The role of targetedBRCA1/BRCA2mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry-Reference-Cited by-同舟云学术

The role of targetedBRCA1/BRCA2mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry

Published:2014-07-26 Issue:1 Volume:88 Page:41-48
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Peixoto A.¹,Santos C.¹,Pinto P.¹,Pinheiro M.¹,Rocha P.¹,Pinto C.¹,Bizarro S.¹,Veiga I.¹,Principe A.S.¹,Maia S.¹,Castro F.²,Couto R.³,Gouveia A.⁴,Teixeira M.R.¹⁵

Affiliation:

1. Department of Genetics

2. Department of Surgical Oncology

3. Department of Medical Oncology

4. Department of Gynecology; Portuguese Oncology Institute; Porto Portugal

5. Biomedical Sciences Institute (ICBAS); University of Porto; Porto Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference12 articles.

1. The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal;Peixoto;Breast Cancer Res Treat,2009

2. International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation;Peixoto;Breast Cancer Res Treat,2011

3. De novo Alu element insertions targeted to a sequence common to the BRCA1 and BRCA2 genes;Teugels;Hum Mutat,2005

4. Systematic detection of pathogenic alu element insertions in NGS-based diagnostic screens: the BRCA1/BRCA2 example;De Brakeleer;Hum Mutat,2013

5. Multiplex SNaPshot for detection of BRCA1/2 common mutations in Spanish and Spanish related breast/ovarian cancer families;Filippini;BMC Med Genet,2007

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