Article (Scientific journals)
Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer
Garre, Pilar; Martin Morales, Lorena; Bando, Inmaculada et al.
2014In Familial Cancer, 13 (1), p. 109-19
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Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Garre, Pilar;  Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory
Martin Morales, Lorena  ;  Université de Liège - ULiège > GIGA Stem Cells - Cancer Signaling
Bando, Inmaculada;  Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory
Tosar, Alicia;  Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory
Llovet, Patricia;  Hospital Clínico San Carlos > Molecular Oncology Laboratory > Medical Oncology
Sanz, Julian;  Hospital Clínico San Carlos > Anatomical Pathology
Romero, Atocha;  Hospital Clínico San Carlos > Molecular Oncology Laboratory > Medical Oncology
de la Hoya, Miguel;  Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory
Diaz-Rubio, Eduardo;  Hospital Clínico San Carlos > Medical Oncology
Caldes, Trinidad;  Hospital Clínico San Carlos > Medical Oncology > Molecular Oncology Laboratory
Language :
English
Title :
Cancer risk and overall survival in mismatch repair proficient hereditary non-polyposis colorectal cancer, Lynch syndrome and sporadic colorectal cancer
Publication date :
March 2014
Journal title :
Familial Cancer
ISSN :
1389-9600
eISSN :
1573-7292
Publisher :
Kluwer Academic Publishers, Netherlands
Volume :
13
Issue :
1
Pages :
109-19
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 25 May 2021

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