Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

Human Molecular Genetics

Volumn 25, Issue 11, 2016, Pages 2256-2268

  de la Hoya, Miguel ^a   Soukarieh, Omar ^b   López Perolio, Irene ^a   Vega, Ana ^c   Walker, Logan C ^d   van Ierland, Yvette ^e   Baralle, Diana ^f   Santamariña, Marta ^c   Lattimore, Vanessa ^d   Wijnen, Juul ^e   Whiley, Philip ^g   Blanco, Ana ^c   Raponi, Michela ^f   Hauke, Jan ^h   Wappenschmidt, Barbara ^h   Becker, Alexandra ^h   Hansen, Thomas V O ⁱ   Behar, Raquel ^a   KConFaB Investigators, ^j   Niederacher, Diether ^k   Arnold, Norbert ^l   Dworniczak, Bernd ^m   Steinemann, Doris ⁿ   Faust, Ulrike ^o   Rubinstein, Wendy ^p   Hulick, Peter J ^q   Houdayer, Claude ^r   Caputo, Sandrine M ^s   Castera, Laurent ^t   Pesaran, Tina ^u   Chao, Elizabeth ^u   Brewer, Carole ^v   Southey, Melissa C ^j   van Asperen, Christi J ^e   Singer, Christian F ^w   Sullivan, Jan ^x   Poplawski, Nicola ^y,z   Mai, Phuong ^aa   Peto, Julian ^ab   Johnson, Nichola ^ac   Burwinkel, Barbara ^ad,ae   Surowy, Harald ^ad,ae   Bojesen, Stig E ^af,ag   Flyger, Henrik ^af   Lindblom, Annika ^ah   Margolin, Sara ^ah   Chang Claude, Jenny ^ae,ai   Rudolph, Anja ^ae   Radice, Paolo ^aj   Galastri, Laura ^ak   Olson, Janet E ^al   Hallberg, Emily ^al   Giles, Graham G ^am,an   Milne, Roger L ^am,an   Andrulis, Irene L ^ao,ap   Glendon, Gord ^ao   Hall, Per ^ah   Czene, Kamila ^ah   Blows, Fiona ^aq   Shah, Mitul ^aq   Wang, Qin ^aq   Dennis, Joe ^aq   Michailidou, Kyriaki ^aq,ar   McGuffog, Lesley ^aq   Bolla, Manjeet K ^aq   Antoniou, Antonis C ^aq   Easton, Douglas F ^aq   Couch, Fergus J ^al   Tavtigian, Sean ^as   Vreeswijk, Maaike P ^e   Parsons, Michael ^g   Meeks, Huong D ^as   Martins, Alexandra ^b   Goldgar, David E ^as   Spurdle, Amanda B ^g   more..

^a HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^b UNIVERSITY OF ROUEN   (France)

^c UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^d UNIVERSITY OF OTAGO   (New Zealand)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^g QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^h UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

ⁱ Rigshospitalet   (Denmark)

^j UNIVERSITY OF MELBOURNE   (Australia)

^k UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^l UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^m UNIVERSITY OF MÜNSTER   (Germany)

ⁿ HANNOVER MEDICAL SCHOOL   (Germany)

^o UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^p NATIONAL INSTITUTES OF HEALTH   (United States)

^q NORTHSHORE UNIVERSITY HEALTHSYSTEM   (United States)

^r INSTITUT CURIE   (France)

^s INSTITUT CURIE   (France)

^t CENTRE FRANÇOIS BACLESSE   (France)

^u AMBRY GENETICS   (United States)

^v ROYAL DEVON AND EXETER HOSPITAL   (United Kingdom)

^w UNIV KLIN FÜR FRAUENHEILKUNDE   (Austria)

^x CHRISTCHURCH HOSPITAL   (New Zealand)

^y WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^z UNIVERSITY OF ADELAIDE   (Australia)

^aa NATIONAL CANCER INSTITUTE   (United States)

^ab LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^ac INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^ad UNIVERSITY OF HEIDELBERG   (Germany)

^ae GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^af GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^ag UNIVERSITY OF COPENHAGEN   (Denmark)

^ah KAROLINSKA INSTITUTE   (Sweden)

^ai UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^aj NATIONAL CANCER INSTITUTE   (Italy)

^ak Associazione Italiana Volontari Sangue (AVIS)   (Italy)

^al MAYO CLINIC   (United States)

^am UNIVERSITY OF MELBOURNE   (Australia)

^an CANCER EPIDEMIOLOGY CENTRE   (Australia)

^ao MOUNT SINAI HOSPITAL   (Canada)

^ap UNIVERSITY OF TORONTO   (Canada)

^aq UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^ar CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^as UNIVERSITY OF UTAH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; BRCA1 PROTEIN; RNA SPLICE SITE; TUMOR SUPPRESSOR PROTEIN;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; BREAST CANCER; CANCER RISK; CAPILLARY ELECTROPHORESIS; CASE CONTROL STUDY; CLASSIFICATION ALGORITHM; CONTROLLED STUDY; EXON SKIPPING; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC RISK; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HUMAN; PATHOGENICITY; PRIORITY JOURNAL; RISK ASSESSMENT; RNA ANALYSIS; RNA SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; TUMOR SUPPRESSOR GENE; ADULT; AGED; BREAST TUMOR; DNA MUTATIONAL ANALYSIS; EXON; FEMALE; GENE EXPRESSION REGULATION; GENETICS; MIDDLE AGED; MUTATION; OVARY TUMOR; PATHOLOGY; RNA SPLICE SITE; RNA SPLICING;

ADULT; AGED; ALTERNATIVE SPLICING; BRCA1 PROTEIN; BREAST NEOPLASMS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MIDDLE AGED; MUTATION; OVARIAN NEOPLASMS; RNA SPLICE SITES; RNA SPLICING; TUMOR SUPPRESSOR PROTEINS;

EID: 84998631505     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw094     Document Type: Article

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