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Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening

  1. Grazia Palomba Ph.D.1,†,
  2. Marina Pisano Ph.D.1,†,
  3. Antonio Cossu M.D.2,
  4. Mario Budroni M.D.3,
  5. Maria F. Dedola M.D.4,
  6. Antonio Farris M.D.5,
  7. Antonio Contu M.D.6,
  8. Paola Baldinu Ph.D.1,
  9. Francesco Tanda M.D.2,
  10. Giuseppe Palmieri M.D.1,‡,*

Article first published online: 26 JUL 2005

DOI: 10.1002/cncr.21298

Issue

Cancer

Cancer

Volume 104, Issue 6, pages 1172–1179, 15 September 2005

Additional Information

How to Cite

Palomba, G., Pisano, M., Cossu, A., Budroni, M., Dedola, M. F., Farris, A., Contu, A., Baldinu, P., Tanda, F. and Palmieri, G. (2005), Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening. Cancer, 104: 1172–1179. doi: 10.1002/cncr.21298

Author Information

  1. 1

    Institute of Biomolecular Chemistry-Sezione di Sassari, C.N.R., Alghero (SS), Italy

  2. 2

    Institute for Pathological Anatomy, Universitá di Sassari, Sassari, Italy

  3. 3

    Regional Epidemiology Center, Unitá Sanitaria Locale 1, Sassari, Italy

  4. 4

    Department of Radiotherapy, Universitá di Sassari, Sassari, Italy

  5. 5

    Department of Medical Oncology, Universitá di Sassari, Sassari, Italy

  6. 6

    Civilian Hospital, Azienda Unitá Sanitaria Locale 1, Sassari, Italy

  1. †

    The first two authors contributed equally to this work.

  2. ‡

    Fax: (011) 39 0793961036

*Istituto di Chimica Biomolecolare-Sezione di Sassari, C.N.R., Località Tramariglio-Alghero; 07040 Santa Maria La Palma (SS), Italy

Publication History

  1. Issue published online: 31 AUG 2005
  2. Article first published online: 26 JUL 2005
  3. Manuscript Accepted: 31 MAR 2005
  4. Manuscript Revised: 16 MAR 2005
  5. Manuscript Received: 10 NOV 2004

Funded by

  • Regione Autonoma della Sardegna
  • Ricerca Finalizzata Ministero della Salute
  • Fondazione Banco di Sardegna
  • Associazione Italiana Ricerca sul Cancro

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REFERENCES

  • 1
    Claus EB, Schildkraut JM, Thompson WD, Risch NJ. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996; 77: 2318–2324.
    Direct Link:
  • 2
    Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet. 1994; 343: 692–695.
  • 3
    Thompson D, Easton D, Breast Cancer Linkage Consortium. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet. 2001; 68: 410–419.
  • 4
    The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999; 91: 1310–1316.
  • 5
    Szabo C, Masiello A, Ryan JF, The BIC Consortium, Brody LC. The Breast Cancer Information Core: database design, structure, and scope. Hum Mutat. 2000; 16: 123–131.
    Direct Link:
  • 6
    Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet. 1996; 14: 185–187.
  • 7
    Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997; 336: 1401–1408.
  • 8
    Simard J, Tonin P, Durocher F, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nat Genet. 1994; 8: 392–398.
  • 9
    Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Res. 1996; 56: 3663–3665.
  • 10
    Thorlacius S, Olafsdottir G, Tryggvadottir, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet. 1996; 13: 117–119.
  • 11
    Vehmanen P, Friedman LS, Eerola H, et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Hum Mol Genet. 1997; 6: 2309–2315.
  • 12
    Huusko P, Juo SH, Gillanders E, et al. Genome-wide scanning for linkage in Finnish breast cancer families. Eur J Hum Genet. 2004; 12: 98–104.
  • 13
    Loman N, Johannsson O, Kristoffersson U, et al. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer. J Natl Cancer Inst. 2001; 93: 1215–1223.
  • 14
    Peelen T, van Vliet M, Petrij-Bosch A, et al. A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. Am J Hum Genet. 1997; 60: 1041–1049.
  • 15
    Petrij-Bosch A, Peelen T, van Vliet M, et al. BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet. 1997; 17: 341–345.
  • 16
    Verhoog LC, van den Ouweland AM, Berns E, et al. Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. Eur J Cancer. 2001; 37: 2082–2090.
  • 17
    Goelen G, Rigo A, Bonduelle M, De Greve J. BRCA 1/2 gene mutation testing-based cancer prevention and the moral concerns of different types of patients. Ann NY Acad Sci. 1999; 889: 240–243.
    Direct Link:
  • 18
    Gayther SA, Harrington P, Russell P, Kharkevich G, Garkavtseva RF, Ponder BA. Frequently occurring germ-line mutations of the BRCA1 gene in ovarian cancer families from Russia. Am J Hum Genet. 1997; 60: 1239–1242.
  • 19
    Gorski B, Byrski T, Huzarski T, et al. Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. Am J Hum Genet. 2000; 66: 1963–1968.
  • 20
    Ramus SJ, Kote-Jarai Z, Friedman LS, et al. Analysis of BRCA1 and BRCA2 mutations in Hungarian families with breast or breast-ovarian cancer. Am J Hum Genet. 1997; 60: 1242–1246.
  • 21
    Van Der Looij M, Szabo C, Besznyak I, et al. Prevalence of founder BRCA1 and BRCA2 mutations among breast and ovarian cancer patients in Hungary. Int J Cancer. 2000; 86: 737–740.
    Direct Link:
  • 22
    Tonin P, Weber B, Offit K, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med. 1996; 2: 1179–1183.
  • 23
    Szabo CI, King MC. Population genetics of BRCA1 and BRCA2. Am J Hum Genet. 1997; 60: 1013–1020.
  • 24
    National Human Genome Research Institute. Breast Cancer Information Core. Available at: http:/www.nchgr.nih.gov/Intramural_research/lab.
  • 25
    Budroni M, Cesaraccio R, Pirino D, et al. The Sassari Cancer Registry (1993–1997). In: Cancer incidence in five continents, volume VIII. Sassari: 2002.
  • 26
    ParkinDM, WhelanSL, FerlayJ, TeppoL, ThomasDB, editors. International Agency for Research on Cancer. Lyon: International Agency for Research on Cancer, 2002: 380–381.
  • 27
    Palmieri G, Palomba G, Cossu A, et al. BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling. Ann Oncol. 2002; 13: 1899–1907.
  • 28
    SobinLH, WittekindC, editors. TNM classification of malignant tumors, 5th ed. New York: John Wiley Sons, Inc., 1997: 1803–1804.
  • 29
    Pisano M, Cossu A, Persico I, et al. Identification of a founder BRCA2 mutation in Sardinia. Br J Cancer. 2000; 82: 553–559.
  • 30
    Tonin PN, Mes-Masson AM, Futreal PA, et al. Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. Am J Hum Genet. 1998; 63: 1341–1351.
  • 31
    Peto J, Collins N, Barfoot R, et al. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst. 1999; 91: 904–905.
  • 32
    Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet. 1998; 62: 676–689.
  • 33
    Malone KE, Daling JR, Neal C, et al. Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer. 2000; 88: 1393–1402.
    Direct Link:
  • 34
    Krainer M, Silva-Arrieta S, FitzGerald MG, et al. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer. N Engl J Med. 1997; 336: 1416–1421.
  • 35
    Hopper JL, Southey MC, Dite GS, et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study. Cancer Epidemiol Biomarkers Prev. 1999; 8: 741–747.
  • 36
    Anglian Breast Cancer Study Group. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer. 2000; 83: 1301–1308.
  • 37
    Papelard H, de Bock GH, van Eijk R, et al. Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients. Br J Cancer. 2000; 83: 719–724.
  • 38
    Syrjäkoski K, Vahteristo P, Eerola H, et al. Population-based study of BRCA1 and BRCA2 mutations in 1035 unselected Finnish breast cancer patients. J Natl Cancer Inst. 2000; 92: 1529–1531.
  • 39
    Thorlacius S, Sigurdsson S, Bjarnadottir H, et al. Study of a single BRCA2 mutation with high carrier frequency in a small population. Am J Hum Genet. 1997; 60: 1079–1084.
  • 40
    Thorlacius S, Struewing JP, Hartge P, et al. Population-based study of risk of breast cancer in carriers of BRCA2 mutation. Lancet. 1998; 352: 1337–1339.
  • 41
    Robson M, Dabney MK, Rosenthal G, et al. Prevalence of recurring BRCA mutations among Ashkenazi Jewish women with breast cancer. Genet Test. 1997; 1: 47–51.
  • 42
    Tonin PN, Perret C, Lambert JA, et al. Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history. Int J Cancer. 2001; 95: 189–193.
    Direct Link:
  • 43
    Hubert A, Peretz T, Manor O, et al. The Jewish Ashkenazi founder mutations in the BRCA1/BRCA2 genes are not found at an increased frequency in Ashkenazi patients with prostate cancer. Am J Hum Genet. 1999; 65: 921–924.
  • 44
    Vazina A, Baniel J, Yaacobi Y, et al. The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel. Br J Cancer. 2000; 83: 463–466.
  • 45
    Sinclair CS, Berry R, Schaid D, Thibodeau SN, Couch FJ. BRCA1 and BRCA2 have a limited role in familial prostate cancer. Cancer Res. 2000; 60: 1371–1375.
  • 46
    Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol. 2002; 20: 1480–1490.
  • 47
    Unger MA, Nathanson KL, Calzone K, et al. Screening for genomic rearrangements in families with breast and ovarian cancer identifies BRCA1 mutations previously missed by conformation sensitive gel electrophoresis or sequencing. Am J Hum Genet. 2000; 67: 841–850.
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