Article
Oncology
Giovanna Barbero, Roberta Zuntini, Pamela Magini, Laura Desiderio, Michela Bonaguro, Anna Myriam Perrone, Daniela Rubino, Mina Grippa, Antonio De Leo, Claudio Ceccarelli, Lea Godino, Sara Miccoli, Simona Ferrari, Donatella Santini, Pierandrea De Iaco, Claudio Zamagni, Giovanni Innella, Daniela Turchetti
Summary: Ovarian cancer is a highly lethal malignancy and genetic defects, including BRCA1 and BRCA2 alterations, are common in patients. A comprehensive study of 30 ovarian cancer patients revealed that 23% had BRCA alterations detectable by clinical testing, while 17% showed epigenetic silencing of BRCA1 in the tumor. Patients with BRCA deficit had greater genomic instability but better survival compared to those without BRCA deficit.
Article
Biochemistry & Molecular Biology
Xiaomin Zhang, Ge Yang, Wenjing Liu, Qing Liu, Zhuoran Wang, Kelong Fan, Feng Qu, Yuanyu Huang
Summary: Using CE-SELEX, four candidate aptamers with a stem-loop structure were selected targeting LRP6 protein. Among them, AptLRP6-A3 showed the highest affinity with LRP6-overexpressed human breast cancer cells. This LRP6 aptamer holds promise for rapid diagnosis and treatment of LRP6-related diseases.
Article
Oncology
Joanne Kotsopoulos, Shana J. Kim, Susan Armel, Louise Bordeleau, William D. Foulkes, Wendy McKinnon, Seema Panchal, Stephanie A. Cohen, Sophie Sun, Ping Sun, Larissa McKetton, Angela K. Troyer, Steven A. Narod
Summary: The study evaluated the impact of surgical, hormonal, and lifestyle factors on memory and attention in women with BRCA mutations. Results showed that women with preventive surgeries had higher cognitive assessment scores, reassuring high-risk women. However, further studies are needed to assess cognitive function over time as memory deficits become more prevalent.
Review
Biochemical Research Methods
Xin Guo, Guan-Hua Chen
Summary: Oligonucleotide aptamers, as a new molecular recognition element, offer advantages such as high affinity and specificity to target molecules. The methodology for screening aptamers is continuously being improved, with capillary electrophoresis-based methods showing increased efficiency and success rates.
BIOMEDICAL CHROMATOGRAPHY
(2021)
Article
Oncology
Hyeong In Ha, Eun Young Park, Kyung Jin Eoh, Yeon Jee Lee, Sang-Soo Seo, Sokbom Kang, Sang-Yoon Park, Myong Cheol Lim
Summary: This study investigated the clinical significance of the ovarian cancer cluster region (OCCR) in BRCA1 and BRCA2 genes. The results showed that patients with BRCA1 pathogenic variants (PVs) in the OCCR region had shorter progression-free survival (PFS) compared to those outside the OCCR. This trend was more pronounced in the platinum-sensitive subgroup. However, no significant differences were found in overall survival (OS) between patients with BRCA1/2 PVs, regardless of the variant location.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Pascal Pujol, Kevin Yauy, Amandine Coffy, Nicolas Duforet-Frebourg, Sana Gabteni, Jean-Pierre Daures, Frederique Penault Llorca, Frederic Thomas, Kevin Hughes, Clare Turnbull, Virginie Galibert, Chloe Rideau, Carole Corsini, Laetitia Collet, Benoit You, David Genevieve, Nicolas Philippe
Summary: The meta-analysis revealed a higher prevalence of gBRCA2 in unselected breast cancer patients. Additionally, the majority of tumors in breast cancer patients with gBRCA are estrogen receptor-positive.
Article
Oncology
Chen Nahshon, Yakir Segev, Meirav Schmidt, Ofer Lavie
Summary: This study examines the attitudes of BRCA1/2 mutation carriers towards surgical risk reduction procedures. The results show high performance rates for risk reduction bilateral salpingo-oophorectomy, though hysterectomy was added in only 10% of cases. Additionally, only 33% of patients opted for risk reduction mastectomy, despite high awareness and acceptance rates. These findings provide important insights for clinicians counseling BRCA1/2 mutation carriers and highlight the need for personalized management plans.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2023)
Review
Cell Biology
Qianyan Li, JoAnne Engebrecht
Summary: Meiosis is a specialized cell cycle resulting in haploid gametes for sexual reproduction, with homologous chromosomes connected by chiasmata. Tumor suppressors BRCA1 and BRCA2, known for their roles in DNA repair, also play regulatory roles in meiosis processes. Studies in mice and nematodes have provided insight into the impact of BRCA mutations on reproductive success in addition to their established roles in cancer.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Chemistry, Analytical
Jingjing Xue, Yiren Cao, Genhan Zha, Zixian Yu, Yuxin Wang, Weiwen Liu, Jicun Ren, Hua Xiao, Qiang Zhang, Chengxi Cao, Li Wei
Summary: In this study, a quadruple UV LED array was designed to directly irradiate gel electrophoresis chips at 275 nm. Simple detection setup using a 365 nm filter, UV camera lens, and CCD was integrated with the small gel electrophoresis chip to construct the IFI-GEC device. The LED array exhibited good evenness and enabled online imaging of the entire gel electrophoresis chip. The reproducible IFI-GEC detection was completed within 10 minutes with a low LOD of 40 ng for lysozyme detection, demonstrating the potential of the IFI-GEC device for stain-free online and portable protein detection.
ANALYTICAL CHEMISTRY
(2023)
Article
Hematology
Charlotte Syrykh, Pauline Gorez, Sarah Pericart, David Grand, Frederic Escudie, Bastien Cabarrou, Lucie Oberic, Loic Ysebaert, Laurence Lamant, Camille Laurent, Solene M. Evrard, Pierre Brousset
Summary: Comparison of PCR and t-NGS techniques in T-cell lymphoma diagnosis showed that t-NGS was more specific in detecting mutations while PCR remained complementary in detecting cases missed by t-NGS. Sensitivity was similar between the two techniques.
Article
Biochemical Research Methods
Chunli Lou, Xiongzhen Ye, Ge Chen, Jidong Zhu, Jingwu Kang
Summary: Epigenetic inheritance in mammals relies on DNA methylation patterns, which is maintained by UHRF1. Overexpression of UHRF1 has been linked to cancer, making it a potential therapeutic target. This study introduced a method using NECEEM to screen inhibitors for blocking UHRF1-mDNA complex formation, leading to the discovery of two natural products as new inhibitors.
JOURNAL OF CHROMATOGRAPHY A
(2021)
Article
Chemistry, Analytical
Weiwen Liu, Ziqi Liang, Yuanyu Wang, Jun Cao, Qiang Zhang, Xiaoping Liu, Yuxing Wang, Chengxi Cao
Summary: A novel online multi-gear capacitively coupled contactless conductivity detection (M-(CD)-D-4) sensor was proposed in this study, with successful development of the model, theory, and digital computation, demonstrating promising results in liquid chromatography experiments.
Review
Oncology
G. Tomasello, D. Gambini, F. Petrelli, J. Azzollini, C. Arcana, M. Ghidini, B. Peissel, S. Manoukian, O. Garrone
Summary: The prevalence of HER2 positivity in breast cancers among BRCA1/2 mutation carriers is relatively low, with variation between BRCA1 and BRCA2 carriers. Further research is needed to better characterize this subgroup of patients and understand the HER2 expression in BRCA mutation carriers.
Article
Chemistry, Multidisciplinary
Velu Duraisamy, Velayutham Sudha, Kuppusamy Annadurai, Sakkarapalayam Murugesan Senthil Kumar, Rangasamy Thangamuthu
Summary: The development of active and defective sites in mesoporous carbon materials is crucial for high-performance sensors. NHCS-1000, with improved surface area, porosity, and N-doping, showed enhanced electrocatalytic activity and was successfully utilized for the simultaneous detection of multiple analytes.
NEW JOURNAL OF CHEMISTRY
(2021)
Article
Oncology
Kelly A. Metcalfe, Andrea Eisen, Frances Wright, Aletta Poll, Alexandra Candib, David McCready, Tulin Cil, Susan Armel, Yael Silberman, Sarah Brennenstuhl, Steven A. Narod
Summary: For women receiving RGT for BRCA1 and BRCA2 at the time of breast cancer diagnosis, the study found that identifying a BRCA1 or BRCA2 mutation does not impair psychosocial functioning in the short or long term. Women with a BRCA1 or BRCA2 mutation had significantly lower depression scores compared to those with a negative result at one year post-testing.
BREAST CANCER RESEARCH AND TREATMENT
(2022)
Article
Oncology
Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M. Dunning, James Redman, James Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen Pooley, Leila Dorling, Andrew Lee, Muriel A. Adank, Julian Adlard, Kristiina Aittomaki, Irene L. Andrulis, Peter Ang, Julian Barwell, Jonine L. Bernstein, Kristie Bobolis, Ake Borg, Carl Blomqvist, Kathleen B. M. Claes, Patrick Concannon, Adeline Cuggia, Julie O. Culver, Francesca Damiola, Antoine de Pauw, Orland Diez, Jill S. Dolinsky, Susan M. Domchek, Christoph Engel, D. Gareth Evans, Florentia Fostira, Judy Garber, Lisa Golmard, Ellen L. Goode, Stephen B. Gruber, Eric Hahnen, Christopher Hake, Tuomas Heikkinen, Judith E. Hurley, Ramunas Janavicius, Zdenek Kleibl, Petra Kleiblova, Irene Konstantopoulou, Anders Kvist, Holly Laduca, Ann S. G. Lee, Fabienne Lesueur, Eamonn R. Maher, Arto Mannermaa, Siranoush Manoukian, Rachel McFarland, Wendy McKinnon, Alfons Meindl, Kelly Metcalfe, Nur Aishah Mohd Taib, Jukka Moilanen, Katherine L. Nathanson, Susan Neuhausen, Pei Sze Ng, Tu Nguyen-Dumont, Sarah M. Nielsen, Florian Obermair, Kenneth Offit, Olufunmilayo Olopade, Laura Ottini, Judith Penkert, Katri Pylkas, Paolo Radice, Susan J. Ramus, Vilius Rudaitis, Lucy Side, Rachel Silva-Smith, Valentina Silvestri, Anne-Bine Skytte, Thomas Slavin, Jana Soukupova, Carlo Tondini, Alison H. Trainer, Gary Unzeitig, Lydia Usha, Thomas van Overeem Hansen, James Whitworth, Marie Wood, Cheng Har Yip, Sook-Yee Yoon, Amal Yussuf, George Zogopoulos, David Goldgar, John L. Hopper, Georgia Chenevix-Trench, Paul Pharoah, Sophia H. L. George, Judith Balmana, Claude Houdayer, Paul James, Zaki El-Haffaf, Hans Ehrencrona, Marketa Janatova, Paolo Peterlongo, Heli Nevanlinna, Rita Schmutzler, Soo-Hwang Teo, Mark Robson, Tuya Pal, Fergus Couch, Jeffrey N. Weitzel, Aaron Elliott, Melissa Southey, Robert Winqvist, Douglas F. Easton, William D. Foulkes, Antonis C. Antoniou, Marc Tischkowitz
JOURNAL OF CLINICAL ONCOLOGY
(2020)
Article
Oncology
Anne Bredart, Julia Dick, Alejandra Cano, Leonore Robieux, Antoine De Pauw, Rita Schmutzler, Dominique Stoppa-Lyonnet, Sylvie Dolbeault, Jean-Luc Kop
Letter
Oncology
Chrystelle Colas, Antoine De Pauw, Lisa Golmard
Article
Genetics & Heredity
Sandrine M. Caputo, Lisa Golmard, Melanie Leone, Francesca Damiola, Marine Guillaud-Bataille, Francoise Revillion, Etienne Rouleau, Nicolas Derive, Adrien Buisson, Noemie Basset, Mathias Schwartz, Paul Vilquin, Celine Garrec, Maud Privat, Mathilde Gay-Bellile, Caroline Abadie, Khadija Abidallah, Fabrice Airaud, Anne-Sophie Allary, Emmanuelle Barouk-Simonet, Muriel Belotti, Charlotte Benigni, Patrick R. Benusiglio, Christelle Berthemin, Pascaline Berthet, Ophelie Bertrand, Stephane Bezieau, Marie Bidart, Yves-Jean Bignon, Anne-Marie Birot, Maud Blanluet, Amelie Bloucard, Johny Bombled, Valerie Bonadona, Francoise Bonnet, Marie-Noelle Bonnet-Dupeyron, Manon Boulaire, Flavie Boulouard, Ahmed Bouras, Violaine Bourdon, Afane Brahimi, Fanny Brayotel, Brigitte Bressac de Paillerets, Noemie Bronnec, Virginie Bubien, Bruno Buecher, Odile Cabaret, Jennifer Carriere, Jean Chiesa, Stephanie Chieze-Valero, Camille Cohen, Odile Cohen-Haguenauer, Chrystelle Colas, Marie-Agnes Collonge-Rame, Anne-Laure Conoy, Florence Coulet, Isabelle Coupier, Louise Crivelli, Veronica Cusin, Antoine De Pauw, Catherine Dehainault, Helene Delhomelle, Capucine Delnatte, Sophie Demontety, Philippe Denizeau, Pierre Devulder, Helene Dreyfus, Catherine Dubois D'Enghein, Anais Dupre, Anne Durlach, Sophie Dussart, Anne Fajac, Samira Fekairi, Sandra Fert-Ferrer, Alice Fievet, Robin Fouillet, Emmanuelle Mouret-Fourme, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Veronica Goldbarg, Vincent Goussot, Virginie Guibert, Erell Guillerm, Christophe Guy, Agnes Hardouin, Celine Heude, Claude Houdayer, Olivier Ingster, Caroline Jacquot-Sawka, Natalie Jones, Sophie Krieger, Sofiane Lacoste, Hakima Lallaoui, Helene Larbre, Anthony Lauge, Gabrielle Le Guyadec, Marine Le Mentec, Caroline Lecerf, Jessica Le Gall, Berengere Legendre, Clementine Legrand, Angelina Legros, Sophie Lejeune, Rosette Lidereau, Norbert Lignon, Jean-Marc Limacher, Doriane Livon, Sarab Lizard, Michel Longy, Alain Lortholary, Pierre Macquere, Audrey Mailliez, Sarah Malsa, Henri Margot, Veronique Mari, Christine Maugard, Cindy Meira, Julie Menjard, Diane Moliere, Virginie Moncoutier, Jessica Moretta-Serra, Etienne Muller, Zoe Neviere, Thien-vu Nguyen Minh Tuan, Tetsuro Noguchi, Catherine Nogues, Florine Oca, Cornel Popovici, Fabienne Prieur, Sabine Raad, Jean-Marc Rey, Agathe Ricou, Lucie Salle, Claire Saule, Nicolas Sevenet, Fatoumata Simaga, Hagay Sobol, Voreak Suybeng, Isabelle Tennevet, Henrique Tenreiro, Julie Tinat, Christine Toulas, Isabelle Turbiez, Nancy Uhrhammer, Pierre Vande Perre, Dominique Vaur, Laurence Venat, Nicolas Viellard, Marie-Charlotte Villy, Mathilde Warcoin, Alice Yvard, Helene Zattara, Olivier Caron, Christine Lasset, Audrey Remenieras, Nadia Boutry-Kryza, Laurent Castera, Dominique Stoppa-Lyonnet
Summary: Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance. Only pathogenic or likely pathogenic variants can guide breast and ovarian cancer prevention measures and treatment. The ongoing French national COVAR study aims to classify BRCA1/2 VUSs using a multifactorial model.
AMERICAN JOURNAL OF HUMAN GENETICS
(2021)
Article
Oncology
Anne Bredart, Antoine De Pauw, Amelie Anota, Anja Tuchler, Julia Dick, Anita Muller, Jean-Luc Kop, Kerstin Rhiem, Rita Schmutzler, Peter Devilee, Dominique Stoppa-Lyonnet, Sylvie Dolbeault
Summary: The study found that female relatives were more likely to perceive a lack of information on non-genetic risk factors compared to genetic risk factors, and expressed a desire for more information. Higher education level was associated with lower perceived information on genetic risk factors, while younger age and lower engagement coping were related to lower perceived information on non-genetic risk factors.
Article
Genetics & Heredity
Molka Sebai, David Tulasne, Sandrine M. Caputo, Virginie Verkarre, Marie Fernandes, Celia Guerin, Fanny Reinhart, Severine Adams, Christine Maugard, Olivier Caron, Marine Guillaud-Bataille, Pascaline Berthet, Yves-Jean Bignon, Brigitte Bressac-de Paillerets, Nelly Burnichon, Jean Chiesa, Sophie Giraud, Sophie Lejeune, Jean-Marc Limacher, Antoine de Pauw, Dominique Stoppa-Lyonnet, Helene Zattara-Cannoni, Sophie Deveaux, Rosette Lidereau, Stephane Richard, Etienne Rouleau
Summary: Hereditary papillary renal cell carcinoma is a rare inherited renal cancer syndrome associated with activating germline pathogenic variants of the MET gene. A study on a large French patient series showed a correlation between MET pathogenic variants and characteristic presentation of PRCC1 tumors, highlighting the importance of broadening screening efforts.
Article
Oncology
Shuai Li, Valentina Silvestri, Goska Leslie, Timothy R. Rebbeck, Susan L. Neuhausen, John L. Hopper, Henriette Roed Nielsen, Andrew Lee, Xin Yang, Lesley McGuffog, Michael T. Parsons, Irene L. Andrulis, Norbert Arnold, Muriel Belotti, Ake Borg, Bruno Buecher, Saundra S. Buys, Sandrine M. Caputo, Wendy K. Chung, Chrystelle Colas, Sarah Colonna, Jackie Cook, Mary B. Daly, Miguel de la Hoya, Antoine de Pauw, Helene Delhomelle, Jacqueline Eason, Christoph Engel, D. Gareth Evans, Ulrike Faust, Tanja N. Fehm, Florentia Fostira, George Fountzilas, Megan Frone, Vanesa Garcia-Barberan, Pilar Garre, Marion Gauthier-Villars, Andrea Gehrig, Gord Glendon, David E. Goldgar, Lisa Golmard, Mark H. Greene, Eric Hahnen, Ute Hamann, Helen Hanson, Tiara Hassan, Julia Hentschel, Judit Horvath, Louise Izatt, Ramunas Janavicius, Yue Jiao, Esther M. John, Beth Y. Karlan, Sung-Won Kim, Irene Konstantopoulou, Ava Kwong, Anthony Lauge, Jong Won Lee, Fabienne Lesueur, Noura Mebirouk, Alfons Meindl, Emmanuelle Mouret-Fourme, Hannah Musgrave, Joanne Ngeow Yuen Yie, Dieter Niederacher, Sue K. Park, Inge Sokilde Pedersen, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Muhammad U. Rashid, Florian Reichl, Julia Ritter, Andreas Rump, Marta Santamarina, Claire Saule, Gunnar Schmidt, Rita K. Schmutzler, Leigha Senter, Saba Shariff, Christian F. Singer, Melissa C. Southey, Dominique Stoppa-Lyonnet, Christian Sutter, Yen Tan, Soo Hwang Teo, Mary Beth Terry, Mads Thomassen, Marc Tischkowitz, Amanda E. Toland, Diana Torres, Ana Vega, Sebastian A. Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H. F. Weber, Drakoulis Yannoukakos, Amanda B. Spurdle, Douglas F. Easton, Georgia Chenevix-Trench, Laura Ottini, Antonis C. Antoniou
Summary: This study aims to provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.
JOURNAL OF CLINICAL ONCOLOGY
(2022)
Article
Genetics & Heredity
Anne Bredart, Antoine De Pauw, Anja Tuehler, Inge M. M. Lakeman, Amelie Anota, Kerstin Rhiem, Rita Schmutzler, Christi J. van Asperen, Peter Devilee, Dominique Stoppa-Lyonnet, Jean-Luc Kop, Sylvie Dolbeault
Summary: Counseling for familial breast cancer focuses on communicating gene test results, but risk prediction models have become more complex by including non-genetic risk factors and polygenic risk scores. This study found that genetic clinicians appear confident with comprehensive risk models, which seem to only affect perceptions of older counselees.
Article
Biochemistry & Molecular Biology
Anne Bredart, Jean-Luc Kop, Anja Tuchler, Antoine De Pauw, Alejandra Cano, Julia Dick, Kerstin Rhiem, Peter Devilee, Rita Schmutzler, Dominique Stoppa-Lyonnet, Sylvie Dolbeault
Summary: This study examined how often genetic clinicians correctly identify psychosocial difficulties in women at high breast cancer risk and found that clinicians generally underestimated these difficulties. Counselees' distress levels remained stable throughout the counseling process, regardless of the accuracy of clinicians' assessments and the genetic test result disclosure. Psychological referral was more frequently needed for difficulties in the emotions domain.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Genetics & Heredity
Andrew Lee, Nasim Mavaddat, Alex P. Cunningham, Tim Carver, Stephanie Archer, Fiona M. Walter, Marc Tischkowitz, Jonathan Roberts, Juliet Usher-Smith, Jacques Simard, Marjanka K. Schmidt, Peter Devilee, Vesna Zadnik, Hannes Jurgens, Emmanuelle Mouret-Fourme, Antoine De Pauw, Matti Rookus, Thea M. Mooij, Paul P. D. Pharoah, Douglas F. Easton, Antonis C. Antoniou
Summary: This study extended the BOADICEA models by incorporating the effects of pathogenic variants in recently established breast cancer and EOC susceptibility genes, as well as age-specific pathology distributions and continuous risk factors. The results showed that these extensions can provide more personalized cancer risk assessment for pathogenic variant carriers and inform better choices for screening, prevention, and risk factor adjustment.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Oncology
Yue Jiao, Therese Truong, Severine Eon-Marchais, Noura Mebirouk, Sandrine M. Caputo, Marie-Gabrielle Dondon, Mojgan Karimi, Dorothee Le Gal, Juana Beauvallet, Edith Le Floch, Claire Dandine-Roulland, Delphine Bacq-Daian, Robert Olaso, Juliette Albuisson, Severine Audebert-Bellanger, Pascaline Berthet, Valerie Bonadona, Bruno Buecher, Olivier Caron, Mathias Cavaille, Jean Chiesa, Chrystelle Colas, Marie-Agnes Collonge-Rame, Isabelle Coupier, Capucine Delnatte, Antoine De Pauw, Helene Dreyfus, Sandra Fert-Ferrer, Marion Gauthier-Villars, Paul Gesta, Sophie Giraud, Laurence Gladieff, Lisa Golmard, Christine Lasset, Sophie Lejeune-Dumoulin, Melanie Leone, Jean-Marc Limacher, Alain Lortholary, Elisabeth Luporsi, Veronique Mari, Christine M. Maugard, Isabelle Mortemousque, Emmanuelle Mouret-Fourme, Sophie Nambot, Catherine Nogues, Cornel Popovici, Fabienne Prieur, Pascal Pujol, Nicolas Sevenet, Hagay Sobol, Christine Toulas, Nancy Uhrhammer, Dominique Vaur, Laurence Venat, Anne Boland-Auge, Pascal Guenel, Jean-Francois Deleuze, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
Summary: The three breast cancer polygenic risk scores (PRS) were associated with breast cancer risk in French women, but the predictive performance varied among different populations. The PRS were useful for women with a strong family history and no BRCA1/2 pathogenic variant, as well as those carrying a predicted pathogenic variant in a moderate-risk gene (ATM, CHEK2 or PALB2). Further research on the application of these scores in different populations is warranted.
EUROPEAN JOURNAL OF CANCER
(2023)
Article
Genetics & Heredity
Mathias Schwartz, Virginie Moncoutier, Adrien Peytral, Jessica Le Gall, Voreak Suybeng, Melanie Pages, Julien Masliah-Planchon, Olfa Trabelsi-Grati, Samia Melaabi, Celine Callens, Ivan Bieche, Helene Delhomelle, Antoine De Pauw, Claire Saule, Emmanuelle Mouret-Fourme, Marion Gauthier-Villars, Bruno Buecher, Chrystelle Colas, Dominique Stoppa-Lyonnet, Lisa Golmard
Summary: Multigene panel sequencing is used to diagnose hereditary predispositions in breast or ovarian cancer patients, while BRCA1/BRCA2 testing is for therapeutic purpose. However, tumor genomic instability creates challenges in accurately detecting germline pathogenic variants through tumor testing. Somatic copy number variants and variant allele frequency can mask or distort the detection of germline pathogenic variants.
Meeting Abstract
Biochemistry & Molecular Biology
Molka Sebai, Marie Fernandes, Sandrine M. Caputo, Virginie Verkarre, Fanny Reinhart, Severine Adams, Christine Maugard, Olivier Caron, Marine Guillaud-Bataille, Pascaline Berthet, Yves-Jean J. Bignon, Jean Chiesa, Thierry Frebourg, Sophie Giraud, Sophie Lejeune, Jean-Marc M. Limacher, Antoine de Pauw, Dominique Stoppa-Lyonnet, Helene Zattara-Cannoni, Sophie Deveaux, Rosette Lidereau, Stephane Richard, David Tulasne, Etienne Rouleau
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Molka Sebai, David Tulasne, Sandrine M. Caputo, Virginie Verkarre, Marie Fernandes, Fanny Reinhart, Severine Adams, Christine Maugard, Olivier Caron, Marine Guillaud-Bataille, Pascaline Berthet, Yves-Jean J. Bignon, Jean Chiesa, Thierry Frebourg, Sophie Giraud, Sophie Lejeune, Jean-Marc M. Limacher, Antoine de Pauw, Dominique Stoppa-Lyonnet, Helene Zattara-Cannoni, Sophie Deveaux, Rosette Lidereau, Stephane Richard, Etienne Rouleau
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Oncology
Zoe Neviere, Elodie Coquan, Pierre-Emmanuel Brachet, Emeline Meriaux, Isabelle Bonnet, Sophie Krieger, Laurent Castera, Dominique Vaur, Flavie Boulouard, Alexandra Leconte, Justine Lequesne, Anais Lelaidier, Agathe Ricou, Florence Joly
Summary: This study aimed to evaluate the relationship between somatic DNA damage repair gene mutations and the response of mCRPC patients to standard therapies. The results showed that mCRPC patients with BRCA1/2 and ATM mutations had a longer response to standard therapies.
