The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations

American Journal of Human Genetics

Volumn 67, Issue 1, 2000, Pages 207-212

  Mazoyer, S ^a,b   Leary, J ^c   Kirk, J ^c   Fleischmann, E ^d   Wagner, T ^d   Claes, K ^e   Messiaen, L ^e   Foulkes, W ^f   Desrochers, M ^g   Simard, J ^g   Phelan, C M ^h   Kwan, E ^h   Narod, S A ^h   Vahteristo, P ⁱ   Nevanlinna, H ⁱ   Durando, X ^j   Bignon, Y J ^j   Peyrat, J P ^k   Bonnardel, C ^b   Sinilnikova, O M ^b   Puget, N ^b   Lenoir, G M ^b   Audoynaud, C ^l   Goldgar, D ^l   Maugard, C ^m   Caux, V ⁿ   Gad, S ⁿ   Stoppa Lyonnet, D ⁿ   Nogues C ^o   Lidereau, R ^o   Machavoine, C ^p   Bressac De Paillerets, B ^p   Kuschel, B ^q   Betz, B ^q   Niederacher, D ^q   Beckmann, M W ^q   Hamann, U ^r   Gayther, S A ^s   Ponder, B A P ^s   Robinson, M ^t   Taylor, G R ^t   Bishop, T ^t   Catteau, A ^u   Solomon, E ^u   Cohen, B ^v   Steel, M ^v   Collins, N ^w   Stratton, M ^w   Van Der Looij, M ^x   Olah E ^x   Miller, N J ^y   Barton, D E ^y   Sverdlov, R S ^z   Friedman, E ^z   Radice, P ^aa   Montagna, M ^ab   Sensi, E ^ac   Caligo, M ^ac   Van Eijk, R ^ad   Devilee, P ^ad   Van Der Luijt, R ^ae   Heimdal, K ^af   Moller P ^af   Borg, A ^ag   Diez, O ^ah   Cortes, J ^ah   Domenech, M ^ah   Baiget, M ^ah   Osorio, A ^ai   Benitez J ^ai   Maillet, P ^aj   Sappino, A P ^aj   Ozdag H ^ak   Ozcelik T ^ak   Ozturk, M ^ak   Rohlfs, E M ^al   Boyd, J ^am   McDermott, D ^am   Offit, K ^am   Unger, M ^an   Nathanson, K ^an   Weber, B L ^an   Sellers, T A ^ao   Hampton, E ^ao   Couch, F J ^ao   Neuhausen, S ^ap   more..

^a CNRS   (France)

^b UNIVERSITÉ LYON 1   (France)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF VIENNA   (Austria)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f MCGILL UNIVERSITY   (Canada)

^g LAVAL UNIVERSITY   (Canada)

^h WOMEN S COLLEGE HOSPITAL   (Canada)

ⁱ HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^j CENTRE JEAN PERRIN   (France)

^k CENTRE OSCAR LAMBRET   (France)

^l INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^m CENTRE RENÉ GAUDUCHEAU   (France)

ⁿ INSTITUT CURIE   (France)

^o CENTRE RENÉ HUGUENIN   (France)

^p INSTITUT GUSTAVE ROUSSY   (France)

^q HEINRICH HEINE UNIVERSITY   (Germany)

^r GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^s UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^t ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^u GUY S HOSPITAL   (United Kingdom)

^v UNIVERSITY OF ST ANDREWS   (United Kingdom)

^w INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^x NATIONAL INSTITUTE OF ONCOLOGY   (Hungary)

^y OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^z SHEBA MEDICAL CENTER   (Israel)

^aa NATIONAL CANCER INSTITUTE   (Italy)

^ab UNIVERSITY OF PADOVA   (Italy)

^ac UNIVERSITY OF PISA   (Italy)

^ad LEIDEN UNIVERSITY   (Netherlands)

^ae UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^af OSLO UNIVERSITY HOSPITAL   (Norway)

^ag LUND UNIVERSITY HOSPITAL   (Sweden)

^ah HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^ai Fundacion Jimeunez Diaz   (Spain)

^aj UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^ak BILKENT UNIVERSITY   (Turkey)

^al UNIVERSITY OF NORTH CAROLINA   (United States)

^am MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

^an UNIVERSITY OF PENNSYLVANIA   (United States)

^ao MAYO CLINIC   (United States)

^ap UNIVERSITY OF UTAH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUSTRALIA; BELGIUM; BREAST CANCER; CANADA; EXON; FRAMESHIFT MUTATION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC SCREENING; GEOGRAPHY; HAPLOTYPE; OVARY CANCER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; UNITED STATES;

EID: 0033909581     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302974     Document Type: Article

References (8)

1. Montagna M, Santacatterina M, Torri A, Menin C, Zullato D, Chieco-Bianchi L, D'Andrea E (1999) Identification of a 3 kb Alu-mediated BRCA1 gene rearrangement in two breast/ovarian cancer families. Oncogene 18:4160-4165
2. Petrij-Bosch A, Peelen T, van Vliet M, van Eijk R, Olmer R, Drusedau M, Hogervorst FBL, et al (1997) BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet 17:341-345
3. Puget N, Sinilnikova OM, Stoppa-Lyonnet D, Audoynaud C, Pagès S, Lynch HT, Goldgar D, et al (1999a) An Alu-mè diated 6-kb duplication in the BRCA1 gene: a new founder mutation? Am J Hum Genet 64:300-302
4. Puget N, Stoppa-Lyonnet D, Sinilnikova OM, Pagès S, Lynch HT, Lenoir GM, Mazoyer S (1999b) Screening for germline rearrangements and regulatory mutations in BRCA1 led to the identification of four new deletions. Cancer Res 59: 455-461
5. Puget N, Torchard D, Serova-Sinilnikova OM, Lynch HT, Feunteun J, Lenoir GM, Mazoyer S (1997) A 1-kb Alu-mediated germ-line deletion removing BRCA1 exon 17. Cancer Res 57:828-831
6. Rohlfs EM, Puget N, Graham ML, Silverman LM, Garber JE, Skrzynia C, Halperin JL, et al (2000) An Alu-mediated 7.1 kb deletion of BRCA1 in breast and ovarian cancer families with evidence for a founder effect. Genes Chromosomes Cancer 28:300-307
7. Swensen J, Hoffman M, Skolnick MH, Neuhausen SL (1997) Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Hum Mol Genet 6:1513-1517
8. Tonin P, Weber B, Offit K, Couch F, Rebbeck TR, Neuhausen S, Godwin AK, et al (1996) Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 2:1179-1183