A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns

Familial Cancer

Volumn 13, Issue 3, 2014, Pages 401-413

  Borelli, Iolanda ^a,b   Casalis Cavalchini, Guido C ^b   Del Peschio, Serena ^a   Micheletti, Monica ^b   Venesio, Tiziana ^c   Sarotto, Ivana ^c   Allavena, Anna ^a   Delsedime, Luisa ^b   Barberis, Marco A ^b   Mandrile, Giorgia ^d,e   Berchialla, Paola ^d   Ogliara, Paola ^a   Bracco, Cecilia ^a,b   Pasini, Barbara ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b CITTÀ DELLA SALUTE E DELLA SCIENZA HOSPITAL   (Italy)

^c CANDIOLO CANCER INSTITUTE   (Italy)

^d UNIVERSITY OF TURIN   (Italy)

^e SAN LUIGI GONZAGA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Focal immunohistochemical expression; Founder effect; Lynch syndrome; MLH1 mutations; MLH1 PMS2 dimerization

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; MLH1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR MARKER;

ADULT; ARTICLE; CANCER DIAGNOSIS; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL FEATURE; COLON CANCER; DIMERIZATION; FEMALE; FOUNDER EFFECT; GENE MUTATION; HAPLOTYPE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; ITALY; MAJOR CLINICAL STUDY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MISMATCH REPAIR; MUTANT; PANCREAS TUMOR; PHENOTYPE; PROTEIN EXPRESSION; AGED; GENETICS; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; VERY ELDERLY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; FEMALE; FOUNDER EFFECT; HAPLOTYPES; HUMANS; IMMUNOHISTOCHEMISTRY; ITALY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PANCREATIC NEOPLASMS; POLYMORPHISM, SINGLE NUCLEOTIDE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RISK FACTORS; TUMOR MARKERS, BIOLOGICAL;

EID: 84907174151     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-014-9726-3     Document Type: Article

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