Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) in Argentina: report from a referral hospital register.
OBJECTIVE
The first Argentine experience with epidemiologic, molecular, and genetic counseling data is reported.


METHODS
We analyzed 43 families fulfilling Amsterdam criteria identified from a prospective database with data from 779 relatives.


RESULTS
Eleven families (25.6 percent) presented as Lynch I, 29 (67.4 percent) as Lynch II, and 3 (7 percent) as Muir-Torre syndrome. Among the 306 affected members, 197 cases of colorectal cancer were identified (mean age at diagnosis, 52.1 (range, 21-90) years). The most frequent extracolonic tumors were gastric adenocarcinoma in males and endometrium adenocarcinoma in females. A high incidence of breast cancer was observed (16 cases among 155 females, crude rate: 11,594.20/100,000). Twenty-seven patients (8.8 percent) developed more than one tumor. These patients were younger than those with only one tumor (45 vs. 51 years; P = 0.001). In 5 of 11 patients who underwent molecular sequencing, a pathologic mutation was found. A novel C deletion at 1910 nucleotide, codon 637, exon 12 of MSH2 gene was identified in a family with a strong aggregation of breast cancer with lack of MSH2 immunohistochemical staining. For 78.2 percent of counseled individuals, this session represented the first time they received information, and 73.9 percent stated that their physicians were unaware of their family background.


CONCLUSIONS
Argentine families presented a high incidence of stomach cancer. The elevated incidence of breast cancer and its association with a novel hMSH2 mutation bring to consideration the inclusion of this malignancy as part of the syndrome. A lack of awareness by both physicians and persons at risk was observed.
Vaccaro
Carlos A
CA
Department of Colorectal Surgery, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina. carlos.vaccaro@hospitalitaliano.org.ar
Bonadeo
Fernando
F
Roverano
Analía V
AV
Peltomaki
Paivi
P
Bala
Shashi
S
Renkonen
Elise
E
Redal
Maria A
MA
Mocetti
Esteban
E
Mullen
Eduardo
E
Ojea-Quintana
Guillermo
G
Benati
Mario L
ML
Rivello
Hernan Garcia
HG
Clark
Mary B
MB
Lynch
Jane F
JF
Lynch
Henry T
HT
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001118:Argentina / Q000453:epidemiology; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D012017:Referral and Consultation; D012042:Registries
D048868:Adaptor Proteins, Signal Transducing; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein