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Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA‐like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses
- Source :
- Molecular Genetics & Genomic Medicine, Vol 8, Iss 8, Pp n/a-n/a (2020), Molecular Genetics & Genomic Medicine
- Publication Year :
- 2020
- Publisher :
- Wiley, 2020.
-
Abstract
- Background Colorectal cancer (CRC) patients diagnosed with Lynch syndrome (LS) are recommended genetic testing. Increasing numbers of germline variants involved in homologous recombination have been identified in suspected LS patients. This study compared phenotypic the characteristics of suspected LS patients carrying BRCA and BRCA‐like variants with those of LS patients. Methods Forty‐two patients carrying pathogenic variants of DNA mismatch repair (MMR) genes (MMR group), 9 carrying BRCA variants, and 11 carrying BRCA‐like variants (BRCA/BRCA‐like group) who met LS clinical criteria were enrolled in this study. Clinical characteristics, pedigrees, and survival rates were compared and BRCA variants were analyzed. Results The earliest CRC‐onset age and tumor differentiation were higher in the BRCA/BRCA‐like group than in the MMR group. Metachronous CRCs were more numerous in the MMR group, resulting in a higher progression‐free survival rate in the BRCA/BRCA‐like group. Extra‐colorectal cancers were more frequently observed in the BRCA/BRCA‐like group. BRCA2 and BRCA1 variants were clustered in exons 11 and 4/7, respectively. Conclusion BRCA and BRCA‐like variants in CRC patients with LS showed moderate penetrance. BRCA/BRCA‐like variant carriers had a higher risk for extra‐colorectal cancers. Surveillance of susceptible organs other than the intestine should be performed for probands and affected family members.<br />In order to figure out the phenotypic, pedigree and variant characteristics of BRCA and BRCA‐like carriers diagnosed as colorectal cancer (CRC) and Lynch syndrome (LS), we perform a comparison of BRCA and MMR mutation, meanwhile, refer to published literatures. As far as we know, our study is the first report concentrating on BRCA in LS. Furthermore, this is the first report introducing conception of “BRCA‐like” into LS and CRC, which may provide molecular evidence for developing individualized treatment and screening strategies for both CRC proband and affected family members.
- Subjects :
- 0301 basic medicine
Oncology
Proband
Male
medicine.medical_specialty
Heterozygote
animal structures
endocrine system diseases
lcsh:QH426-470
Colorectal cancer
BRCA
Pedigree chart
Penetrance
colorectal cancer
030105 genetics & heredity
DNA Mismatch Repair
03 medical and health sciences
Internal medicine
Genetics
Medicine
Humans
skin and connective tissue diseases
Molecular Biology
Survival rate
Genetics (clinical)
Genetic testing
BRCA2 Protein
medicine.diagnostic_test
business.industry
BRCA1 Protein
Original Articles
Middle Aged
medicine.disease
Colorectal Neoplasms, Hereditary Nonpolyposis
Lynch syndrome
digestive system diseases
female genital diseases and pregnancy complications
Pedigree
mismatch repair
lcsh:Genetics
030104 developmental biology
Mutation
DNA mismatch repair
Original Article
Female
BRCA‐like
business
Subjects
Details
- Language :
- English
- ISSN :
- 23249269
- Volume :
- 8
- Issue :
- 8
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics & Genomic Medicine
- Accession number :
- edsair.doi.dedup.....5572a2e05ae4f2d70ad9ad3378577134