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Annals of Surgical Oncology 9:555-561 (2002)
© 2002 Society of Surgical Oncology

ORIGINAL ARTICLES

hMLH1 and hMSH2 Gene Mutation in Brazilian Families With Suspected Hereditary Nonpolyposis Colorectal Cancer

Benedito Mauro Rossi, MD, PhD, FACS, CSSO, Ademar Lopes, MD, PhD, FACS, FSSO, Fabio Oliveira Ferreira, MD, PhD, Wilson Toshihiko Nakagawa, MD, MS, Cláudia C. Napoli Ferreira, BS, José C. Casali da Rocha, MD, Catarina C. Simpson, BS and Andrew J. G. Simpson, PhD

From the Department of Pelvic Surgery (BMR, AL, FOF, WTN), the Hereditary Colorectal Cancer Registry (CCNF), the Department of Oncogenetics (JCCDR), and the Laboratory of Molecular Biology (CCS), the Hospital do Câncer A. C. Camargo, Fundação Antonio Prudente, São Paulo, Brazil; and the Laboratory of Cancer Genetics (AJGS), the Ludwig Institute for Cancer Research, São Paulo, Brazil.

Correspondence: Address correspondence and reprint requests to: Benedito Mauro Rossi, MD, PhD, Fundação Antonio Prudente, Hospital do Câncer A. C. Camargo, Departamento de Cirurgia Pélvica, Rua Prof. Antonio Prudente, 211, 01509-010, São Paulo, Brazil.

Background: The aim of this study was to search for mutations in the human mutS homolog 2 (hMSH2) and human mutL homolog 1 (hMLH1) genes in 25 unrelated Brazilian kindreds with suspected hereditary nonpolyposis colorectal cancer (HNPCC).

Methods: The families were grouped according to the following clinical criteria: Amsterdam I or II; familial colorectal cancer (CRC); an early age of onset of CRC in the proband only; or with at least one or two relatives who had HNPCC-related cancers; CRC in the proband only. All patients were studied with direct sequencing.

Results: Ten mutations were detected (10 of 25 [40%]); of nine different mutations, seven were novel. The hMLH1 gene had a higher mutation detection rate than hMSH2 (8 of 25 [32%] vs. 2 of 25 [8%]). Only 3 of these 10 families fulfilled the Amsterdam criteria. Two different polymorphisms were detected in the hMLH1 gene and four in the hMSH2 gene.

Conclusions: The hMLH1 gene had a higher mutation detection rate than hMSH2. The physician who deals with CRC must take into consideration the heredity issue with patients who present with an early age of onset or a familial history of CRC- or HNPCC-related cancers, including gastric cancer, even if they do not fulfill the former Amsterdam criteria.

Key Words: HNPCC • Lynch syndrome • Hereditary colorectal cancer • Mutation detection • hMSH2 • hMLH1






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