BRCA1 and BRCA2 genetic test in high risk patients and families: Counselling and management

Oncology Reports

Volumn 24, Issue 6, 2010, Pages 1661-1667

  Marchina, Eleonora ^a   Fontana, Maria Grazia ^a   Speziani, Michela ^b   Salvi, Alessandro ^a   Ricca, Giuseppe ^c   Di Lorenzo, Diego ^d   Gervasi, Maria ^d   Caimi, Luigi ^d   Barlati, Sergio ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b Calcinato   (Italy)

^c SPEDALI CIVILI   (Italy)

^d Civic Hospital of Brescia   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BREAST CANCER; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL;

EID: 78649421284     PISSN: 1021335X     EISSN: 17912431     Source Type: Journal    
DOI: 10.3892/or_00001031     Document Type: Article

References (41)

1. Parkin DM, Berry D and Aguila O: Global Cancer Statistic, 2002. CA Cancer J Clin 55: 74-108, 2005.
2. Jemal A, Siepel R, Ward E, Murray T, Xu J and Thun MJ: Cancer statistic, 2007. CA Cancer J Clin 57: 43-66, 2007.
3. Claus EB, Risch N and Thompson WD: Autosomal dominant inheritance of early-onset breast cancer: implication for risk prediction. Cancer 73: 643-651, 1994.
4. Miki Y, Swensen J, Shattuck-Eidens D, et al: A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66-71, 1994. (Pubitemid 24345325)
5. Wooster R, Bignelli G, Lancaster J, et al: Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789-792, 1995.
6. Antoniou AC and Easton DF: Models of genetic susceptibility to breast cancer. Oncogene 25: 5898-5905, 2006.
7. Bradbury AR and Olopade OI: Genetic susceptibility to breast cancer. Rev Endocr Metab Disord 8: 255-267, 2007.
8. Ford D, Easton DF, Bishop DT, Narod SA and Goldgar DE: Risk of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 343: 692-695, 1994.
9. Narod S, Ford D, Devilee P, et al: Genetic heterogeneity of breast and ovarian cancer revisited. Breast Cancer Linkage Consortium. Am J Hum Genet 54: 957-958, 1995.
10. Rebbeck TR and Domchek SM: Variation in breast cancer risk in BRCA1 and BRCA2 mutation carrier. Breast Cancer Res 10: 108, 2008.
11. Shattuck-Eidens D, Oliphiant A, McClurer M, et al: BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278: 1242-1250, 1997.
12. Santarosa M, Dolcetti R, Magri MD, et al: BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. Int J Cancer 83: 5-9, 1999. (Pubitemid 29409468)
13. Ottini L, D'Amico C, Noviello C, et al: BRCA1 and BRCA2 mutation in central and southern Italian patients. Breast Cancer Res 2: 307-310, 2000.
14. Parmigiani G, Berry D, Aguila O, et al: Determining carrier probabilities for breast cancer susceptibility gene BRCA1 and BRCA2. Am J Hum Genet 62: 145-158, 1998.
15. Berry DA, Iversen ES Jr, Gudbjartsson DF, et al: BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes. J Clin Oncol 20: 2701-2712, 2002.
16. Hoskins KF, Zwaagstra A and Ranz M: Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 107: 1769-1776, 2006.
17. Capalbo C, Ricevuto E, Vestri A, et al: Improving the accuracy of BRCA1/2 mutation prediction: validation of the novel country customized IC software. Eur J Hum Genet 14: 49-54, 2006.
18. Ready KY, Vogel KJ, Atchley DP, et al: Accuracy of the BRCAPRO model among women with bilateral breast cancer. Cancer 115: 725-730, 2009.
19. Van Harssel JJ, Van Roozendaal CE, Detisch Y, et al: Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone BRCA1/2 mutation detection. Fam Cancer 9: 193-201, 2009.
20. Nanda R, Schumm LP, Cummings S, et al: Genetic testing in an ethnically diverse cohort of high-risk women. JAMA 294: 1925-1933, 2005.
21. Stuppia L, DiFulvio P, Aceto G, et al: BRCA1 and BRCA2 mutation in breast/ovarian cancer patients from central Italy. Hum Mutat 22: 178-179, 2003.
22. Montagna M, Della Palma M, Menin C, et al: Genomic rearrangements account for more than one-third of the BRCA1 mutation in northern Italian breast/ovarian cancer families. Hum Mol Genet 12: 1055-1061, 2004.
23. Meiser B: Psychological impact of genetic testing for cancer susceptibility: an update of the literature. Psychooncology 14: 1060-1074, 2005.
24. Tutt A and Ashworth A: Can genetic testing guide treatment in breast cancer? Eur J Cancer 44: 2774-2780, 2008.
25. Hadden WE: Recommendations for the surveillance of young women at increased risk for breast cancer. Australas Radiol 51: 1-11, 2007.
26. Sardanelli F, Podo F, D'angelo G, et al: Multicenter comparative multimodality surveillance of women at genetic-familial high risk for breast cancer (HIBCRIT study): interim results. Radiology 242: 698-715, 2007.
27. Saslow D, Boetes C, Burke W, et al: American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin 57: 75-89, 2007. (Pubitemid 46535708)
28. Warner E, Messersmith H, Causer P, Eisen A, Shumak R and Plewes D: Systematic review: using magnetic resonance imaging screen women at high risk for breast cancer. Ann Intern Med 148: 671-679, 2008.
29. Hartmann LC, Schaid DJ, Woods JE, et al: Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 340: 77-84, 1999.
30. Metcalfe K, Lynch HT, Ghadirian P, et al: Controlateral breast cancer in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 22: 2328-2335, 2004. (Pubitemid 41115389)
31. Gross E, Arnold N, Pfeifer K, Bandick K and Kiechle M: Identification of specific BRCA1 and BRCA2 variants by DHPLC. Hum Mutat 16: 345-353, 2000.
32. Xiao W and Oefner PJ: l Denaturing high-performance chromatography: a review. Hum Mutat 17: 439-474, 2001.
33. Cremonesi L, Sterrini S, Fermo I, et al: Denaturing HPLC analysis of DNA deletions and insertions. Hum Mutat 22: 98-102, 2003.
34. Capalbo C, Ricevuto E, Vestri, A et al: BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models. Ann Oncol 17 (Suppl. 7): 34-40, 2006.
35. Fackenthal JD and Olopade OI: Breast cancer risk associated with BRCA1 and BRCA2 in diverse population. Nature 7: 937-948, 2007.
36. Fentiman IS, Fourquet A, Hortobagyi GN, et al: Male breast cancer. Lancet 367: 595-604, 2006.
37. Ottini L, Masala G, D'Amico C, et al: BRCA1 and BRCA2 mutation status and tumor characteristic in male breast cancer: a population-based study in Italy. Cancer Res 63: 342-347, 2003.
38. Walsh T, Casadei S, Coats KH, et al: Spectrum of mutation in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295: 13791-13388, 2006.
39. Veschi S, Aceto G, Scioletti AP, et al: High prevalence of BRCA1 deletion in BRCAPRO positive patients with high carrier probability. Ann Oncol 18 (Suppl. 6): 86-92, 2007.
40. Rebbeck TR, Friebel T, Lynch HT, et al: Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 22: 1055-1062, 2004. (Pubitemid 41095038)
41. Rebbeck TR, Kauff ND and Domchek S: Meta-analysis of risk reduction estimates associated with risk reduction salpingooophorectomy in BRCA1 or BRCA2 mutation carriers. J Natl Cancer Inst 101: 80-87, 2009.