rev CNEM. 2009; (1).

  17. 17 Holloway S, Porteous M, Cetnarskyj R. Long-term attendance at follow-up of women assessed as being at increased risk of developing breast cancer in south-east Scotland. Community Genet. 2007; 10(4):252-60.

  18. 18 ASCO .Subcommittee on Genetic Testing for cancer susceptibility. Statement of the American Society of Clinical Oncology: Genetic Testing for Cancer Susceptibility. J Clin Oncol. 2006; 14:1730-6.

  19. 19 Milne RL, Osorio A, Cajal TR .The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain. Clin Cancer Res. 2008; 14(9); 2861-9.

  20. 20 Holloway SM, Bernhard B, Campbell H. Uptake of testing for BRCA1/2 mutations in South East Scotland. Eur J Hum Genet. 2008 Aug; 16(8):906-12.

  21. 21 Hwang SM, Lee ES, Shin SH. Genetic counseling can influence the course of a suspected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrome with a germline mutation in the TP53 gene. Korean J Lab Med. 2008 Dec; 28(6):493-7.

  22. 22 Meiser B, Tucker K, Friedlander M. Genetic counseling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda. Breast Cancer Res. 2008; 10(6):216.

  23. 23 Caruso A, Vigna C, Maggi G. The withdrawal from oncogenetic counseling and testing for hereditary and familial breast and ovarian cancer. A descriptive study of an Italian sample. J Exp Clin Cancer Res. 2008; 24; 27:75.

  24. 24 Finlay E, Stopfer JE, Burlingame E. Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genet Test. 2008; 12(1):81-91.

  25. 25 Ockhuysen-Vermey CF, Henneman L, Van Asperen CJ. Design of the BRISC study: a multicentre controlled clinical trial to optimize the ommunication of breast cancer risks in genetic counselling. BMC Cancer. 2008; 8:283.

  26. 26 Fernando Gómez D. Evaluación cuantitativa del riesgo de cáncer de mama. Rev. Med. Clin. Condes. 2006; 17(4):149-63.

  27. 27 Euhus DM, Litch M, Huth J. Limitations of the Gail model in the specialized breast cancer risk. Assessment clinic. The breast journal 2002; 8(1); 23-7.

  28. 28 Euhus DM. Understanding mathematical models for breast cancer risk assessment and counseling. The breast journal 2001; 7(4); 224-32.

  29. 29 Antoniou AC, Pharoah PPD, Smith P. The BOADICEA model of genetic susceptibility to breast and ovarian cancer. Br J Cancer. 2004; 91: 1580-90.

  30. 30 Maass N. Introduction of a German genetic counseling program for hereditary breast and ovarian cancer. Jpn J Clin Oncol. 1999; 29(4):234-6.




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