P
Pascal Pujol
Researcher at French Institute of Health and Medical Research
Publications - 89
Citations - 5156
Pascal Pujol is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Breast cancer & Cancer. The author has an hindex of 31, co-authored 78 publications receiving 4661 citations.
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Journal ArticleDOI
Exemestane for Breast-Cancer Prevention in Postmenopausal Women
Paul E. Goss,James N. Ingle,José E. Alés-Martínez,Angela M. Cheung,Rowan T. Chlebowski,Jean Wactawski-Wende,Anne McTiernan,John A Robbins,Karen C. Johnson,Lisa W. Martin,Eric Winquist,Gloria E. Sarto,Judy Garber,Carol J. Fabian,Pascal Pujol,Elizabeth Maunsell,Patricia L. Farmer,Karen A. Gelmon,Dongsheng Tu,Harriet Richardson +19 more
TL;DR: Exemestane significantly reduced invasive breast cancers in postmenopausal women who were at moderately increased risk for breast cancer and was associated with no serious toxic effects and only minimal changes in health-related quality of life.
Journal ArticleDOI
Loss of ERbeta expression as a common step in estrogen-dependent tumor progression.
TL;DR: The characterization of estrogen receptor beta brought new insight into the mechanisms underlying estrogen signaling, and the potential distinct roles of ERalpha and ERbeta expression in carcinogenesis, as suggested by experimental and clinical data are discussed in this review.
Journal ArticleDOI
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
Fergus J. Couch,Xianshu Wang,Lesley McGuffog,Andy C. H. Lee,Curtis Olswold,Karoline Kuchenbaecker,Penny Soucy,Zachary S. Fredericksen,Daniel Barrowdale,Joe Dennis,Mia M. Gaudet,Ed Dicks,Matthew L. Kosel,Sue Healey,Olga M. Sinilnikova,Adam M. Lee,Francois Bacot,Daniel Vincent,Frans B. L. Hogervorst,Susan Peock,Dominique Stoppa-Lyonnet,Anna Jakubowska,Paolo Radice,Rita K. Schmutzler,Susan M. Domchek,Marion Piedmonte,Christian F. Singer,Eitan Friedman,Mads Thomassen,Thomas Hansen,Susan L. Neuhausen,Csilla Szabo,Ignacio Blanco,Mark H. Greene,Beth Y. Karlan,Judy Garber,Catherine M. Phelan,Jeffrey N. Weitzel,Marco Montagna,Edith Olah,Irene L. Andrulis,Andrew K. Godwin,Drakoulis Yannoukakos,David E. Goldgar,Trinidad Caldés,Heli Nevanlinna,Ana Osorio,Mary Beth Terry,Mary B. Daly,Elizabeth J. van Rensburg,Ute Hamann,Susan J. Ramus,Amanda E. Toland,Maria A. Caligo,Olufunmilayo I. Olopade,Nadine Tung,Kathleen Claes,Mary S. Beattie,Melissa C. Southey,Evgeny N. Imyanitov,Marc Tischkowitz,Ramunas Janavicius,Esther M. John,Ava Kwong,Orland Diez,Judith Balmaña,Rosa B. Barkardottir,Banu Arun,Gad Rennert,Soo Hwang Teo,Patricia A. Ganz,Ian G. Campbell,Annemarie H. van der Hout,Carolien H.M. van Deurzen,Caroline Seynaeve,Encarna B. Gomez Garcia,Flora E. van Leeuwen,Hanne Meijers-Heijboer,Johannes J. P. Gille,Margreet G. E. M. Ausems,Marinus J. Blok,Marjolijn J. L. Ligtenberg,Matti A. Rookus,Peter Devilee,Senno Verhoef,Theo A. M. van Os,Juul T. Wijnen,Debra Frost,Steve Ellis,Elena Fineberg,Radka Platte,D. Gareth Evans,Louise Izatt,Rosalind A. Eeles,Julian Adlard,Diana Eccles,Jackie Cook,Carole Brewer,Fiona Douglas,Shirley Hodgson,Patrick J. Morrison,Lucy Side,Alan Donaldson,C. E. Houghton,Mark T. Rogers,Huw Dorkins,Jacqueline Eason,Helen Gregory,Emma McCann,Alex Murray,Alain Calender,Agnès Hardouin,Pascaline Berthet,Capucine Delnatte,Catherine Noguès,Christine Lasset,Claude Houdayer,Dominique Leroux,Etienne Rouleau,Fabienne Prieur,Francesca Damiola,Hagay Sobol,Isabelle Coupier,Laurence Venat-Bouvet,Laurent Castera,Marion Gauthier-Villars,Mélanie Léoné,Pascal Pujol,Sylvie Mazoyer,Yves-Jean Bignon,Elżbieta Złowocka-Perłowska,Jacek Gronwald,Jan Lubinski,Katarzyna Durda,Katarzyna Jaworska,Tomasz Huzarski,Amanda B. Spurdle,Alessandra Viel,Bernard Peissel,Bernardo Bonanni,Giulia Melloni,Laura Ottini,Laura Papi,Liliana Varesco,Maria Grazia Tibiletti,Paolo Peterlongo,Sara Volorio,Siranoush Manoukian,Valeria Pensotti,Norbert Arnold,Christoph Engel,Helmut Deissler,Dorothea Gadzicki,Andrea Gehrig,Karin Kast,Kerstin Rhiem,Alfons Meindl,Dieter Niederacher,Nina Ditsch,Hansjoerg Plendl,Sabine Preisler-Adams,Stefanie Engert,Christian Sutter,Raymonda Varon-Mateeva,Barbara Wappenschmidt,Bernhard H. F. Weber,Brita Arver,Marie Stenmark-Askmalm,Niklas Loman,Richard Rosenquist,Zakaria Einbeigi,Katherine L. Nathanson,Timothy R. Rebbeck,Stephanie V. Blank,David E. Cohn,Gustavo C. Rodriguez,Laurie Small,Michael Friedlander,Victoria L. Bae-Jump,Anneliese Fink-Retter,Christine Rappaport,Daphne Gschwantler-Kaulich,Georg Pfeiler,Muy-Kheng Tea,Noralane M. Lindor,Bella Kaufman,Shani Shimon Paluch,Yael Laitman,Anne-Bine Skytte,Anne-Marie Gerdes,Inge Søkilde Pedersen,Sanne Traasdahl Moeller,Torben A Kruse,Uffe Birk Jensen,Joseph Vijai,Kara Sarrel,Mark E. Robson,Noah D. Kauff,Anna Marie Mulligan,Gord Glendon,Hilmi Ozcelik,Bent Ejlertsen,Finn Cilius Nielsen,Lars Jønson,Mette K. Andersen,Yuan Chun Ding,Linda Steele,Lenka Foretova,Alex Teulé,Conxi Lázaro,Joan Brunet,Miquel Angel Pujana,Phuong L. Mai,Jennifer T. Loud,Christine Walsh,Jenny Lester,Sandra Orsulic,Steven A. Narod,Josef Herzog,Sharon Sand,Silvia Tognazzo,Simona Agata,Tibor Vaszko,JoEllen Weaver,Alexandra V. Stavropoulou,Saundra S. Buys,Atocha Romero,Miguel de la Hoya,Kristiina Aittomäki,Taru A. Muranen,Mercedes Durán,Wendy K. Chung,Adriana Lasa,Cecilia M. Dorfling,Alexander Miron,Javier Benitez,Leigha Senter,Dezheng Huo,Salina B. Chan,Anna P. Sokolenko,Jocelyne Chiquette,Laima Tihomirova,Tara M. Friebel,Bjarni A. Agnarsson,Karen H. Lu,Flavio Lejbkowicz,Paul A. James,Per Hall,Alison M. Dunning,Daniel C. Tessier,Julie M. Cunningham,Susan L. Slager,Chen Wang,Steven N. Hart,Kristen N. Stevens,Jacques Simard,Tomi Pastinen,Vernon S. Pankratz,Kenneth Offit,Douglas F. Easton,Georgia Chenevix-Trench,Antonis C. Antoniou +261 more
TL;DR: It is estimated that the breast cancer lifetime risks for the5% of BRCA1 carriers at lowest risk are 28%–50% compared to 81%–100% for the 5% at highest risk, and the ovarian cancer lifetime risk is 63% or higher, based on the known cancer risk-modifying loci.
Journal ArticleDOI
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Catherine M. Phelan,Karoline Kuchenbaecker,Karoline Kuchenbaecker,Jonathan Tyrer,Siddhartha Kar,Kate Lawrenson,Stacey J. Winham,Joe Dennis,Ailith Pirie,Marjorie J. Riggan,Ganna Chornokur,Madalene Earp,Paulo C Lyra,Janet M. Lee,Simon G. Coetzee,Jonathan Beesley,Lesley McGuffog,Penny Soucy,Ed Dicks,Andrew Lee,Daniel Barrowdale,Julie Lecarpentier,Goska Leslie,Cora M. Aalfs,Katja K.H. Aben,Marcia Adams,Julian Adlard,Irene L. Andrulis,Irene L. Andrulis,Hoda Anton-Culver,Natalia Antonenkova,Gerasimos Aravantinos,Norbert Arnold,Banu Arun,Brita Arver,Jacopo Azzollini,Judith Balmaña,Susana Banerjee,Laure Barjhoux,Rosa B. Barkardottir,Yukie Bean,Matthias W. Beckmann,Alicia Beeghly-Fadiel,Javier Benitez,Marina Bermisheva,Marcus Q. Bernardini,Michael J. Birrer,Line Bjørge,Line Bjørge,Amanda Black,Kenneth Blankstein,Marinus J. Blok,Clara Bodelon,Natalia Bogdanova,Anders Bojesen,Bernardo Bonanni,Åke Borg,Angela R. Bradbury,James D. Brenton,Carole Brewer,Louise A. Brinton,Per Broberg,Angela Brooks-Wilson,Fiona Bruinsma,Joan Brunet,Bruno Buecher,Ralf Bützow,Saundra S. Buys,Trinidad Caldés,Maria A. Caligo,Ian G. Campbell,Ian G. Campbell,Rikki Cannioto,Michael E. Carney,Terence Cescon,Salina B. Chan,Jenny Chang-Claude,Jenny Chang-Claude,Stephen J. Chanock,Xiaoqing Chen,Yoke-Eng Chiew,Yoke-Eng Chiew,Jocelyne Chiquette,Wendy K. Chung,Kathleen Claes,Thomas Conner,Linda S. Cook,Jackie Cook,Daniel W. Cramer,Julie M. Cunningham,Aimee A D'Aloisio,Mary B. Daly,Francesca Damiola,Sakaeva Dina Damirovna,Agnieszka Dansonka-Mieszkowska,Fanny Dao,Rosemarie Davidson,Anna deFazio,Anna deFazio,Capucine Delnatte,Kimberly F. Doheny,Orland Diez,Yuan Chun Ding,Jennifer A. Doherty,Susan M. Domchek,Cecilia M. Dorfling,Thilo Dörk,Laure Dossus,Mercedes Durán,Matthias Dürst,Bernd Dworniczak,Diana Eccles,Todd L. Edwards,Ros Eeles,Ursula Eilber,Bent Ejlertsen,Arif B. Ekici,Steve Ellis,Mingajeva Elvira,Kevin H. Eng,Christoph Engel,D. Gareth Evans,Peter A. Fasching,Peter A. Fasching,Sarah E. Ferguson,Sandra Fert Ferrer,James M. Flanagan,Zachary C. Fogarty,Renée T. Fortner,Florentia Fostira,William D. Foulkes,George Fountzilas,Brooke L. Fridley,Tara M. Friebel,Eitan Friedman,Eitan Friedman,Debra Frost,Patricia A. Ganz,Judy Garber,María Josefa Mosteiro García,Vanesa García-Barberán,Andrea Gehrig,Aleksandra Gentry-Maharaj,Anne-Marie Gerdes,Graham G. Giles,Graham G. Giles,Graham G. Giles,Rosalind Glasspool,Gord Glendon,Andrew K. Godwin,David E. Goldgar,Teodora Goranova,Martin Gore,Mark H. Greene,Jacek Gronwald,Stephen B. Gruber,Eric Hahnen,Christopher A. Haiman,Niclas Håkansson,Ute Hamann,Thomas Hansen,Patricia Harrington,Holly R. Harris,Jan Hauke,Alexander Hein,Alex Henderson,Michelle A.T. Hildebrandt,Peter Hillemanns,Shirley Hodgson,Claus Høgdall,Estrid Høgdall,Frans B. L. Hogervorst,Helene Holland,Maartje J. Hooning,Karen Hosking,Ruea-Yea Huang,Peter J. Hulick,Jillian Hung,Jillian Hung,David J. Hunter,David G. Huntsman,Tomasz Huzarski,Evgeny N. Imyanitov,Claudine Isaacs,Edwin S. Iversen,Louise Izatt,Angel Izquierdo,Anna Jakubowska,Paul A. James,Paul A. James,Ramunas Janavicius,Mats Jernetz,Allan Jensen,Uffe Birk Jensen,Esther M. John,Sharon E. Johnatty,Michael Jones,Päivi Kannisto,Beth Y. Karlan,Anthony N. Karnezis,Karin Kast,Catherine J. Kennedy,Catherine J. Kennedy,Elza Khusnutdinova,Lambertus A. Kiemeney,Johanna I. Kiiski,Sung-Won Kim,Susanne K. Kjaer,Martin Köbel,Reidun K. Kopperud,Reidun K. Kopperud,Torben A Kruse,Jolanta Kupryjanczyk,Ava Kwong,Yael Laitman,Yael Laitman,Diether Lambrechts,Nerea Larrañaga,Melissa C. Larson,Conxi Lázaro,Nhu D. Le,Loic Le Marchand,Jong Won Lee,Shashikant Lele,Arto Leminen,Dominique Leroux,Jenny Lester,Fabienne Lesueur,Fabienne Lesueur,Douglas A. Levine,Dong Liang,Clemens Liebrich,Jenna Lilyquist,Loren Lipworth,Jolanta Lissowska,Karen H. Lu,Jan Lubinński,Craig Luccarini,Lene Lundvall,Phuong L. Mai,Gustavo Mendoza-Fandiño,Siranoush Manoukian,Leon F.A.G. Massuger,Taymaa May,Sylvie Mazoyer,Jessica N. McAlpine,Valerie McGuire,John R. McLaughlin,Iain A. McNeish,Hanne Meijers-Heijboer,Alfons Meindl,Usha Menon,Arjen R. Mensenkamp,Melissa A. Merritt,Roger L. Milne,Roger L. Milne,Gillian Mitchell,Gillian Mitchell,Francesmary Modugno,Joanna Moes-Sosnowska,Melissa Moffitt,Marco Montagna,Kirsten B. Moysich,Anna Marie Mulligan,Anna Marie Mulligan,Jacob Musinsky,Katherine L. Nathanson,Lotte Nedergaard,Roberta B. Ness,Susan L. Neuhausen,Heli Nevanlinna,Dieter Niederacher,Robert L. Nussbaum,Kunle Odunsi,Edith Olah,Olufunmilayo I. Olopade,Håkan Olsson,Curtis Olswold,David M. O'Malley,Kai-ren Ong,N. Charlotte Onland-Moret,Nick Orr,Sandra Orsulic,Ana Osorio,Domenico Palli,Laura Papi,Tjoung-Won Park-Simon,James Paul,Celeste Leigh Pearce,Celeste Leigh Pearce,Inge Søkilde Pedersen,Petra H.M. Peeters,Bernard Peissel,Ana Peixoto,Tanja Pejovic,Liisa M. Pelttari,Jennifer B. Permuth,Paolo Peterlongo,Lidia Pezzani,Georg Pfeiler,Kelly-Anne Phillips,Kelly-Anne Phillips,Marion Piedmonte,Malcolm C. Pike,Malcolm C. Pike,Anna M. Piskorz,Samantha Poblete,Timea Pocza,Elizabeth M. Poole,Bruce Poppe,Mary Porteous,Fabienne Prieur,Darya Prokofyeva,Elizabeth W. Pugh,Miquel Angel Pujana,Pascal Pujol,Paolo Radice,Johanna Rantala,Christine Rappaport-Fuerhauser,Gad Rennert,Kerstin Rhiem,Patricia Rice,Andrea L. Richardson,Mark E. Robson,Gustavo C. Rodriguez,Cristina Rodríguez-Antona,Jane Romm,Matti A. Rookus,Mary Anne Rossing,Joseph H. Rothstein,Anja Rudolph,Ingo B. Runnebaum,Helga B. Salvesen,Helga B. Salvesen,Dale P. Sandler,Minouk J. Schoemaker,Leigha Senter,V. Wendy Setiawan,Gianluca Severi,Priyanka Sharma,Tameka Shelford,Nadeem Siddiqui,Lucy Side,Weiva Sieh,Christian F. Singer,Hagay Sobol,Honglin Song,Melissa C. Southey,Amanda B. Spurdle,Zsofia K. Stadler,Doris Steinemann,Dominique Stoppa-Lyonnet,Lara E. Sucheston-Campbell,Grzegorz Sukiennicki,Rebecca Sutphen,Christian Sutter,Anthony J. Swerdlow,Anthony J. Swerdlow,Csilla Szabo,Lukasz Szafron,Yen Y. Tan,Jack A. Taylor,Muy-Kheng Tea,Manuel R. Teixeira,Soo Hwang Teo,Kathryn L. Terry,Kathryn L. Terry,Pamela J. Thompson,Liv Cecilie Vestrheim Thomsen,Liv Cecilie Vestrheim Thomsen,Darcy L. Thull,Laima Tihomirova,Anna V. Tinker,Marc Tischkowitz,Silvia Tognazzo,Amanda E. Toland,Alicia A. Tone,Britton Trabert,Ruth C. Travis,Antonia Trichopoulou,Nadine Tung,Shelley S. Tworoger,Shelley S. Tworoger,Anne M. van Altena,David Van Den Berg,Annemarie H. van der Hout,Rob B. van der Luijt,Mattias Van Heetvelde,Els Van Nieuwenhuysen,Elizabeth J. van Rensburg,Adriaan Vanderstichele,Raymonda Varon-Mateeva,Ana Vega,Digna R. Velez Edwards,Digna R. Velez Edwards,Ignace Vergote,Robert A. Vierkant,Joseph Vijai,Athanassios Vratimos,Lisa Walker,Christine Walsh,Dorothea Wand,Shan Wang-Gohrke,Barbara Wappenschmidt,Penelope M. Webb,Clarice R. Weinberg,Jeffrey N. Weitzel,Nicolas Wentzensen,Alice S. Whittemore,Juul T. Wijnen,Lynne R. Wilkens,Alicja Wolk,Michelle M.M. Woo,Xifeng Wu,Anna H. Wu,Hannah P. Yang,Drakoulis Yannoukakos,Argyrios Ziogas,Kristin K. Zorn,Steven A. Narod,Douglas F. Easton,Christopher I. Amos,Joellen M. Schildkraut,Susan J. Ramus,Susan J. Ramus,Laura Ottini,Marc T. Goodman,Sue K. Park,Linda E. Kelemen,Harvey A. Risch,Mads Thomassen,Kenneth Offit,Jacques Simard,Rita K. Schmutzler,Dennis J. Hazelett,Alvaro N.A. Monteiro,Fergus J. Couch,Andrew Berchuck,Georgia Chenevix-Trench,Ellen L. Goode,Thomas A. Sellers,Simon A. Gayther,Antonis C. Antoniou,Paul D.P. Pharoah +443 more
TL;DR: Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.
Journal ArticleDOI
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Timothy R. Rebbeck,Tara M. Friebel,Eitan Friedman,Ute Hamann,Dezheng Huo,Ava Kwong,Edith Olah,Olufunmilayo I. Olopade,Angela R. Solano,Soo-Hwang Teo,Mads Thomassen,Jeffrey N. Weitzel,Tsun Leung Chan,Fergus J. Couch,David E. Goldgar,Torben A Kruse,Edenir Inêz Palmero,Sue K. Park,Sue K. Park,Diana Torres,Diana Torres,Elizabeth J. van Rensburg,Lesley McGuffog,Michael T. Parsons,Goska Leslie,Cora M. Aalfs,Julio Abugattas,Julian Adlard,Simona Agata,Kristiina Aittomäki,Lesley Andrews,Irene L. Andrulis,Irene L. Andrulis,Adalgeir Arason,Norbert Arnold,Banu Arun,Ella Asseryanis,Leo Auerbach,Jacopo Azzollini,Judith Balmaña,Monica Barile,Rosa B. Barkardottir,Daniel Barrowdale,Javier Benitez,Andreas Berger,Raanan Berger,Amie Blanco,Kathleen R. Blazer,Marinus J. Blok,Valérie Bonadona,Bernardo Bonanni,Angela R. Bradbury,Carole Brewer,Bruno Buecher,Saundra S. Buys,Trinidad Caldés,Almuth Caliebe,Maria A. Caligo,Ian G. Campbell,Sandrine M. Caputo,Jocelyne Chiquette,Wendy K. Chung,Kathleen Claes,J. Margriet Collée,Jackie Cook,Rosemarie Davidson,Miguel de la Hoya,Kim De Leeneer,Antoine De Pauw,Capucine Delnatte,Orland Diez,Yuan Chun Ding,Nina Ditsch,Susan M. Domchek,Cecilia M. Dorfling,Carolina Velázquez,Bernd Dworniczak,Jacqueline Eason,Douglas F. Easton,Ros Eeles,Hans Ehrencrona,Bent Ejlertsen,Embrace,Christoph Engel,Stefanie Engert,D. Gareth Evans,Laurence Faivre,Lídia Feliubadaló,Sandra Fert Ferrer,Lenka Foretova,Jeffrey M. Fowler,Debra Frost,Henrique de Campos Reis Galvão,Patricia A. Ganz,Judy Garber,Marion Gauthier-Villars,Andrea Gehrig,Anne-Marie Gerdes,Paul Gesta,Giuseppe Giannini,Sophie Giraud,Gord Glendon,Andrew K. Godwin,Mark H. Greene,Jacek Gronwald,Angelica M. Gutierrez-Barrera,Eric Hahnen,Jan Hauke,Hebon,Alex Henderson,Julia Hentschel,Frans B. L. Hogervorst,Ellen Honisch,Evgeny N. Imyanitov,Claudine Isaacs,Louise Izatt,Angel Izquierdo,Anna Jakubowska,Paul A. James,Ramunas Janavicius,Uffe Birk Jensen,Esther M. John,Esther M. John,Joseph Vijai,Katarzyna Kaczmarek,Beth Y. Karlan,Karin Kast,kConFab Investigators,Sung-Won Kim,Irene Konstantopoulou,Jacob Korach,Yael Laitman,Adriana Lasa,Christine Lasset,Conxi Lázaro,Annette Lee,Min Hyuk Lee,Jenny Lester,Fabienne Lesueur,Annelie Liljegren,Noralane M. Lindor,Michel Longy,Jennifer T. Loud,Karen H. Lu,Jan Lubinski,Eva Machackova,Siranoush Manoukian,Véronique Mari,Cristina Martínez-Bouzas,Zoltan Matrai,Noura Mebirouk,Hanne Meijers-Heijboer,Alfons Meindl,Arjen R. Mensenkamp,Ugnius Mickys,Austin Miller,Marco Montagna,Kirsten B. Moysich,Anna Marie Mulligan,Jacob Musinsky,Susan L. Neuhausen,Heli Nevanlinna,Joanne Ngeow,Huu Phuc Nguyen,Dieter Niederacher,Henriette Roed Nielsen,Finn Cilius Nielsen,Robert L. Nussbaum,Kenneth Offit,Anna Öfverholm,Kai-ren Ong,Ana Osorio,Laura Papi,János Papp,Barbara Pasini,Inge Søkilde Pedersen,Ana Peixoto,Nina Peruga,Paolo Peterlongo,Esther Pohl,Nisha Pradhan,Karolina Prajzendanc,Fabienne Prieur,Pascal Pujol,Paolo Radice,Susan J. Ramus,Susan J. Ramus,Johanna Rantala,Muhammad Usman Rashid,Kerstin Rhiem,Mark E. Robson,Gustavo C. Rodriguez,Mark T. Rogers,Vilius Rudaitis,Ane Y. Schmidt,Rita K. Schmutzler,Leigha Senter,Payal D. Shah,Priyanka Sharma,Lucy Side,Jacques Simard,Christian F. Singer,Anne-Bine Skytte,Thomas P. Slavin,Katie Snape,Hagay Sobol,Melissa C. Southey,Linda Steele,Doris Steinemann,Grzegorz Sukiennicki,Christian Sutter,Csilla Szabo,Yen Y. Tan,Manuel R. Teixeira,Mary Beth Terry,Alex Teulé,Abigail Thomas,Darcy L. Thull,Marc Tischkowitz,Silvia Tognazzo,Amanda E. Toland,Sabine Topka,Alison H. Trainer,Nadine Tung,Christi J. van Asperen,Annemieke H. van der Hout,Lizet E. van der Kolk,Rob B. van der Luijt,Mattias Van Heetvelde,Liliana Varesco,Raymonda Varon-Mateeva,Ana Vega,Cynthia Villarreal-Garza,Anna von Wachenfeldt,Lisa Walker,Shan Wang-Gohrke,Barbara Wappenschmidt,Bernhard H. F. Weber,Drakoulis Yannoukakos,Sook-Yee Yoon,Cristina Zanzottera,Jamal Zidan,Kristin K. Zorn,Christina G. Selkirk,Peter J. Hulick,Georgia Chenevix-Trench,Amanda B. Spurdle,Antonis C. Antoniou,Katherine L. Nathanson +248 more
TL;DR: In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations.