nach oben

Erschienen in:

01.10.2009 | Letter to the Editor

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

verfasst von: Ava Kwong, L. P. Wong, H. N. Wong, F. B. F. Law, E. K. O. Ng, Y. H. Tang, W. K. Chan, L. S. Ho, K. H. Kwan, M. Poon, T. T. Wong, F. C. S. Leung, S. W. W. Chan, M. W. L. Ying, E. S. K. Ma, J. M. Ford

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

Einloggen, um Zugang zu erhalten

Excerpt

Breast cancer incidence in Asia has doubled over the past 10 years and is one of the highest in Hong Kong [1]. Studies in western populations have found differences in breast cancer epidemiology between Asian and Caucasian populations, potentially due to interactions between different lifestyle and genetic characteristics [2‐4]. As the genetic predisposition to breast cancer is increasingly understood, it has been suggested that there are differences in different ethnic populations. To date, only a few investigations on the spectrum of BRCA [5, 6] mutations in Chinese populations have been performed, most of which were performed in single institutions or a small number of medical centers [7‐9]. Some studied only the BRCA1 gene [10, 11] and most did not perform mutational screening using conventional full gene sequencing [12, 13]. …

The Hong Kong Cancer Registry (2005) Fast stats for female breast cancer. http://www3.ha.org.hk/cancereg/

John EM et al (2007) Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. JAMA 298(24):2869–2876. doi:10.1001/jama.298.24.2869 PubMedCrossRef

Fackenthal JD, Olopade OI (2007) Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations. Nat Rev Cancer 7(12):937–948. doi:10.1038/nrc2054 PubMedCrossRef

Li CI, Malone KE, Daling JR (2002) Differences in breast cancer hormone receptor status and histology by race and ethnicity among women 50 years of age and older. Cancer Epidemiol Biomarkers Prev 11(7):601–607PubMed

Katagiri T et al (1998) High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. J Hum Genet 43(1):42–48. doi:10.1007/s100380050035 PubMedCrossRef

Wooster R et al (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378(6559):789–792. doi:10.1038/378789a0 PubMedCrossRef

Song CG et al (2006) The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer. J Cancer Res Clin Oncol 132(10):617–626. doi:10.1007/s00432-006-0105-9 PubMedCrossRef

Zhi X et al (2002) BRCA1 and BRCA2 sequence variants in Chinese breast cancer families. Hum Mutat 20(6):474. doi:10.1002/humu.9083 PubMedCrossRef

Hu Z et al (2003) The analysis of BRCA1 mutations in eastern Chinese patients with early onset breast cancer and affected relatives. Hum Mutat 22(1):104. doi:10.1002/humu.9156 PubMedCrossRef

10.

Sng JH et al (2000) The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives. Br J Cancer 82(3):538–542. doi:10.1054/bjoc.1999.0960 PubMedCrossRef

11.

Tang NL et al (2001) Prevalence of breast cancer predisposition gene mutations in Chinese women and guidelines for genetic testing. Clin Chim Acta 313(1–2):179–185. doi:10.1016/S0009-8981(01)00671-4 PubMedCrossRef

12.

Li WF et al (2008) The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. Breast Cancer Res Treat 110(1):99–109. doi:10.1007/s10549-008-9708-3 PubMedCrossRef

13.

Chen W, et al. (2008) BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. Breast Cancer Res Treat. doi:10.1007/s10549-008-0066-6

14.

Zhou YZ et al (2004) Germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in China Han people. Zhonghua Yi Xue Za Zhi 84(4):294–298PubMed

15.

Ho GH et al (2000) Novel germline BRCA1 mutations detected in women in Singapore who developed breast carcinoma before the age of 36 years. Cancer 89(4):811–816. doi:10.1002/1097-0142(20000815)89:4<811::AID-CNCR13>3.0.CO;2-R PubMedCrossRef

16.

Nanda R et al (2005) Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. JAMA 294(15):1925–1933. doi:10.1001/jama.294.15.1925 PubMedCrossRef

17.

Andrulis IL et al (2002) Comparison of DNA- and RNA-based methods for detection of truncating BRCA1 mutations. Hum Mutat 20(1):65–73. doi:10.1002/humu.10097 PubMedCrossRef

18.

Sevilla C et al (2002) Testing for BRCA1 mutations: a cost-effectiveness analysis. Eur J Hum Genet 10(10):599–606. doi:10.1038/sj.ejhg.5200854 PubMedCrossRef

19.

Hendrickson BC et al (2005) Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20, 000 patients from hereditary breast/ovarian cancer families. Genes Chromosomes Cancer 43(3):309–313. doi:10.1002/gcc.20189 PubMedCrossRef

20.

Walsh T et al (2006) Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 295(12):1379–1388. doi:10.1001/jama.295.12.1379 PubMedCrossRef

21.

Hogervorst FB et al (2003) Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res 63(7):1449–1453PubMed

22.

Montagna M et al (2003) Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families. Hum Mol Genet 12(9):1055–1061. doi:10.1093/hmg/ddg120 PubMedCrossRef

23.

Tournier I et al (2004) Significant contribution of germline BRCA2 rearrangements in male breast cancer families. Cancer Res 64(22):8143–8147. doi:10.1158/0008-5472.CAN-04-2467 PubMedCrossRef

24.

Casilli F et al (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

25.

Sekine M et al (2001) Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. Clin Cancer Res 7(10):3144–3150PubMed

26.

Gutierrez-Enriquez S et al (2007) Screening for large rearrangements of the BRCA2 gene in Spanish families with breast/ovarian cancer. Breast Cancer Res Treat 103(1):103–107. doi:10.1007/s10549-006-9376-8 PubMedCrossRef

27.

Mazoyer S (2005) Genomic rearrangements in the BRCA1 and BRCA2 genes. Hum Mutat 25(5):415–422. doi:10.1002/humu.20169 PubMedCrossRef

Titel: A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer
verfasst von: Ava Kwong
L. P. Wong
H. N. Wong
F. B. F. Law
E. K. O. Ng
Y. H. Tang
W. K. Chan
L. S. Ho
K. H. Kwan
M. Poon
T. T. Wong
F. C. S. Leung
S. W. W. Chan
M. W. L. Ying
E. S. K. Ma
J. M. Ford
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/s10549-009-0385-2

Update Onkologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

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

Excerpt

Neu im Fachgebiet Onkologie

Erhebliches Risiko für Kehlkopfkrebs bei mäßiger Dysplasie

15% bedauern gewählte Blasenkrebs-Therapie

Erhöhtes Risiko fürs Herz unter Checkpointhemmer-Therapie

Costims – das nächste heiße Ding in der Krebstherapie?

Update Onkologie

Live-Webinar "Urologie und Sexualmedizin in der Praxis"

Springer Medizin

Excerpt

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

Weitere Artikel der Ausgabe 3/2009

Pegylated liposomal doxorubicin and trastuzumab as 1st and 2nd line therapy in her2/neu positive metastatic breast cancer: a multicenter phase II trial

Complementary and alternative therapy use before and after breast cancer diagnosis: the Pathways Study

Test of Hardy–Weinberg equilibrium in breast cancer case-control studies: an issue may influence the conclusions

Lymphatic drainage in the muscle and subcutis of the arm after breast cancer treatment

Immediate versus delayed zoledronic acid for prevention of bone loss in postmenopausal women with breast cancer starting letrozole after tamoxifen-N03CC

Do GnRH analogs protect against ovarian toxicity of chemotherapy?

Neu im Fachgebiet Onkologie

Erhebliches Risiko für Kehlkopfkrebs bei mäßiger Dysplasie

15% bedauern gewählte Blasenkrebs-Therapie

Erhöhtes Risiko fürs Herz unter Checkpointhemmer-Therapie

Costims – das nächste heiße Ding in der Krebstherapie?

Update Onkologie