+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes

Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes

Clinical Genetics 70(5): 388-395

We assessed the association between breast cancer (BC) and colorectal cancer (CRC) from referral pattern to the Regional Genetics Service including molecular analysis. Hospital computer records and/or department referral books were used to identify cases referred to the Regional Genetic Service during a 16-year period (1990-2005 inclusive). All files were reviewed along with associated demographic data, risk assessments, referral details and results from mutation testing. Families were assessed for hereditary breast and colorectal cancer (HBCC) criteria, and all families with eligible individuals were tested for the 1100delC mutation in CHEK2. A total of 8,612 families were identified. One hundred and sixteen of 1,631 (7.5%) families with a primary referral for CRC fulfilled the criteria for HBCC, whereas only 68/6981 (1%) BC referrals fulfilled these criteria. Blood samples were obtained from 113 individuals from 83/184 families. Only 1/113 (1%) has screened positive for the CHEK2 mutation, whereas 14 (17%) families segregate BRCA1/2 mutations and at least 7 (8.5%) carry MLH1/MSH2 mutations. HBCC syndrome, if it exists as a separate entity, is not likely to be due to CHEK2 mutations. Many families are explicable by existing high-penetrance genes, and further work is necessary to elucidate whether the remainder is due to chance or as yet undiscovered genes.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 012867290

Download citation: RISBibTeXText

PMID: 17026620

DOI: 10.1111/j.1399-0004.2006.00698.x

Related references

Inherited susceptibility to breast cancer in women High-penetrance and low-penetrance genes. Ehrlich, Melanie DNA alterations in cancer: Genetic and epigenetic changes 253-270, 2000

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?. Breast Cancer Research 10(3): 208, 2008

Interaction between CHEK2*1100delC and other low-penetrance breast-cancer susceptibility genes: a familial study. Lancet 366(9496): 1554-1557, 2005

The breast cancer low-penetrance allele 1100delC in the CHEK2 gene is not present in Spanish familial breast cancer population. International Journal of Cancer 108(1): 54-56, 2004

Breast cancer low-penetrance allele 1100delC in the CHEK2 gene: not present in the Chinese familial breast cancer population. Advances in Therapy 25(5): 496-501, 2008

Association of genetic variants in ATR-CHEK1 and ATM-CHEK2 pathway genes with risk of colorectal cancer in a Chinese population. Oncotarget 9(42): 26616-26624, 2018

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. Genetic Testing and Molecular Biomarkers 14(4): 515-526, 2010

Low-penetrance susceptibility to breast cancer due to CHEK2*1100delC in noncarriers of BRCA1 or BRCA2 mutations. Nature Genetics 31(1): 55-59, 2002

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs. Breast Cancer Research 20(1): 3, 2018

The CHEK2 gene and inherited breast cancer susceptibility. Oncogene 25(43): 5912-5919, 2006

Chek2 DNA damage response pathway and inherited breast cancer risk. Journal of Clinical Oncology 29(28): 3813-3815, 2011

Limited relevance of the CHEK2 gene in hereditary breast cancer. International Journal of Cancer 110(3): 320-325, 2004

Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. Carcinogenesis 38(5): 511-518, 2017

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. Human Molecular Genetics 20(16): 3289-3303, 2011

Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer. Disease Markers 15(1-3): 207-211, 1999