caa a22 4500 445331275 CHVBK 20180317142738.0 cr unu---uuuuu 170323e20110601xx s 000 0 eng 10.1007/s10689-011-9429-y doi (NATIONALLICENCE)springer-10.1007/s10689-011-9429-y A novel de novo BRCA1 mutation in a Chinese woman with early onset breast cancer [Elektronische Daten] [Ava Kwong, Enders Ng, Edmund Tang, Chris Wong, Fian Law, Candy Leung, Aaron Chan, M. Cheung, M. To, Edmond Ma, Dee West, James Ford] Germline mutations in the two breast cancer susceptibility genes, BRCA1 and BRCA2 account for a significant portion of hereditary breast/ovarian cancer. De novo mutations such as multiple exon deletion are rarely occurred in BRCA1 and BRCA2. During our mutation screening for BRCA1/2 genes to Chinese women with risk factors for hereditary breast/ovarian cancer, we identified a novel germline mutation, consisting of a deletion from exons 1 to 12 in BRCA1 gene, in a patient diagnosed with early onset triple negative breast cancer with no family history of cancer. None of her parents carried the mutation and molecular analysis showed that this novel de novo germline mutation resulted in down-regulation of BRCA1 gene expression. The Author(s), 2011 Breast cancer nationallicence BRCA1 gene nationallicence De novo mutation nationallicence Early onset nationallicence DCIS : Ductal carcinoma in-situ nationallicence TN : Triple negative cancer nationallicence ER : Estrogen receptor nationallicence BIC : Breast cancer information core nationallicence qRT-PCR : Quantitative reverse transcription-polymerase chain reaction nationallicence Kwong Ava Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut Ng Enders Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut Tang Edmund Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut Wong Chris Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut Law Fian Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut Leung Candy Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut Chan Aaron Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut Cheung M. Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut To M. Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut Ma Edmond Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut West Dee Cancer Prevention Institute of California, Fremont, CA, USA aut Ford James Stanford University School of Medicine, Stanford, CA, USA aut Familial Cancer Springer Netherlands 10/2(2011-06-01), 233-237 1389-9600 10:2<233 2011 10 10689 https://doi.org/10.1007/s10689-011-9429-y text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9429-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kwong Ava Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut NATIONALLICENCE 700 1- Ng Enders Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut NATIONALLICENCE 700 1- Tang Edmund Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut NATIONALLICENCE 700 1- Wong Chris Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut NATIONALLICENCE 700 1- Law Fian Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut NATIONALLICENCE 700 1- Leung Candy Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut NATIONALLICENCE 700 1- Chan Aaron Division of Breast Surgery, Queen Mary and Tung Wah Hospital, The University of Hong Kong, Pokfulam, Hong Kong aut NATIONALLICENCE 700 1- Cheung M. Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut NATIONALLICENCE 700 1- To M. Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut NATIONALLICENCE 700 1- Ma Edmond Department of Molecular Pathology and Department of Surgery, Hong Kong Sanatorium and Hospital, Happy Valley, Hong Kong aut NATIONALLICENCE 700 1- West Dee Cancer Prevention Institute of California, Fremont, CA, USA aut NATIONALLICENCE 700 1- Ford James Stanford University School of Medicine, Stanford, CA, USA aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/2(2011-06-01), 233-237 1389-9600 10:2<233 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer