BRCA1 R1699Q variant displaying ambiguous Functional abrogation confers intermediate breast And ovarian cancer risk

Journal of Medical Genetics

Volumn 49, Issue 8, 2012, Pages 525-532

  Spurdle, Amanda B ^a,b   Whiley, Phillip J ^a   Thompson, Bryony ^a,b   Feng, Bingjian ^c   Healey, Sue ^a   Brown, Melissa A ^b   Pettigrew, Christopher ^b   Van Asperen, Christi J ^d   Ausems, Margreet G E M ^e   Kattentidt Mouravieva, Anna A ^f   van den Ouweland, Ans M W ^f   Lindblom, Annika ^g   Pigg, Maritta H ^h   Schmutzler, Rita K ⁱ   Engel, Christoph ^j   Meindl, Alfons ^k   Caputo, Sandrine ^l   Sinilnikova, Olga M ^m,n   Lidereau, Rosette ^l   Couch, Fergus J ^o   Guidugli, Lucia ^o   van Overeem Hansen, Thomas ^p   Thomassen, Mads ^q   Eccles, Diana M ^r   Tucker, Kathy ^s   Benitez, Javier ^t   Domchek, Susan M ^u   Toland, Amanda E ^v   Elizabeth J Van Rensburg, ^w   Wappenschmidt, Barbara ⁱ   Borg, Åke ^x   Vreeswijk, Maaike P G ^d   Goldgar, David E ^c,y   Hogervorst, Frans B ^z   Oldenburg, Rogier A ^f   Wijnen, Juul T ^d   Devilee, Peter ^d   van der Luijt, Rob B ^e   Gille, Johan J P ^aa   Adank, Muriel A ^aa   Gomez Garcia, Encarna B ^ab   Blok, Marinus J ^aa   Oosterwijk, Jan C ^ac   van der Hout, A H ^ac   Michils, Genevieve ^ad   Legius, Eric ^ad   Teugels, Erik ^ae   Jacques de Greve ^ae   Arnold, Norbert ^af   Deisler, Helmut ^ag   Gadzicki, Dorothea ^ah   Gehrig, Andrea ^ai   Heinritz, Wolfram ^j   Kast, Karin ^aj   Niederacher, Dieter ^ak   Preisler Adams, Sabine ^al   Sutter, Christian ^am   Varon Mateeva, Raymonda ^an   Weber, Bernhard H ^ao   Sévenet, Nicolas ^ap   Bonnet, Françoise ^ap   Longy, Michel ^ap   Hardouin, Agnès ^aq   Vaur, Dominique ^aq   Krieger, Sophie ^aq   Uhrhammer, Nancy ^ar   Bignon, Yves Jean ^ar   Peyrat, Jean Philippe ^as   Revillion, Françoise ^as   Fournier, Joëlle ^as   Mazoyer, Sylvie ^at   Léone, Mélanie ^m   Sobol, Hagay ^au   Noguchi, Tetsuro ^au   Bourdon, Violaine ^au   Remenieras, Audrey ^au   Rey, Jean Marc ^av   Bronner, Myriam ^aw   Sokolowska Gillois, Joanna ^aw   Jonveaux, Philippe ^aw   Delnatte, Capucine ^ax   Coulet, Florence ^ay   Castera, Laurent ^az   Caux Moncoutier, Virginie ^az   Houdayer, Claude ^az   Dominique Stoppa Lyonnet, ^az   Delvincourt, Chantal ^ba   Gorisse, Marie Claude ^ba   Bièche, Ivan ^az   Lefol, Cédrick ^az   Rouleau, Etienne ^az   Abecassis, Joseph ^bb   Muller, Danièle ^bb   Toulas, Christine ^bc   Guillaud Bataille, Marine ^bd   Bressac de Paillerets, Brigitte ^bd   Barber, Richard ^be   Bedenham, Tina ^bf   Burgess, Lucy ^bg   Campbell, Joanna ^bh   Cook, Jackie ^bi   Devereau, Andrew ^bj   Ejlertsen, Bent ^p   Fields, Mike ^bk   Gerdes, Anne Marie ^bl   Johnston, Elizabeth ^be   Kruse, Torben A ^q   Luharia, Anita ^be   Mckeown, Carole ^bg   Nathanson, Kate ^bm   Nielsen, Finn C ^p   Senter, Leigha ^v   Stayner, Barbara ^bn   Sweet, Kevin ^bh   Thomas, Simon ^bo   Wallis, Yvonne ^be   Watts, Sally ^bh   more..

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF QUEENSLAND   (Australia)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g KAROLINSKA INSTITUTE   (Sweden)

^h UPPSALA UNIVERSITY   (Sweden)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

^j UNIVERSITY OF LEIPZIG   (Germany)

^k TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^l INSERM   (France)

^m HOSPICES CIVILS DE LYON   (France)

ⁿ UNIVERSITÉ LYON 1   (France)

^o MAYO CLINIC   (United States)

^p Rigshospitalet   (Denmark)

^q ODENSE UNIVERSITY HOSPITAL   (Denmark)

^r UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^s PRINCE OF WALES HOSPITAL   (Australia)

^t Centro Nacional de Investigaciones Oncológicas   (Spain)

^u UNIVERSITY OF PENNSYLVANIA   (United States)

^v OHIO STATE UNIVERSITY   (United States)

^w UNIVERSITY OF PRETORIA   (South Africa)

^x LUND UNIVERSITY   (Sweden)

^y UNIVERSITY OF UTAH   (United States)

^z NETHERLANDS CANCER INSTITUTE   (Netherlands)

^aa VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^ab MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^ac UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^ad UNIVERSITY OF LEUVEN   (Belgium)

^ae UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^af UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^ag UNIVERSITY OF ULM   (Germany)

^ah HANNOVER MEDICAL SCHOOL   (Germany)

^ai UNIVERSITY OF WÜRZBURG   (Germany)

^aj DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^ak UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^al UNIVERSITY OF MÜNSTER   (Germany)

^am UNIVERSITY OF HEIDELBERG   (Germany)

^an CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^ao UNIVERSITY OF REGENSBURG   (Germany)

^ap INSTITUT BERGONIÉ   (France)

^aq CENTRE FRANÇOIS BACLESSE   (France)

^ar CENTRE JEAN PERRIN   (France)

^as CENTRE OSCAR LAMBRET   (France)

^at CENTRE DE RECHERCHE EN CANCÉROLOGIE DE LYON   (France)

^au INSTITUT PAOLI CALMETTES   (France)

^av HÔPITAL ARNAUD DE VILLENEUVE   (France)

^aw UNIVERSITY HOSPITAL OF NANCY   (France)

^ax INSTITUT DE BIOLOGIE   (France)

^ay PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^az INSTITUT CURIE   (France)

^ba INSTITUT JEAN GODINOT   (France)

^bb CENTRE PAUL STRAUSS   (France)

^bc INSTITUT CLAUDIUS REGAUD   (France)

^bd INSTITUT GUSTAVE ROUSSY   (France)

^be BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^bf CHURCHILL HOSPITAL   (United Kingdom)

^bg West Midlands Regional Clinical Genetics Service   (United Kingdom)

^bh GUY S HOSPITAL   (United Kingdom)

^bi SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^bj ST MARY S HOSPITAL   (United Kingdom)

^bk ROYAL NORTH SHORE HOSPITAL   (Australia)

^bl UNIVERSITY OF COPENHAGEN   (Denmark)

^bm UNIVERSITY OF PENNSYLVANIA   (United States)

^bn Oxford Regional Genetics Service   (United Kingdom)

^bo WESSEX REGIONAL GENETICS LABORATORY   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER RISK; CANCER SUSCEPTIBILITY; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; ONCOGENE; OVARY CANCER; PRIORITY JOURNAL;

AGED; BRCA1 PROTEIN; BREAST NEOPLASMS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPING TECHNIQUES; HEK293 CELLS; HUMANS; LIKELIHOOD FUNCTIONS; MUTATION; OVARIAN NEOPLASMS; PEDIGREE; PENETRANCE; PREDICTIVE VALUE OF TESTS; RISK FACTORS; TRANSCRIPTIONAL ACTIVATION;

EID: 84866329098     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-101037     Document Type: Article

References (36)

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