BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: A population-based study

Breast

Volumn 16, Issue 3, 2007, Pages 280-292

  Musolino, Antonino ^a   Bella, Maria A ^a   Bortesi, Beatrice ^a   Michiara, Maria ^a   Naldi, Nadia ^a   Zanelli, Paola ^a   Capelletti, Marzia ^a   Pezzuolo, Debora ^a   Camisa, Roberta ^a   Savi, Mario ^a   Neri, Tauro M ^a   Ardizzoni, Andrea ^a  

^a UNIVERSITY HOSPITAL OF PARMA   (Italy)

Author keywords

BRCA; Breast cancer phenotype; Early onset; Genetic testing; Hereditary breast cancer; Molecular markers

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; EPIDERMAL GROWTH FACTOR RECEPTOR 2; ESTROGEN RECEPTOR; MOLECULAR MARKER; PROGESTERONE RECEPTOR; PROTEIN P53;

ADULT; ARTICLE; BREAST CANCER; BREAST CARCINOMA; CANCER GRADING; CANCER RELAPSE; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; GERM LINE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; ITALY; MAJOR CLINICAL STUDY; ONSET AGE; OVERALL SURVIVAL; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; PROBABILITY; PROGNOSIS; SAMPLE SIZE;

EID: 34249088685     PISSN: 09609776     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.breast.2006.12.003     Document Type: Article

References (35)

1. Robson M., Gilewski T., Haas B., Levin D., Borgen P., Rajan P., et al. BRCA-associated breast cancer in young women. J Clin Oncol 16 (1998) 1642-1649
2. Ford D., Easton D.F., Bishop D.T., Narod S.A., and Goldgar D.E. Risks of cancer in BRCA 1-mutation carriers. Lancet 343 (1994) 692-695
3. Struewing J.P., Hartge P., Wacholder S., Baker S.M., Berlin M., McAdams M., et al. The risk of cancer associated with specific mutations of BRCA 1 and BRCA 2 among Ashkenazi Jews. N Engl J Med 336 (1997) 1401-1408
4. Krainer M., Silva-Arrieta S., Fitzgerald M.G., Shimada A., Ishioka C., Kanamaru R., et al. Differential contributions of BRCA 1 and BRCA 2 to early-onset breast cancer. N Engl J Med 336 (1997) 1416-1421
5. Armes J.E., Trute L., White D., Southey M.C., Hammet F., Tesoriero A., et al. Distinct molecular pathogeneses of early-onset breast cancers in BRCA 1 and BRCA 2 mutation carriers: a population-based study. Cancer Res 59 (1999) 2011-2017
6. Marcus J.N., Watson P., Page D.L., Narod S.A., Lenoir G.M., Tonin P., et al. Hereditary breast cancer: pathobiology, prognosis, and BRCA 1 and BRCA 2 gene linkage. Cancer 77 (1996) 697-709
7. Karp S.E., Tonin P.N., Begin L.R., Martinez J.J., Zhang J.C., Pollak M.N., et al. Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women. Cancer 80 (1997) 435-441
8. Perou C.M., Sorlie T., Eisen M.B., van de Rijn M., Jeffrey S.S., Rees C.A., et al. Molecular portraits of human breast tumours. Nature 406 (2000) 747-752
9. Claus E.B., Risch N.J., and Thompson W.D. Age at onset as an indicator of familial risk of breast cancer. Am J Epidemiol 131 (1990) 961-972
10. Shattuck-Eidens D., Oliphant A., McClure M., McBride C., Gupte J., Rubano T., et al. Complete DNA sequence analysis of BRCA 1 in 798 women at high risk for susceptibility mutations. JAMA 278 (1997) 1242-1250
11. Wagner T., Stoppa-Lyonnet D., Fleischmann E., Muhr D., Pages S., Sandberg T., et al. Denaturing high performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62 (1999) 369-376
12. Kaplan E.L., and Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 53 (1958) 457-481
13. Mantel N. Evaluation of survival data and two new rank order statistics arising in its consideration. Cancer Chemother Rep 50 (1966) 163-170
14. Freeman D.H. Applied categorical data analysis (1987), Marcel Dekker, New York
15. Cox D.R. Regression models and life tables. J R Stat Soc B 34 (1972) 187-220
16. Stuppia L., Di Fulvio P., Aceto G., Pintor S., Veschi S., Gatta V., et al. BRCA1 and BRCA2 mutations in breast/ovarian cancer patients from central Italy. Hum Mutat 22 (2003) 178-179
17. Caligo M.A., Ghimenti C., Cipollini G., Ricci S., Brunetti I., Marchetti V., et al. BRCA1 germline mutational spectrum in Italian families from Tuscany: a high frequency of novel mutations. Oncogene 13 (1996) 1483-1488
18. Ottini L., D'Amico C., Noviello C., Lauro S., Lalle M., Fornarini G., et al. BRCA1 and BRCA2 mutations in central and southern Italian patients. Breast Cancer Res 2 (2000) 307-310
19. Breast Cancer Information Core (BIC) 〈http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/BIC〉 2004.
20. Phelan C.M., Dapic V., Tice B., Favis R., Kwan E., Barany F., et al. Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet 42 (2005) 138-146
21. Mazoyer S., Dunning A.M., Serva O., Dearden J., Puget N., Healey C.S., et al. A polymorphic stop codon in BRCA2. Nat Genet 14 (1996) 253-254
22. Krainer M., Silva-Arrieta S., FitzGerald M.G., Shimada A., Ishioka C., Kanamaru R., et al. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med 336 (1997) 1416-1421
23. Martin S.T., Matsubayashi H., Rogers C.D., Philips J., Couch F.J., Brune K., et al. Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer. Oncogene 24 (2005) 3652-3656
24. Sørlie T., Tibshirani R., Parker J., Hastie T., Marron J.S., Nobel A., et al. Repeated observation of breast tumor subtypes in independent gene expression data sets. Proc Natl Acad Sci USA 100 (2003) 8418-8423
25. Foulkes W.D., Stefansson I.M., Chappuis P.O., Begin L.R., Goffin J.R., Wong N., et al. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer. J Natl Cancer Inst 95 (2003) 1482-1485
26. Musolino A., Naldi N., Michiara M., Bella M.A., Zanelli P., Bortesi B., et al. A breast cancer patient from Italy with germline mutations in both the BRCA 1 and BRCA 2 genes. Breast Cancer Res Treat 91 (2005) 203-205
27. Friedman E., Bar-Sade Bruchim R., Kruglikova A., Risel S., Levy-Lahad E., Halle D., et al. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes. Am J Hum Genet 63 (1998) 1224-1227
28. Randall T.C., Bell K.A., Rebase B.A., Rubin S.C., and Boyd J. Germline mutations of the BRCA1 and BRCA2 genes in a breast and ovarian cancer patient. Gynecol Oncol 70 (1998) 432-434
29. Bell D.W., Erban J., Sgroi D.C., and Haber D.A. Selective loss of heterozygosity in multiple breast cancers from a carrier of mutations in both BRCA1 and BRCA2. Cancer Res 62 (2002) 2741-2743
30. Hedenfalk I., Duggan D., Chen Y., Radmacher M., Bitter M., Simon R., et al. Gene-expression profiles in hereditary breast cancer. N Engl J Med 344 (2001) 539-548
31. Turchetti D., Cortesi L., Federico M., Bretoni C., Mangone L., Ferrari S., et al. BRCA 1 mutations and clinicopathological features in a sample of Italian women with early onset breast cancer. Eur J Cancer 36 (2000) 2083-2089
32. Porter D.E., Dixon M., Smyth E., and Steel C.M. Breast cancer survival in BRCA 1 carriers. Lancet 341 (1993) 184-185
33. Porter D.E., Cohen B.B., Wallace M.R., Smyth E., Chetty U., Dixon J.M., et al. Breast cancer incidence, penetrance, and survival in probable carriers of BRCA 1 gene mutation in families linked to BRCA1 on chromosome 17q12-21. Br J Surg 81 (1994) 1512-1515
34. Haffty B.G., Harrold E., Khan A.J., Pathare P., Smith T.E., Turner B.C., et al. Outcome of conservatively managed early-onset breast cancer by BRCA 1/2 status. Lancet 359 (2002) 1471-1477
35. Foulkes W.D., Brunet J.-S., Stefansson I.M., Straume O., Chappuis P.O., Begin L.R., et al. The prognostic implication of the basal-like (cyclin Ehigh/p27low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer. Cancer Res 64 (2004) 830-835