nach oben

Erschienen in:

01.10.2009 | Letter to the Editor

Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics

verfasst von: Diana Torres, Muhammad U. Rashid, Antje Seidel-Renkert, Jeffrey N. Weitzel, Ignacio Briceno, Ute Hamann, Colombian Breast Cancer Study Group (COLBCS)

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 3/2009

Einloggen, um Zugang zu erhalten

Excerpt

The frequency and spectrum of germ line mutations in the high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 shows considerable variation by ethnic group. Most genetic epidemiological studies of the BRCA genes have been performed among Caucasian populations [1], with the exception of a few studies involving other ethnic groups, such as Hispanics [2‐4], Asians [5, 6], and African Americans [7‐9]. In most of these studies only the frequencies of sequence detectable BRCA mutations were reported and large genomic rearrangements including deletions and insertions of one or more exons, which account for 6–15% of all deleterious mutations in these genes have infrequently been considered [10‐12]. …

Szabo CI, King MC (1997) Population genetics of BRCA1 and BRCA2. Am J Hum Genet 60(5):1013–1020PubMed

Weitzel JN, Lagos V, Blazer KR, Nelson R, Ricker C, Herzog J, McGuire C, Neuhausen S (2005) Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 14(7):1666–1671. doi:10.1158/1055-9965.EPI-05-0072 PubMedCrossRef

Jara L, Ampuero S, Santibanez E, Seccia L, Rodríguez J, Bustamante M, Martínez V, Catenaccio A, Lay-Son G, Blanco R, Reyes JM (2006) BRCA1 and BRCA2 mutations in a South American population. Cancer Genet Cytogenet 166(1):36–45. doi:10.1016/j.cancergencyto.2005.08.019 PubMedCrossRef

Torres D, Rashid MU, Gil F, Umana A, Ramelli G, Robledo JF, Tawil M, Torregrosa L, Briceno I, Hamann U (2007) High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast Cancer Res Treat 103(2):225–232. doi:10.1007/s10549-006-9370-1 PubMedCrossRef

Rashid MU, Zaidi A, Torres D, Sultan F, Benner A, Naqvi B, Shakoori AR, Seidel-Renkert A, Farooq H, Narod S, Amin A, Hamann U (2006) Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. Int J Cancer 119(12):2832–2839. doi:10.1002/ijc.22269 PubMedCrossRef

Liede A, Narod SA (2002) Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2. Hum Mutat 20(6):413–424. doi:10.1002/humu.10154 PubMedCrossRef

Hughes C, Gomez-Caminero A, Benkendorf J, Kerner J, Isaacs C, Barter J, Lerman C (1997) Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk. Patient Educ Couns 32(1–2):51–62. doi:10.1016/S0738-3991(97)00064-5 PubMedCrossRef

Hughes C, Lerman C, Lustbader E (1996) Ethnic differences in risk perception among women at increased risk for breast cancer. Breast Cancer Res Treat 40(1):25–35. doi:10.1007/BF01806000 PubMedCrossRef

Croyle RT, Lerman C (1999) Risk communication in genetic testing for cancer susceptibility. J Natl Cancer Inst Monogr 25:59–66PubMed

10.

Gad S, Caux-Moncoutier V, Pages-Berhouet S, Gauthier-Villars M, Coupier I, Pujol P, Frénay M, Gilbert B, Maugard C, Bignon YJ, Chevrier A, Rossi A, Fricker JP, Nguyen TD, Demange L, Aurias A, Bensimon A, Stoppa-Lyonnet D (2002) Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families. Oncogene 21(44):6841–6847. doi:10.1038/sj.onc.1205685 PubMedCrossRef

11.

Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bézieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frébourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M (2006) The contribution of germline rearrangements to the spectrum of BRCA2 mutations. J Med Genet 43(9):e49. doi:10.1136/jmg.2005.040212 PubMedCrossRef

12.

Palma MD, Domchek SM, Stopfer J, Erlichman J, Siegfried JD, Tigges-Cardwell J, Mason BA, Rebbeck TR, Nathanson KL (2008) The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. Cancer Res 68(17):7006–7014. doi:10.1158/0008-5472.CAN-08-0599 PubMedCrossRef

13.

Ferla R, Calo V, Cascio S, Badalamenti G, Carreca I, Surmacz E, Colucci G, Bazan V, Russo A (2007) Founder mutations in BRCA1 and BRCA2 genes. Ann Oncol 18(Suppl 6):vi93–vi98. doi:10.1093/annonc/mdm234 PubMedCrossRef

14.

Weitzel JN, Lagos VI, Herzog JS, Judkins T, Hendrickson B, Ho JS, Ricker CN, Lowstuter KJ, Blazer KR, Tomlinson G, Scholl T (2007) Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families. Cancer Epidemiol Biomarkers Prev 16(8):1615–1620. doi:10.1158/1055-9965.EPI-07-0198 PubMedCrossRef

15.

Hamann U, Brauch H, Garvin AM, Bastert G, Scott RJ (1997) German family study on hereditary breast and/or ovarian cancer: germline mutation analysis of the BRCA1 gene. Genes Chromosomes Cancer 18(2):126–132. doi:10.1002/(SICI)1098-2264(199702)18:2<126:AID-GCC7>3.0.CO;2-4 PubMedCrossRef

16.

Hamann U, Haner M, Stosiek U, Bastert G, Scott RJ (1997) Low frequency of BRCA1 germline mutations in 45 German breast/ovarian cancer families. J Med Genet 34(11):884–888. doi:10.1136/jmg.34.11.884 PubMedCrossRef

17.

Hamann U, Liu X, Lange S, Ulmer HU, Benner A, Scott RJ (2002) Contribution of BRCA2 germline mutations to hereditary breast/ovarian cancer in Germany. J Med Genet 39(3):E12. doi:10.1136/jmg.39.3.e12 PubMedCrossRef

Titel: Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
verfasst von: Diana Torres
Muhammad U. Rashid
Antje Seidel-Renkert
Jeffrey N. Weitzel
Ignacio Briceno
Ute Hamann
Colombian Breast Cancer Study Group (COLBCS)
Publikationsdatum: 01.10.2009
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 3/2009
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-009-0383-4

Springer Medizin

Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics

Excerpt

Neu im Fachgebiet Onkologie

Erhöhte Mortalität bei postpartalem Brustkrebs

Hypertherme Chemotherapie bietet Chance auf Blasenerhalt

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

Bessere Prognose mit links- statt rechtsseitigem Kolon-Ca.

Update Onkologie

Springer Medizin

Excerpt

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 3/2009

Tolerability of and adherence to combination oral therapy with gefitinib and capecitabine in metastatic breast cancer

Quantitative bioimpedance spectroscopy for the assessment of lymphoedema

Tamoxifen induces regression of estradiol-induced mammary cancer in the ACI.COP-Ept2 rat model

A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy

Measuring lymphedema in patients with breast cancer: go with the flow?

Neu im Fachgebiet Onkologie

Erhöhte Mortalität bei postpartalem Brustkrebs

Hypertherme Chemotherapie bietet Chance auf Blasenerhalt

Ein Drittel der jungen Ärztinnen und Ärzte erwägt abzuwandern

Bessere Prognose mit links- statt rechtsseitigem Kolon-Ca.

Update Onkologie