Publications:

Comprehensive mutation detection of BRCA1/2 genes reveals large genomic rearrangements contribute to hereditary breast and ovarian cancer in Chinese women.

Bmc Cancer

Cao, Wen-Ming WM; Zheng, Ya-Bing YB; Gao, Yun Y; Ding, Xiao-Wen XW; Sun, Yan Y; Huang, Yuan Y; Lou, Cai-Jin CJ; Pan, Zhi-Wen ZW; Peng, Guang G; Wang, Xiao-Jia XJ

Publication Date: 2019-06-07

Variant appearance in text: BRCA2: 784delG; Ala262Glnfs

PubMed Link: 31174498

Variant Present in the following documents:

• Main text
• 12885_2019_Article_5765.pdf

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Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

American Journal Of Human Genetics

Whitworth, James J; Smith, Philip S PS; Martin, Jose-Ezequiel JE; West, Hannah H; Luchetti, Andrea A; Rodger, Faye F; Clark, Graeme G; Carss, Keren K; Stephens, Jonathan J; Stirrups, Kathleen K; Penkett, Chris C; Mapeta, Rutendo R; Ashford, Sofie S; Megy, Karyn K; Shakeel, Hassan H; Ahmed, Munaza M; Adlard, Julian J; Barwell, Julian J; Brewer, Carole C; Casey, Ruth T RT; Armstrong, Ruth R; Cole, Trevor T; Evans, Dafydd Gareth DG; Fostira, Florentia F; Greenhalgh, Lynn L; Hanson, Helen H; Henderson, Alex A; Hoffman, Jonathan J; Izatt, Louise L; Kumar, Ajith A; Kwong, Ava A; Lalloo, Fiona F; Ong, Kai Ren KR; Paterson, Joan J; Park, Soo-Mi SM; Chen-Shtoyerman, Rakefet R; Searle, Claire C; Side, Lucy L; Skytte, Anne-Bine AB; Snape, Katie K; Woodward, Emma R ER; , ; Tischkowitz, Marc D MD; Maher, Eamonn R ER

Publication Date: 2018-07-05

Variant appearance in text: BRCA2: 784delG

PubMed Link: 29909963

Variant Present in the following documents:

• Main text
• main.pdf
• mmc7.pdf
• mmc6.xlsx, sheet 1

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