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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

Bonadona, Valérie ; Bonaïti, Bernard ; Olschwang, Sylviane ; Grandjouan, Sophie ; Huiart, Laetitia ; Longy, Michel ; Guimbaud, Rosine ; Buecher, Bruno ; Bignon, Yves-Jean ; Caron, Olivier ; Colas, Chrystelle ; Noguès, Catherine ; Lejeune-Dumoulin, Sophie ; Olivier-Faivre, Laurence ; Polycarpe-Osaer, Florence ; Nguyen, Tan Dat ; Desseigne, Françoise ; Saurin, Jean-Christophe ; Berthet, Pascaline ; Leroux, Dominique ; Duffour, Jacqueline ; Manouvrier, Sylvie ; Frébourg, Thierry ; Sobol, Hagay ; Lasset, Christine ; Bonaïti-Pellié, Catherine ; French Cancer Genetics Network, for the

JAMA : the journal of the American Medical Association, 2011-06, Vol.305 (22), p.2304-2310 [Periódico revisado por pares]

Chicago, IL: American Medical Association

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Título:
Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome
Autor: Bonadona, Valérie ; Bonaïti, Bernard ; Olschwang, Sylviane ; Grandjouan, Sophie ; Huiart, Laetitia ; Longy, Michel ; Guimbaud, Rosine ; Buecher, Bruno ; Bignon, Yves-Jean ; Caron, Olivier ; Colas, Chrystelle ; Noguès, Catherine ; Lejeune-Dumoulin, Sophie ; Olivier-Faivre, Laurence ; Polycarpe-Osaer, Florence ; Nguyen, Tan Dat ; Desseigne, Françoise ; Saurin, Jean-Christophe ; Berthet, Pascaline ; Leroux, Dominique ; Duffour, Jacqueline ; Manouvrier, Sylvie ; Frébourg, Thierry ; Sobol, Hagay ; Lasset, Christine ; Bonaïti-Pellié, Catherine ; French Cancer Genetics Network, for the
Assuntos: Adaptor Proteins, Signal Transducing ; Adaptor Proteins, Signal Transducing - genetics ; Adult ; Age Factors ; Aged ; Aged, 80 and over ; Bacteria ; Biological and medical sciences ; Cancer ; Colorectal cancer ; Colorectal Neoplasms ; Colorectal Neoplasms - epidemiology ; Colorectal Neoplasms - genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis ; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics ; DNA-Binding Proteins ; DNA-Binding Proteins - genetics ; Endometrial Neoplasms ; Endometrial Neoplasms - epidemiology ; Endometrial Neoplasms - genetics ; Female ; France ; France - epidemiology ; Gastroenterology. Liver. Pancreas. Abdomen ; Gene mutations ; General aspects ; Genetic aspects ; Genetic Predisposition to Disease ; Genotype ; Germ-Line Mutation ; Humans ; Incidence ; Life Sciences ; Male ; Medical sciences ; Middle Aged ; Mutation ; MutL Protein Homolog 1 ; MutS Homolog 2 Protein ; MutS Homolog 2 Protein - genetics ; Nuclear Proteins ; Nuclear Proteins - genetics ; Ovarian cancer ; Ovarian Neoplasms ; Ovarian Neoplasms - epidemiology ; Ovarian Neoplasms - genetics ; Risk Assessment ; Risk factors ; Stomach. Duodenum. Small intestine. Colon. Rectum. Anus ; Tumors ; Womens health ; Young Adult
É parte de: JAMA : the journal of the American Medical Association, 2011-06, Vol.305 (22), p.2304-2310
Notas: ObjectType-Article-1
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Descrição: CONTEXT Providing accurate estimates of cancer risks is a major challenge in the clinical management of Lynch syndrome. OBJECTIVE To estimate the age-specific cumulative risks of developing various tumors using a large series of families with mutations of the MLH1, MSH2, and MSH6 genes. DESIGN, SETTING, AND PARTICIPANTS Families with Lynch syndrome enrolled between January 1, 2006, and December 31, 2009, from 40 French cancer genetics clinics participating in the ERISCAM (Estimation des Risques de Cancer chez les porteurs de mutation des gènes MMR) study; 537 families with segregating mutated genes (248 with MLH1; 256 with MSH2; and 33 with MSH6) were analyzed. MAIN OUTCOME MEASURE Age-specific cumulative cancer risks estimated using the genotype restricted likelihood (GRL) method accounting for ascertainment bias. RESULTS Significant differences in estimated cumulative cancer risk were found between the 3 mutated genes (P = .01). The estimated cumulative risks of colorectal cancer by age 70 years were 41% (95% confidence intervals [CI], 25%-70%) for MLH1 mutation carriers, 48% (95% CI, 30%-77%) for MSH2, and 12% (95% CI, 8%-22%) for MSH6. For endometrial cancer, corresponding risks were 54% (95% CI, 20%-80%), 21% (95% CI, 8%-77%), and 16% (95% CI, 8%-32%). For ovarian cancer, they were 20% (95% CI, 1%-65%), 24% (95% CI, 3%-52%), and 1% (95% CI, 0%-3%). The estimated cumulative risks by age 40 years did not exceed 2% (95% CI, 0%-7%) for endometrial cancer nor 1% (95% CI, 0%-3%) for ovarian cancer, irrespective of the gene. The estimated lifetime risks for other tumor types did not exceed 3% with any of the gene mutations. CONCLUSIONS MSH6 mutations are associated with markedly lower cancer risks than MLH1 or MSH2 mutations. Lifetime ovarian and endometrial cancer risks associated with MLH1 or MSH2 mutations were high but do not increase appreciably until after the age of 40 years.
Editor: Chicago, IL: American Medical Association
Idioma: Inglês

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Cancer Risks Associated With Germline Mutations in MLH1, MSH2, and MSH6 Genes in Lynch Syndrome

Chicago, IL: American Medical Association

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