Accession Number : ADA484150


Title :   CHEK2*1100delC Variant and BRCA1/2-Negative Familial Breast Cancer - A Family-Based Genetic Association Study


Descriptive Note : Final addendum, 15 Sep 2006-14 Sep 2007


Corporate Author : COLUMBIA UNIV NEW YORK


Personal Author(s) : Ahsan, Habibul


Full Text : https://apps.dtic.mil/dtic/tr/fulltext/u2/a484150.pdf


Report Date : Oct 2007


Pagination or Media Count : 7


Abstract : We propose to examine the association between the CHEK2*1100delC gene variant and breast cancer among BRCA1/2-negative families. Vital to DNA replication and normal growth of breast cells (like all other cells in the body) is their ability to detect aberrations/damage in the DNA, and subsequently to halt the replication process, correct errors if possible, and either resume normal cell replication or initiate cell death. The CHEK2 gene, the human ortholog of yeast CDS1 and Rad53, encodes a cell-cycle checkpoint kinase that plays a role in DNA repair processes involving BRCA1 and p53 and is thus a candidate gene for familial breast cancer and Li-Fraumeni Syndromes (LFS). The proposed study, by examining CHEK2 in familial breast cancer, will provide additional knowledge to enhance our understanding of the role of CHEK2 gene in breast cancer. By estimating the absolute and relative risk of breast cancer in relation to the CHEK2*1100delC variant, the proposed study will offer direct evidence on assessing genetic risk of familial breast cancer.


Descriptors :   *GENETICS , *EPIDEMIOLOGY , *BREAST CANCER , FAMILIES(HUMAN) , GENES , ETIOLOGY , RISK


Subject Categories : Medicine and Medical Research
      Genetic Engineering and Molecular Biology


Distribution Statement : APPROVED FOR PUBLIC RELEASE