In:
International Journal of Cancer, Wiley, Vol. 145, No. 7 ( 2019-10), p. 1782-1797
Abstract:
What's new? The tumor suppressor gene checkpoint kinase 2 ( CHEK2 ) encodes a protein that serves an important role in DNA repair. However, CHEK2 is also vulnerable to mutations that potentially impact breast cancer risk. Using a functional cell‐based assay, the authors of the present study show that truncating and missense CHEK2 variants are associated with risk of both breast and ovarian cancer. One‐third of truncating mutations involved large genomic rearrangements. In addition, CHEK2 mutations predisposed women to specific breast cancer types, and CHEK2 mutation carriers with a family history of cancer were at increased risk of developing second primary cancers.
Type of Medium:
Online Resource
ISSN:
0020-7136
,
1097-0215
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
218257-9
detail.hit.zdb_id:
1474822-8
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