Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC☆

Hans F. A. Vasen, Peter H. Watson, Jukka‐Pekka Mecklin et al. · Gastroenterology · 1999 · 2.5K citations

Lynch Syndrome, Oncology, Cancer Pathology +13

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

Anne Rovelet‐Lecrux, Didier Hannequin, Grégory Raux et al. · Nature Genetics · 2005 · 1.2K citations

Alzheimer's Disease, Cerebral Amyloid Angiopathy, Dementia +9

Founding mutations and Alu-mediated recombination in hereditary colon cancer

Minna Nyström, Paula Kristo, Nicholas C. Nicolaides et al. · Nature Medicine · 1995 · 301 citations

Genetics, Colorectal Cancer, Hereditary Colon Cancer +4

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

David J. Bunyan, Diana Eccles, Julie Sillibourne et al. · British Journal of Cancer · 2004 · 263 citations · Full text

Molecular Analysis of Hereditary Nonpolyposis Colorectal Cancer in the United States: High Mutation Detection Rate among Clinically Selected Families and Characterization of an American Founder Genomic Deletion of the MSH2 Gene

Anja Wagner, Alicia Barrows, Juul Wijnen et al. · The American Journal of Human Genetics · 2003 · 207 citations · Full text

Oncology, Somatic Variant, Medicine +11