Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer | Zendy

Kara N. Maxwell | Zendy; Bradley Wubbenhorst | Zendy; Kurt D’Andrea | Zendy; Bradley Garman | Zendy; Jessica M. Long | Zendy; Jacquelyn Powers | Zendy; Katherine Rathbun | Zendy; Jill E. Stopfer | Zendy; Jiajun Zhu | Zendy; Angela R. Bradbury | Zendy; Michael S. Simon | Zendy; Angela DeMichele | Zendy; Susan M. Domchek | Zendy; Katherine L. Nathanson | Zendy

Open Access

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

Author(s) -

Kara N. Maxwell,

Bradley Wubbenhorst,

Kurt D’Andrea,

Bradley Garman,

Jessica M. Long,

Jacquelyn Powers,

Katherine Rathbun,

Jill E. Stopfer,

Jiajun Zhu,

Angela R. Bradbury,

Michael S. Simon,

Angela DeMichele,

Susan M. Domchek,

Katherine L. Nathanson

Publication year - 2014

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.176

Subject(s) - chek2 , mutyh , massive parallel sequencing , cdkn2a , breast cancer , cancer , medicine , genetics , msh2 , genetic testing , palb2 , mutation , biology , gene , oncology , germline mutation , dna sequencing , colorectal cancer , dna mismatch repair

Clinical testing for germ-line variation in multiple cancer susceptibility genes is available using massively parallel sequencing. Limited information is available for pretest genetic counseling regarding the spectrum of mutations and variants of uncertain significance in defined patient populations.

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