Variant: rs1555913934 

    present in Gene: CHEK2
    present in Chromosome: 22
    Position on Chromosome: 28695868
    Alleles of this Variant: AG/-

rs1555913934 in CHEK2 gene and Nephroblastoma PMID 11967536 2002 Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations.

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

PMID 21244692 2011 Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

PMID 19030985 2009 Synergistic interaction of variants in CHEK2 and BRCA2 on breast cancer risk.

PMID 23329222 2012 CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

PMID 20722467 2010 Evaluation of the contribution of the three breast cancer susceptibility genes CHEK2, STK11, and PALB2 in non-BRCA1/2 French Canadian families with high risk of breast cancer.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 21956126 2012 CHEK2*1100delC and risk of malignant melanoma: Danish and German studies and meta-analysis.

PMID 10617473 1999 Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 15492928 2004 CHEK2 is a multiorgan cancer susceptibility gene.

PMID 21876083 2011 Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

PMID 22058216 2012 A risk of essential thrombocythemia in carriers of constitutional CHEK2 gene mutations.

PMID 18759107 2009 CHEK2 1100delC and male breast cancer in the Netherlands.

PMID 22691310 2012 Breast carcinoma and Lynch syndrome: molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases.

PMID 22058428 2011 CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

PMID 23415889 2013 Excess breast cancer risk in first degree relatives of CHEK2∗1100delC positive familial breast cancer cases.

PMID 24723567 2014 Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer.

PMID 22994785 2012 CHEK2 1100delC variant and breast cancer risk in Caucasians: a meta-analysis based on 25 studies with 29,154 cases and 37,064 controls.

PMID 23409019 2013 Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles.

PMID 22520019 2012 Frequency of the CHEK2 1100delC mutation among women with early-onset and bilateral breast cancer.

PMID 23109706 2012 CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer.