نتایج جستجو برای: palb2
تعداد نتایج: 380 فیلتر نتایج به سال:
BACKGROUND Multigene panels can be a cost- and time-effective alternative to sequentially testing multiple genes, especially with a mixed family cancer phenotype. However, moving beyond our single-gene testing paradigm has unveiled many new challenges to the clinician. The purpose of this article is to familiarize the reader with some of the challenges, as well as potential opportunities, of ex...
Multiple primary malignant neoplasms are rare entities in the clinical setting, but represent an important issue in the clinical management of patients since they could be expression of a genetic predisposition to malignancy. A high resolution genome wide array CGH led us to identify the first case of a de novo constitutional deletion confined to the FBXW7 gene, a well known tumor suppressor, i...
Several female malignancies including breast, ovarian, and endometrial cancers can be characterized based on known somatic and germline mutations. Initiation and propagation of tumors reflect underlying genomic alterations such as mutations, polymorphisms, and copy number variations found in genes of multiple cellular pathways. The contributions of any single genetic variation or mutation in a ...
Women with pathogenic/likely pathogenic (P/LP) variants in inherited breast cancer genes are more likely to develop their lifetime. NCCN guidelines recommend a discussion about contralateral risk reduction mastectomy (RRM) for BRCA1/2 and PALB2 carriers, however there is insufficient evidence uniformly RRM among women solely based on P/LP variant CHEK2 or ATM. Using the Inherited Cancer Registr...
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