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DOI 10.1016/j.ajhg.2021.09.003

Медицинская библиотека · American journal of human genetics · 2021

Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.

Caputo Sandrine M, Golmard Lisa, Léone Mélanie, Damiola Francesca, Guillaud-Bataille Marine, Revillion Françoise, Rouleau Etienne, Derive Nicolas, Buisson Adrien, Basset Noémie, Schwartz Mathias, Vilquin Paul, Garrec Celine, Privat Maud, Gay-Bellile Mathilde, Abadie Caroline, Abidallah Khadija, Airaud Fabrice, Allary Anne-Sophie, Barouk-Simonet Emmanuelle, Belotti Muriel, Benigni Charlotte, Benusiglio Patrick R, Berthemin Christelle, Berthet Pascaline, Bertrand Ophelie, Bézieau Stéphane, Bidart Marie, Bignon Yves-Jean, Birot Anne-Marie, Blanluet Maud, Bloucard Amelie, Bombled Johny, Bonadona Valerie, Bonnet Françoise, Bonnet-Dupeyron Marie-Noëlle, Boulaire Manon, Boulouard Flavie, Bouras Ahmed, Bourdon Violaine, Brahimi Afane, Brayotel Fanny, Bressac de Paillerets Brigitte, Bronnec Noémie, Bubien Virginie, Buecher Bruno, Cabaret Odile, Carriere Jennifer, Chiesa Jean, Chieze-Valéro Stephanie, Cohen Camille, Cohen-Haguenauer Odile, Colas Chrystelle, Collonge-Rame Marie-Agnès, Conoy Anne-Laure, Coulet Florence, Coupier Isabelle, Crivelli Louise, Cusin Véronica, De Pauw Antoine, Dehainault Catherine, Delhomelle Hélène, Delnatte Capucine, Demontety Sophie, Denizeau Philippe, Devulder Pierre, Dreyfus Helene, d'Enghein Catherine Dubois, Dupré Anaïs, Durlach Anne, Dussart Sophie, Fajac Anne, Fekairi Samira, Fert-Ferrer Sandra, Fiévet Alice, Fouillet Robin, Mouret-Fourme Emmanuelle, Gauthier-Villars Marion, Gesta Paul, Giraud Sophie, Gladieff Laurence, Goldbarg Veronica, Goussot Vincent, Guibert Virginie, Guillerm Erell, Guy Christophe, Hardouin Agnès, Heude Céline, Houdayer Claude, Ingster Olivier, Jacquot-Sawka Caroline, Jones Natalie, Krieger Sophie, Lacoste Sofiane, Lallaoui Hakima, Larbre Helene, Laugé Anthony, Le Guyadec Gabrielle, Le Mentec Marine, Lecerf Caroline, Le Gall Jessica, Legendre Bérengère, Legrand Clémentine, Legros Angélina, Lejeune Sophie, Lidereau Rosette, Lignon Norbert, Limacher Jean-Marc, Doriane Livon, Lizard Sarab, Longy Michel, Lortholary Alain, Macquere Pierre, Mailliez Audrey, Malsa Sarah, Margot Henri, Mari Véronique, Maugard Christine, Meira Cindy, Menjard Julie, Molière Diane, Moncoutier Virginie, Moretta-Serra Jessica, Muller Etienne, Nevière Zoe, Nguyen Minh Tuan Thien-Vu, Noguchi Tetsuro, Noguès Catherine, Oca Florine, Popovici Cornel, Prieur Fabienne, Raad Sabine, Rey Jean-Marc, Ricou Agathe, Salle Lucie, Saule Claire, Sevenet Nicolas, Simaga Fatoumata, Sobol Hagay, Suybeng Voreak, Tennevet Isabelle, Tenreiro Henrique, Tinat Julie, Toulas Christine, Turbiez Isabelle, Uhrhammer Nancy, Vande Perre Pierre, Vaur Dominique, Venat Laurence, Viellard Nicolas, Villy Marie-Charlotte, Warcoin Mathilde, Yvard Alice, Zattara Helene, Caron Olivier, Lasset Christine, Remenieras Audrey, Boutry-Kryza Nadia, Castéra Laurent, Stoppa-Lyonnet Dominique

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Аннотация

Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs. The classification method was a multifactorial model combining different associations between VUSs and cancer, including cosegregation data. At this time, among the 653 variants selected, 101 (15%) distinct variants shared by 1,624 families were classified as pathogenic/likely pathogenic or benign/likely benign by the COVAR study. Sixty-six of the 101 (65%) variants classified by COVAR would have remained VUSs without cosegregation data. Of note, among the 34 variants classified as pathogenic by COVAR, 16 remained VUSs or likely pathogenic when following the ACMG/AMP variant classification guidelines. Although the initiation and organization of cosegregation analyses require a considerable effort, the growing number of available genetic tests results in an increasing number of families sharing a particular variant, and thereby increases the power of such analyses. Here we demonstrate that variant cosegregation analyses are a powerful tool for the classification of variants in the BRCA1/2 breast-ovarian cancer predisposition genes.

Для цитирования: Caputo Sandrine M, Golmard Lisa, Léone Mélanie, Damiola Francesca, Guillaud-Bataille Marine, Revillion Françoise, Rouleau Etienne, Derive Nicolas, Buisson Adrien, Basset Noémie, Schwartz Mathias, Vilquin Paul, Garrec Celine, Privat Maud, Gay-Bellile Mathilde, Abadie Caroline, Abidallah Khadija, Airaud Fabrice, Allary Anne-Sophie, Barouk-Simonet Emmanuelle, Belotti Muriel, Benigni Charlotte, Benusiglio Patrick R, Berthemin Christelle, Berthet Pascaline, Bertrand Ophelie, Bézieau Stéphane, Bidart Marie, Bignon Yves-Jean, Birot Anne-Marie, Blanluet Maud, Bloucard Amelie, Bombled Johny, Bonadona Valerie, Bonnet Françoise, Bonnet-Dupeyron Marie-Noëlle, Boulaire Manon, Boulouard Flavie, Bouras Ahmed, Bourdon Violaine, Brahimi Afane, Brayotel Fanny, Bressac de Paillerets Brigitte, Bronnec Noémie, Bubien Virginie, Buecher Bruno, Cabaret Odile, Carriere Jennifer, Chiesa Jean, Chieze-Valéro Stephanie, Cohen Camille, Cohen-Haguenauer Odile, Colas Chrystelle, Collonge-Rame Marie-Agnès, Conoy Anne-Laure, Coulet Florence, Coupier Isabelle, Crivelli Louise, Cusin Véronica, De Pauw Antoine, Dehainault Catherine, Delhomelle Hélène, Delnatte Capucine, Demontety Sophie, Denizeau Philippe, Devulder Pierre, Dreyfus Helene, d'Enghein Catherine Dubois, Dupré Anaïs, Durlach Anne, Dussart Sophie, Fajac Anne, Fekairi Samira, Fert-Ferrer Sandra, Fiévet Alice, Fouillet Robin, Mouret-Fourme Emmanuelle, Gauthier-Villars Marion, Gesta Paul, Giraud Sophie, Gladieff Laurence, Goldbarg Veronica, Goussot Vincent, Guibert Virginie, Guillerm Erell, Guy Christophe, Hardouin Agnès, Heude Céline, Houdayer Claude, Ingster Olivier, Jacquot-Sawka Caroline, Jones Natalie, Krieger Sophie, Lacoste Sofiane, Lallaoui Hakima, Larbre Helene, Laugé Anthony, Le Guyadec Gabrielle, Le Mentec Marine, Lecerf Caroline, Le Gall Jessica, Legendre Bérengère, Legrand Clémentine, Legros Angélina, Lejeune Sophie, Lidereau Rosette, Lignon Norbert, Limacher Jean-Marc, Doriane Livon, Lizard Sarab, Longy Michel, Lortholary Alain, Macquere Pierre, Mailliez Audrey, Malsa Sarah, Margot Henri, Mari Véronique, Maugard Christine, Meira Cindy, Menjard Julie, Molière Diane, Moncoutier Virginie, Moretta-Serra Jessica, Muller Etienne, Nevière Zoe, Nguyen Minh Tuan Thien-Vu, Noguchi Tetsuro, Noguès Catherine, Oca Florine, Popovici Cornel, Prieur Fabienne, Raad Sabine, Rey Jean-Marc, Ricou Agathe, Salle Lucie, Saule Claire, Sevenet Nicolas, Simaga Fatoumata, Sobol Hagay, Suybeng Voreak, Tennevet Isabelle, Tenreiro Henrique, Tinat Julie, Toulas Christine, Turbiez Isabelle, Uhrhammer Nancy, Vande Perre Pierre, Vaur Dominique, Venat Laurence, Viellard Nicolas, Villy Marie-Charlotte, Warcoin Mathilde, Yvard Alice, Zattara Helene, Caron Olivier, Lasset Christine, Remenieras Audrey, Boutry-Kryza Nadia, Castéra Laurent, Stoppa-Lyonnet Dominique. Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.. American journal of human genetics. 2021. DOI: 10.1016/j.ajhg.2021.09.003.

Предметные рубрики MeSH

BRCA1 ProteinBRCA2 ProteinBreast NeoplasmsFemaleGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenotypeHumansOvarian Neoplasms
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