The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families

Clinical Genetics

Volumn 84, Issue 3, 2013, Pages 244-250

  Pinheiro, M ^a   Pinto, C ^a   Peixoto, A ^a   Veiga, I ^a   Mesquita, B ^a   Henrique, R ^a,b   Lopes, P ^a   Sousa, O ^a   Fragoso, M ^a   Dias, Lm ^a   Baptista, M ^c   Marinho, C ^d   Mangold, E ^e   Vaccaro, C ^f   Evans, Dg ^g   Farrington, S ^h   Dunlop, Mg ^h   Teixeira, Mr ^a,b  

^a PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL DE SÃO JOÃO   (Portugal)

^d Division of Gynecology Oncology   (Portugal)

^e UNIVERSITY HOSPITAL BONN   (Germany)

^f HOSPITAL ITALIANO DE BUENOS AIRES   (Argentina)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Founder mutation; Lynch syndrome; MSH2; Recurrent mutation

Indexed keywords

PROTEIN MSH2;

ARTICLE; DELETION MUTANT; FAMILIAL DISEASE; FOUNDER EFFECT; GENETIC LINKAGE; GENETIC SCREENING; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; PORTUGAL; PRIORITY JOURNAL;

FOUNDER MUTATION; LYNCH SYNDROME; MSH2; RECURRENT MUTATION;

ARGENTINA; BASE SEQUENCE; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; ENGLAND; FOUNDER EFFECT; GERM-LINE MUTATION; GERMANY; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; MUTS HOMOLOG 2 PROTEIN; NUCLEOTIDE MOTIFS; POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; SEQUENCE DELETION;

EID: 84881610774     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12062     Document Type: Article

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