Breast cancer detection among Irish BRCA1 & BRCA2 mutation carriers: a population-based study
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  • 作者:E. M. Walsh ; M. P. Farrell ; C. Nolan…
  • 关键词:BRCA1/2 mutation ; Breast cancer ; Screening ; Interval cancer
  • 刊名:Irish Journal of Medical Science
  • 出版年:2016
  • 出版时间:February 2016
  • 年:2016
  • 卷:185
  • 期:1
  • 页码:189-194
  • 全文大小:358 KB
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    2.Breast Cancer Incidence, Mortality, Treatment and Survival in Ireland: 1994–2009. National Cancer Registry, Cork, Ireland 2012. http://​www.​ncri.​ie/​sites/​ncri/​files/​pubs/​BreastCancerInci​denceMortalityTr​eatmentandSurviv​alinIreland1994-2009.​pdf . Accessed 25 July 2014
    3.Balmana J, Diez O, Castiglione M (2009) BRCA in breast cancer: ESMO Clinical Recommendations. Ann Oncol 20:19–20. doi:10.​1093/​annonc/​mdp116 PubMed CrossRef
    4.Claus EB, Risch N, Thompson WD (1994) Autosomal dominant inheritance of early-onset breast cancer; implications for risk prediction. Cancer 73:643–651. doi:10.​1002/​1097-0142(19940201)73:​3<643:​aid-cncr2820730323>3​.​0.​co;2-5 PubMed CrossRef
    5.Antoniou A, Pharoah P, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130. doi:10.​1086/​375033 PubMed PubMedCentral CrossRef
    6.Warner E, Plewes DB, Hill KA et al (2004) Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography and clinical breast exam. JAMA 292:1317–1325. doi:10.​1001/​jama.​292.​11.​1317 PubMed CrossRef
    7.Brekelmans CT, Seynaeve C, Bartels CC et al (2001) Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. J Clin Oncol 19:924–930PubMed
    8.Komenaka IK, Ditkoff BA, Joseph KA et al (2004) The development of interval breast malignancies in patients with BRCA mutations. Cancer 100:2079–2083. doi:10.​1002/​cncr.​20221 PubMed CrossRef
    9.National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian. (Version 2.2014). http://​www.​nccn.​org/​professionals/​physician_​gls/​pdf/​genetics_​screening.​pdf . Accessed 17 Dec 2014
    10.Kuhl CK, Schrading S, Leutner CC et al (2005) Mammography, breast ultrasound, and magnetic resonance imaging for surveillance of women at high familial risk for breast cancer. J Clin Oncol 23:8469–8476. doi:10.​1200/​jco.​2004.​00.​4960 PubMed CrossRef
    11.Passpaeruma K, Warner E, Causer PA et al (2012) Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer 107:24–30. doi:10.​1038/​bjc.​2012.​204 CrossRef
    12.Meijers-Heijboer H, van Geel B, van Putten WL et al (2001) Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 345:159–164. doi:10.​1056/​nejm200107193450​301 PubMed CrossRef
    13.Le-Petross H, Whitman G, Atchley D et al (2011) Effectiveness of alternating mammography and magnetic resonance imaging for screening women with deleterious BRCA mutations at high risk of breast cancer. Cancer 117:3900–3907. doi:10.​1002/​cncr.​25971 PubMed CrossRef
    14.Scheuer L, Kauff N, Robson M et al (2002) outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers. J Clin Oncol 20:1260–1268. doi:10.​1200/​jco.​20.​5.​1260 PubMed CrossRef
    15.Robson M, Gilewski T, Haas B et al (1998) BRCA-associated breast cancer in young women. J Clin Oncol 16:1642–1649PubMed
    16.Verhoog LC, Brekelmans CTM, Seynaeve C et al (1998) Survival and tumor characteristics of breast cancer patients with germline mutations of BRCA1. Lancet 351:316–321. doi:10.​1016/​S0140-6736(97)07065-7 PubMed CrossRef
    17.Johannsson OT, Ranstam J, Borg A et al (1998) Survival of BRCA1 breast and ovarian cancer patients: a population-based study from southern Sweden. J Clin Oncol 16:397–404PubMed
    18.Carroll PA, Nolan C, Clarke R et al (2011) Surgical management of an Irish cohort of BRCA-mutation carriers. Breast 20:419–423. doi:10.​1016/​j.​breast.​2011.​04.​005 PubMed CrossRef
    19.Evans DG, Barwell J, Eccles DM et al (2014) The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services. Breast Cancer Res 16:442–447. doi:10.​1186/​s13058-014-0442-6 PubMed PubMedCentral CrossRef
  • 作者单位:E. M. Walsh (1)
    M. P. Farrell (2)
    C. Nolan (3)
    F. Gallagher (2) (3)
    R. Clarke (3)
    J. A. McCaffrey (1)
    M. J. Kennedy (4)
    M. Barry (5)
    M. R. Kell (5)
    D. J. Gallagher (2) (3)

    1. Medical Oncology Department, Mater Misericordiae University Hospital, Dublin 7, Ireland
    2. Cancer Genetics Service, Mater Misericordiae and Mater Private Hospitals, Dublin 7, Ireland
    3. Cancer Genetics Service, St. James’s Hospital, Dublin 8, Ireland
    4. Medical Oncology Department, St James’s Hospital, Dublin 8, Ireland
    5. Surgery Department, Mater Misericordiae University Hospital, Dublin 7, Ireland
  • 刊物主题:Internal Medicine; General Practice / Family Medicine;
  • 出版者:Springer London
  • ISSN:1863-4362
文摘
Background High-risk breast cancer screening for BRCA1/2 mutation carriers with clinical breast exam, mammography and MRI has reported sensitivity of 100 %, but BRCA1/2 mutation carriers still present with interval cancers.

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