An intronic mutation in MLH1 associated with familial colon and breast cancer

Familial Cancer

Volumn 10, Issue 1, 2011, Pages 27-35

  Bianchi, F ^a   Raponi, M ^b   Piva, F ^a   Viel, A ^c   Bearzi, I ^a   Galizia, E ^d   Bracci, R ^a   Belvederesi, L ^a   Loretelli, C ^a   Brugiati, C ^a   Corradini, F ^a   Baralle, D ^b   Cellerino, R ^a  

^a UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c Dipartimento di Oncologia Molecolare e Ricerca Traslazionale   (Italy)

^d Ospedale E Profili   (Italy)

Author keywords

Breast cancer; Colon cancer; Intronic mutation; Minigene assay; MLH1

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

ADULT; ALLELE; ARTICLE; BREAST CANCER; CASE REPORT; COLORECTAL CANCER; EXON SKIPPING; FAMILY HISTORY; GENE MUTATION; GENETIC VARIABILITY; GERM LINE; HEREDITARY NONPOLYPOSIS COLORECTAL CANCER; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTRON; MALE; MICROSATELLITE INSTABILITY; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SEQUENCE ANALYSIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA, MUCINOUS; ADULT; AGED; BREAST NEOPLASMS; COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA, NEOPLASM; FEMALE; GENOTYPE; HUMANS; IMMUNOENZYME TECHNIQUES; INTRONS; LOSS OF HETEROZYGOSITY; MALE; MICROSATELLITE INSTABILITY; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROGNOSIS; YOUNG ADULT;

EID: 79951857010     PISSN: 13899600     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10689-010-9371-4     Document Type: Article

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