Publications by authors named "Caroline Kientz"
Article Synopsis
- A significant number of hereditary colorectal cancer (CRC) and colonic polyposis cases are not linked to known risk genes like MMR, APC, and MUTYH.
- New potential predisposition genes have been identified, with rare variants found in genes such as NTLH1, AXIN2, RNF43, BUB1, and TP53 in nine patients suspected of inherited CRC/polyposis.
- Seven of these variants were deemed pathogenic or likely pathogenic, suggesting they may account for up to 2.7% of inherited CRC cases and highlight the importance of genetic testing for better screening and counseling for affected families.
The POLD1 gene is involved in DNA proofreading to ensure accurate DNA replication. Some germline alterations in its exonuclease domain are associated with predisposition to cancers and colonic polyps. Only a few pathogenic variants have been clearly identified so far.
View Article and Find Full Text PDFLynch syndrome accounts for 3-5% of colorectal cancers and is due to a germline mutation in one of the mismatch repair genes MLH1, MSH2, MSH6, and PMS2. Somatic hypermethylation of the MLH1 promoter is commonly associated to sporadic cases. Strategies have been developed to identify patients with Lynch Syndrome based on clinical findings, tumoral phenotype, family history and immunohistochemistry analysis.
View Article and Find Full Text PDFBackground: The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum.
View Article and Find Full Text PDFIntroduction: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumour.
Methods: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumour, to assess the associations of 12 loci with breast cancer tumour characteristics.