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Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer
- Source :
- Familial Cancer. 13:109-119
- Publication Year :
- 2013
- Publisher :
- Springer Science and Business Media LLC, 2013.
-
Abstract
- Mismatch repair proficient hereditary non-polyposis colorectal cancer (MSS-HNPCC) encloses a heterogeneous group of families consisting of different unknown genetic syndromes and/or aggregations cases. The lack of information about the hereditability of cancer risk in these families makes it difficult to carry out an individualized Genetic Counseling. Therefore, deep description of such families becomes important for a better classification and search for underlying susceptibility causes. The aim of this study is to describe and compare the clinical, morphological features, tumor KRAS status and overall survival in MSS-HNPCC, Lynch and sporadic colorectal cancer. A total of 37 MSS-HNPCC families, 50 Lynch families and 612 sporadic CRC were included. Clinical and morphological data were evaluated by reviewing medical and pathology reports of 55, 69 and 102 tumors respectively. KRAS/BRAF status were detected by allele specific real-time PCR. Standardized incidence ratios (SIR) were calculated among 602 MSS-HNPCC relatives and 668 Lynch relatives. Main features distinguishing MSS-HNPCC were diagnosis age (55.1 ± 12.6), preferential distal location (76%), polyp detection (45%) and familial colorectal cancer incidence (SIR = 6.6). In addition, we found increased incidences rates for kidney, stomach and uterus tumors. KRAS mutation rates were similar in the study populations (48.8 ± 5.8) but higher than those described before by Sanger sequencing. MSS-HNPCC overall survival was similar to Lynch in B Dukes' stage tumors and between Lynch and sporadic in C stage tumors. Anatomical and morphological data of MSS-HNPCC are consistent with other described populations. Our studies disclose an increased HNPCC-extracolonic tumors incidence and improved overall survival in MSS-HNPCC families.
- Subjects :
- Male
Proto-Oncogene Proteins B-raf
Oncology
congenital, hereditary, and neonatal diseases and abnormalities
Cancer Research
medicine.medical_specialty
Colorectal cancer
Genetic counseling
medicine.disease_cause
DNA Mismatch Repair
Proto-Oncogene Proteins p21(ras)
Proto-Oncogene Proteins
Internal medicine
Epidemiology
Genetics
medicine
Humans
Family
neoplasms
Genetics (clinical)
Adaptor Proteins, Signal Transducing
Aged
business.industry
Incidence (epidemiology)
Nuclear Proteins
nutritional and metabolic diseases
Microsatellite instability
Syndrome
Middle Aged
medicine.disease
Colorectal Neoplasms, Hereditary Nonpolyposis
digestive system diseases
Lynch syndrome
DNA-Binding Proteins
MutS Homolog 2 Protein
Mutation
ras Proteins
Female
Microsatellite Instability
DNA mismatch repair
KRAS
Colorectal Neoplasms
MutL Protein Homolog 1
business
Subjects
Details
- ISSN :
- 15737292 and 13899600
- Volume :
- 13
- Database :
- OpenAIRE
- Journal :
- Familial Cancer
- Accession number :
- edsair.doi.dedup.....c407c9a807eec34e1d0b9dca965c339a