A missense variant within BRCA1 exon 23 causing exon skipping

Cancer Genetics and Cytogenetics

Volumn 202, Issue 2, 2010, Pages 144-146

  Rouleau, Etienne ^a   Lefol, Cédrick ^a   Moncoutier, Virginie ^a   Castera, Laurent ^a   Houdayer, Claude ^b   Caputo, Sandrine ^a   Bièche, Ivan ^a   Buisson, Monique ^c   Mazoyer, Sylvie ^c   Stoppa Lyonnet, Dominique ^a   Noguès, Catherine ^a   Lidereau, Rosette ^a  

^a INSTITUT CURIE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITÉ LYON 1   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; BRCA1 PROTEIN; GLYCINE; MESSENGER RNA;

ADULT; ALGORITHM; AMINO ACID SUBSTITUTION; ANAMNESIS; CASE REPORT; COMPUTER MODEL; EXON; EXON SKIPPING; FAMILY HISTORY; FEMALE; HUMAN; INTRON; LETTER; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN VARIANT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; DNA DENATURATION; GENETICS; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE;

ADULT; BASE SEQUENCE; BRCA1 PROTEIN; EXONS; FEMALE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NUCLEIC ACID DENATURATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 77957084466     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2010.07.122     Document Type: Letter

References (8)

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8. Gaildrat P., Krieger S., Thery J.C., Killian A., Rousselin A., Berthet P., et al. The BRCA1 c.5434C>G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. J Med Genet 2010, 47:398-403.