Article
Rheumatology
Rangi Kandane-Rathnayake, Worawit Louthrenoo, Vera Golder, Shue-Fen Luo, Yeong-Jian J. Wu, Aisha Lateef, Jiacai Cho, Zhanguo Li, Yuan An, Laniyati Hamijoyo, Sandra Navarra, Leonid Zamora, Yasuhiro Katsumata, Masayoshi Harigai, Sargunan Sockalingam, Madelynn Chan, Yi-Hsing Chen, Sean O'Neill, Fiona Goldblatt, Yanjie Hao, Zhuoli Zhang, Jun Kikuchi, Tsutomu Takeuchi, Chak Sing Lau, Mandana Nikpour, Eric Morand, Alberta Hoi
Summary: The study examined the prevalence and associations of leucopenia (lymphopenia and neutropenia) in a multinational SLE cohort. It found that lymphopenia was associated with disease activity, serology, and certain medications, while neutropenia was negatively associated with methotrexate and ciclosporin use. Both lymphopenia and neutropenia should be considered independently in SLE studies.
Article
Gastroenterology & Hepatology
Mukesh Kumar Ranjan, Sudheer Kumar Vuyyuru, Bhaskar Kante, Peeyush Kumar, Sandeep K. Mundhra, Rithvik Golla, Raju Sharma, Peush Sahni, Prasenjit Das, Govind Makharia, Saurabh Kedia, Vineet Ahuja
Summary: Approximately 50% of patients with IBD in remission would relapse after 5 years of thiopurine withdrawal. Male sex and shorter treatment duration predict relapse.
INTERNATIONAL JOURNAL OF COLORECTAL DISEASE
(2022)
Article
Gastroenterology & Hepatology
Julien Kirchgesner, Rishi J. Desai, Maria C. Schneeweiss, Laurent Beaugerie, Sebastian Schneeweiss, Seoyoung C. Kim
Summary: Combination therapy with vedolizumab and thiopurines is associated with a lower risk of treatment failure compared to vedolizumab monotherapy in patients with CD, but the effect is less pronounced in UC.
Article
Gastroenterology & Hepatology
Uma Mahadevan, Millie D. Long, Sunanda Kane, Abhik Roy, Marla C. Dubinsky, Bruce E. Sands, Russell D. Cohen, Christina D. Chambers, William J. Sandborn
Summary: The study found that exposure to biologic, thiopurine, or combination therapy during pregnancy did not increase adverse maternal or fetal outcomes, and these treatments can be continued throughout pregnancy for women with IBD to maintain disease control.
Article
Gastroenterology & Hepatology
Paula Sousa, Paula Ministro, Alessandro Armuzzi, Axel Dignass, Marte Lie Hoivik, Manuel Barreiro-de Acosta, Stephan Vavricka, Rogerio Saad-Hossne, Paulo Gustavo Kotze, Laurent Peyrin-Biroulet, Fernando Magro
Summary: Majority of surveyed IBD physicians use thiopurines for treating CD and UC, considering them to have good safety profile. Despite emerging treatments, most physicians believe that thiopurines will remain an important part of the treatment algorithm for CD and UC.
DIGESTIVE AND LIVER DISEASE
(2021)
Article
Gastroenterology & Hepatology
Mukesh Kumar Ranjan, Bhaskar Kante, Sudheer Kumar Vuyyuru, Peeyush Kumar, Sandeep K. Mundhra, Rithvik Golla, Raju Sharma, Peush Sahni, Prasenjit Das, Govind Makharia, Saurabh Kedia, Vineet Ahuja
Summary: This study retrospectively evaluated the long-term safety and efficacy of thiopurines in IBD patients in northern India, showing minimal risk of developing lymphoma or non-melanoma skin cancer.
JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Review
Pharmacology & Pharmacy
Keiichi Tominaga, Takeshi Sugaya, Takanao Tanaka, Mimari Kanazawa, Makoto Iijima, Atsushi Irisawa
Summary: Thiopurines are medications used to treat inflammatory bowel diseases, particularly ulcerative colitis, with the potential to alleviate symptoms and maintain long-term remission. Careful monitoring is needed for adverse events associated with long-term use, while these drugs also play a critical role in controlling immunogenicity and predicting serious adverse events. However, the consequences of thiopurine withdrawal remain uncertain and further research is required to address this clinical question.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Pharmacology & Pharmacy
Anuraag Jena, Chhagan L. Birda, Arup Choudhury, Vishal Sharma
Summary: Personalized testing-based initial thiopurine dosing is effective in preventing myelotoxicity compared to standard weight-based dosing.
EXPERT OPINION ON DRUG SAFETY
(2023)
Article
Pharmacology & Pharmacy
Yang Zhang, Dandan Li, Heng Guo, Weina Wang, Xingang Li, Su Shen
Summary: This study indicated that the use of thiopurines in pregnant women with IBD does not increase the risk of congenital malformations, LBW, SGA, or spontaneous abortion, but it may be associated with an elevated risk of preterm birth when compared to IBD controls.
CURRENT PHARMACEUTICAL DESIGN
(2021)
Article
Gastroenterology & Hepatology
Line Riis Jolving, Pavithra Laxsen Anru, Jan Nielsen, Sonia Friedman, Bente Mertz Norgard
Summary: This nationwide cohort study found no increased risk of seven common chronic diseases or congenital malformations during childhood and adolescence after gestational exposure to thiopurines.
ALIMENTARY PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Medicine, General & Internal
Gerard Grau, Eduard Brunet-Mas, Laura Patricia Llovet, Patricia Pedregal, Albert Villoria, Luigi Melcarne, Anna Puy, Belen Garcia-Sague, Luis Enrique Frisancho, Maria Jose Ramirez-Lazaro, Sergio Lario, Xavier Calvet
Summary: Thiopurines are a safe and effective treatment for maintaining remission in inflammatory bowel disease, with minimal adverse effects, especially after the first few months of treatment. This study suggests that regular analytic follow-up may not be necessary after the initial period of treatment.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Gastroenterology & Hepatology
Mukesh Kumar Ranjan, Peeyush Kumar, Sudheer Kumar Vuyyuru, Bhaskar Kante, Sandeep K. Mundhra, Rithvik Golla, Shubi Virmani, Raju Sharma, Peush Sahni, Prasenjit Das, Mani Kalaivani, Ashish Datt Upadhyay, Govind Makharia, Saurabh Kedia, Vineet Ahuja
Summary: Thiopurines have sustained long-term effectiveness in the treatment of inflammatory bowel disease, and there is no significant difference in disease outcome between early and late initiation.
JOURNAL OF CROHNS & COLITIS
(2023)
Article
Gastroenterology & Hepatology
Laura E. Targownik, Charles N. Bernstein, Eric Benchimol, Gilaad G. Kaplan, Harminder Singh, Aruni Tennakoon, Zoann Nugent, Stephanie B. Coward, M. Ellen Kuenzig, Sanjay K. Murthy
Summary: Over the past two decades, the use of corticosteroids has decreased in both Crohn's disease and ulcerative colitis patients, with a more pronounced decline seen after 2007 in Crohn's disease. Potential reasons include the introduction and increasing use of biologic therapy for Crohn's disease and greater awareness of corticosteroid-related adverse events in IBD.
AMERICAN JOURNAL OF GASTROENTEROLOGY
(2021)
Article
Gastroenterology & Hepatology
Martina Crepaldi, Daria Maniero, Alessandro Massano, Margherita Pavanato, Brigida Barberio, Edoardo Vincenzo Savarino, Fabiana Zingone
Summary: There is no consensus on the recommended duration of and optimal time to stop azathioprine (AZA) therapy in inflammatory bowel disease (IBD). This study analyzed data from IBD patients who discontinued AZA therapy and found that the timing of cessation and stopping point can affect the risk of disease relapse.
WORLD JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Pediatrics
Angeliki Pappa, Julia Muhrer, Patricia Gast, Sudheendra Hebbar Subramanyam, Kim Ohl, Moritz Muschaweck, Norbert Wagner, Tobias Wenzl, Klaus Tenbrock
Summary: This study found that CD4+ memory T cells were increased and correlated with disease activity in pediatric inflammatory bowel disease (IBD) patients. In addition, NK cells were decreased, especially in patients treated with azathioprine. Monitoring these two cellular populations may serve as biomarkers for therapy control in pediatric IBD.
FRONTIERS IN PEDIATRICS
(2023)
Article
Oncology
Elke M. van Veen, D. Gareth Evans, Elaine F. Harkness, Helen J. Byers, Jamie M. Ellingford, Emma R. Woodward, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith
Summary: The study found that in women with lobular breast cancer, pathogenic germline variants in genes other than BRCA1/2, such as ATM, also significantly increase the risk of the disease. Extended panel genetic testing can help improve early risk identification and intervention.
Article
Genetics & Heredity
D. Gareth Evans, Elke Maria van Veen, Helen J. Byers, Sarah J. Evans, George J. Burghel, Emma Roisin Woodward, Elaine F. Harkness, Diana M. Eccles, Stephanie L. Greville-Haygate, Jamie M. Ellingford, Naomi L. Bowers, Marta Pereira, Andrew J. Wallace, Sasha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam Jane Smith
Summary: The study shows that the rates of BRCA1, BRCA2, and TP53 PVs are high in very early onset breast cancer cases. Testing of additional breast cancer-associated genes did not provide significant benefits. BRCA1/2 PVs were more common in women aged 26-30 years compared to younger women, and the younger age group had rates similar to other study cohorts.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Genetics & Heredity
Leslie Patricia Molina-Ramirez, Claire Kyle, Jamie M. Ellingford, Ronnie Wright, Algy Taylor, Sanjeev S. Bhaskar, Christopher Campbell, Harriet Jackson, Adele Fairclough, Abigail Rousseau, George J. Burghel, Laura Dutton, Siddharth Banka, Tracy A. Briggs, Jill Clayton-Smith, Sofia Douzgou, Elizabeth A. Jones, Helen M. Kingston, Bronwyn Kerr, John Ealing, Suresh Somarathi, Kate E. Chandler, Helen M. Stuart, Emma M. M. Burkitt-Wright, William G. Newman, Iain A. Bruce, Graeme C. Black, David Gokhale
Summary: The study investigated a clinician-led and phenotype-based approach for generating virtual gene panels for targeted CES analysis in patients with rare diseases in a single institution. Analysis of 400 consecutive cases showed that using personalized phenotype-driven virtual gene panels for variant analysis of CES is a cost-effective approach, maintaining diagnostic yield in clinical genomic sequencing.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pediatrics
John H. McDermott, Ajit Mahaveer, Rachel A. James, Nicola Booth, Mark Turner, Karen E. Harvey, Gino Miele, Glenda M. Beaman, Duncan C. Stoddard, Karen Tricker, Rachel J. Corry, Julia Garlick, Shaun Ainsworth, Thomas Beevers, Iain A. Bruce, Richard Body, Fiona Ulph, Rhona MacLeod, Peter L. Roberts, Paul M. Wilson, William G. Newman
Summary: This study developed a rapid point-of-care test (POCT) for detecting the m.1555A>G variant in neonates, which can guide antibiotic prescription and prevent aminoglycoside-induced ototoxicity. The findings showed that the test was integrated into clinical practice without disruption and could detect the variant within a practice-changing time frame.
Article
Physiology
Claire Hopton, Anke J. Tijsen, Leonid Maizels, Gil Arbel, Amira Gepstein, Nicola Bates, Benjamin Brown, Irit Huber, Susan J. Kimber, William G. Newman, Luigi Venetucci, Lior Gepstein
Summary: Heterozygous missense variants of the RYR2 gene can cause catecholaminergic polymorphic ventricular tachycardia. These variants enhance the function of the ryanodine receptors, increasing their sensitivity to calcium activation and leading to an increased propensity for calcium waves and delayed afterdepolarizations. A recent study detected a nonsense variant in RYR2 that resulted in unexplained cardiac arrest. By studying human induced pluripotent stem cells, the researchers found that carvedilol and nebivolol could potentially be effective treatments for the gain of function variants in RYR2.
PHYSIOLOGICAL REPORTS
(2022)
Article
Genetics & Heredity
F. Albalwy, J. H. McDermott, W. G. Newman, A. Brass, A. Davies
Summary: This study proposes a smart contract method called PGxChain based on a blockchain framework to address privacy issues in pharmacogenetics (PGx) data sharing. The findings suggest that blockchain technology has the potential to advance PGx data sharing.
PHARMACOGENOMICS JOURNAL
(2022)
Article
Dermatology
Yanshan Liu, Siddharth Banka, Yingzhi Huang, Jonathan Hardman-Smart, Derek Pye, Antonio Torrelo, Glenda M. Beaman, Marcelo G. Kazanietz, Martin J. Baker, Carlo Ferrazzano, Chenfu Shi, Gisela Orozco, Stephen Eyre, Michel van Geel, Anette Bygum, Judith Fischer, Zosia Miedzybrodzka, Faris Abuzahra, Albert Rubben, Sara Cuvertino, Jamie M. Ellingford, Miriam J. Smith, D. Gareth Evans, Lizelotte J. M. T. Weppner-Parren, Maurice A. M. van Steensel, Iskander H. Chaudhary, D. Chas Mangham, John T. Lear, Ralf Paus, Jorge Frank, William G. Newman, Xue Zhang
Summary: This study identifies small tandem noncoding intergenic duplications at chromosome Xq26.1 as the cause of Bazex-Dupre-Christol syndrome (BDCS). These duplications likely dysregulate the flanking centromeric gene ARHGAP36. Loss-of-function variants in ACTRT1 are unlikely to cause BDCS.
BRITISH JOURNAL OF DERMATOLOGY
(2022)
Article
Oncology
Isabelle Grootes, Renske Keeman, Fiona M. Blows, Roger L. Milne, Graham G. Giles, Anthony J. Swerdlow, Peter A. Fasching, Mustapha Abubakar, Irene L. Andrulis, Hoda Anton-Culver, Matthias W. Beckmann, Carl Blomqvist, Stig E. Bojesen, Manjeet K. Bolla, Bernardo Bonanni, Ignacio Briceno, Barbara Burwinkel, Nicola J. Camp, Jose E. Castelao, Ji-Yeob Choi, Christine L. Clarke, Fergus J. Couch, Angela Cox, Simon S. Cross, Kamila Czene, Peter Devilee, Thilo Dork, Alison M. Dunning, Miriam Dwek, Douglas F. Easton, Diana M. Eccles, Mikael Eriksson, Kristina Ernst, D. Gareth Evans, Jonine D. Figueroa, Visnja Fink, Giuseppe Floris, Stephen Fox, Marike Gabrielson, Manuela Gago-Dominguez, Jose A. Garcia-Saenz, Anna Gonzalez-Neira, Lothar Haeberle, Christopher A. Haiman, Per Hall, Ute Hamann, Elaine F. Harkness, Mikael Hartman, Alexander Hein, Maartje J. Hooning, Ming-Feng Hou, Sacha J. Howell, Hidemi Ito, Anna Jakubowska, Wolfgang Janni, Esther M. John, Audrey Jung, Daehee Kang, Vessela N. Kristensen, Ava Kwong, Diether Lambrechts, Jingmei Li, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Nur Aishah Mohd Taib, Anna Marie Mulligan, Heli Nevanlinna, William G. Newman, Kenneth Offit, Ana Osorio, Sue K. Park, Tjoung-Won Park-Simon, Alpa Patel, Nadege Presneau, Katri Pylkas, Brigitte Rack, Paolo Radice, Gad Rennert, Atocha Romero, Emmanouil Saloustros, Elinor J. Sawyer, Andreas Schneeweiss, Fabienne Schochter, Minouk J. Schoemaker, Chen-Yang Shen, Rana Shibli, Peter Sinn, William J. Tapper, Essa Tawfiq, Soo Hwang Teo, Lauren R. Teras, Diana Torres, Celine M. Vachon, Carolien H. M. van Deurzen, Camilla Wendt, Justin A. Williams, Robert Winqvist, Mark Elwood, Marjanka K. Schmidt, Paul D. P. Pharoah
Summary: Incorporating the prognostic effect of progesterone receptor (PR) status into PREDICT Breast has resulted in improved model performance and more accurate treatment benefit predictions for individual patients, as shown by a study involving European and New Zealand breast cancer patients.
EUROPEAN JOURNAL OF CANCER
(2022)
Review
Medicine, General & Internal
John H. McDermott, Stuart Wright, Videha Sharma, William G. G. Newman, Katherine Payne, Paul Wilson
Summary: This review examines the barriers and facilitators of pre-emptive pharmacogenetic testing programs in healthcare organizations. Through data synthesis using the CFIR, it was found that these programs varied in design and scale. Positive institutional culture, leadership engagement, stakeholder involvement, and the use of clinical champions were identified as facilitators, while clinician self-efficacy, lack of stakeholder knowledge, and intervention costs were commonly cited barriers.
FRONTIERS IN MEDICINE
(2022)
Article
Genetics & Heredity
Shalini S. Nayak, Robert Harkness, Anju Shukla, Siddharth Banka, William G. Newman, Katta M. Girisha
Summary: Urorectal septum malformation sequence (URSMS) is a spectrum of anomalies involving the urogenital system, hindgut, and perineum. This study analyzed 12 cases of URSMS in fetuses and found that it often coexists with malformations in other systems.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Gisella Figlioli, Amandine Billaud, Thomas U. Ahearn, Natalia N. Antonenkova, Heiko Becher, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Marinus J. Blok, Natalia Bogdanova, Bernardo Bonanni, Barbara Burwinkel, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Stephen J. Chanock, Kamila Czene, Peter Devilee, Thilo Doerk, Christoph Engel, Mikael Eriksson, Peter A. Fasching, Jonine D. Figueroa, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Anna Gonzalez-Neira, Felix Grassmann, Pascal Guenel, Melanie Gundert, Andreas Hadjisavvas, Eric Hahnen, Per Hall, Ute Hamann, Patricia A. Harrington, Wei He, Peter Hillemanns, Antoinette Hollestelle, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, Keith Humphreys, Agnes Jager, Anna Jakubowska, Elza K. Khusnutdinova, Yon-Dschun Ko, Vessela N. Kristensen, Annika Lindblom, Jolanta Lissowska, Jan Lubinski, Arto Mannermaa, Siranoush Manoukian, Sara Margolin, Dimitrios Mavroudis, William G. Newman, Nadia Obi, Mihalis Panayiotidis, Muhammad U. Rashid, Valerie Rhenius, Matti A. Rookus, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Reijo Sironen, Melissa C. Southey, Maija Suvanto, Rob A. E. M. Tollenaar, Ian Tomlinson, Therese Truong, Lizet E. van der Kolk, Elke M. van Veen, Barbara Wappenschmidt, Xiaohong R. Yang, Manjeet K. Bolla, Joe Dennis, Alison M. Dunning, Douglas F. Easton, Michael Lush, Kyriaki Michailidou, Paul D. P. Pharoah, Qin Wang, Muriel A. Adank, Marjanka K. Schmidt, Irene L. Andrulis, Jenny Chang-Claude, Heli Nevanlinna, Georgia Chenevix-Trench, D. Gareth Evans, Roger L. Milne, Paolo Radice, Paolo Peterlongo
Summary: Evidence from the BRIDGES study suggests that germline protein truncating variants (PTVs) in FANCM are associated with increased risk of ER-negative and triple-negative breast cancer (TNBC), particularly for those with a family history. This study further investigates the association between FANCM missense variants (MVs) and breast cancer risk using the BRIDGES study, analyzing a total of 689 MVs. The results indicate that FANCM MVs may be low/moderate risk factors for ER-negative and TNBC subtypes of breast cancer.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
D. Gareth Evans, Siva Sithambaram, Elke Maria van Veen, George J. Burghel, Helene Schlecht, Elaine F. Harkness, Helen Byers, Jamie M. Ellingford, Ashu Gandhi, Sacha J. Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G. Newman, Miriam Jane Smith, Emma Roisin Woodward
Summary: This study aimed to investigate the frequency of germline pathogenic variants (PVs) in women with ductal carcinoma in situ (DCIS) and grade 1 invasive breast cancer (G1BC). The results showed that DCIS was more likely to be associated with both BRCA1/2 and non-BRCA1/2 PVs than G1BC. Extended panel testing is recommended for young-onset DCIS where PV detection rates are highest.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Stefanie H. Mueller, Alvina G. Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K. Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U. Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Natalia N. Antonenkova, Volker Arndt, Kristan J. Aronson, Annelie Augustinsson, Thais Baert, Laura E. Beane Freeman, Matthias W. Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia Bogdanova, Stig E. Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y. Brucker, Saundra S. Buys, Jose E. Castelao, Tsun L. Chan, Jenny Chang-Claude, Stephen J. Chanock, Ji-Yeob Choi, Wendy K. Chung, Sarah Colonna, Sten Cornelissen, Fergus J. Couch, Kamila Czene, Mary B. Daly, Peter Devilee, Thilo Dork, Laure Dossus, Miriam Dwek, Diana M. Eccles, Arif B. Ekici, A. Heather Eliassen, Christoph Engel, D. Gareth Evans, Peter A. Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat Garcia-Closas, Jose A. Garcia-Saenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guenel, Melanie Gundert, Lothar Haeberle, Eric Hahnen, Christopher A. Haiman, Niclas Hakansson, Per Hall, Elaine F. Harkness, Patricia A. Harrington, Jaana M. Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J. Hooning, Reiner Hoppe, John L. Hopper, Richard S. Houlston, Anthony Howell, David J. Hunter, Dezheng Huo, Abctb Investigators, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M. John, Michael E. Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K. Khusnutdinova, Sung-Won Kim, Cari M. Kitahara, Stella Koutros, Peter Kraft, Vessela N. Kristensen, Katerina Kubelka-Sabit, Allison W. Kurian, Ava Kwong, James Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A. Murphy, Heli Nevanlinna, William G. Newman, Dieter Niederacher, Katie M. O'Brien, Nadia Obi, Kenneth Offit, Olufunmilayo Olopade, Andrew F. Olshan, Hakan Olsson, Sue K. Park, Alpa Patel, Achal Patel, Charles M. Perou, Julian Peto, Paul D. P. Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U. Rashid, Gad Rennert, Atocha Romero, Kathryn J. Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P. Sandler, Elinor J. Sawyer, Marjanka K. Schmidt, Rita K. Schmutzler, Michael O. Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M. Tamimi, William J. Tapper, Jack A. Taylor, Soo Hwang Teo, Lauren R. Teras, Amanda E. Toland, Rob A. E. M. Tollenaar, Diana Torres, Gabriela Torres-Mejia, Melissa A. Troester, Therese Truong, Celine M. Vachon, Joseph Vijai, Clarice R. Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H. Wu, Taiki Yamaji, Xiaohong R. Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M. Dunning, Douglas F. Easton, Harry Hemingway, Ute Hamann, Karoline B. Kuchenbaecker
Summary: This study identified 14 genes associated with breast cancer using gene-based aggregation analysis, including two newly discovered genes FMNL3 and AC058822.1. Furthermore, associations with established candidate genes like ESR1 were found through the collaboration of multi-ancestral cohorts, highlighting the importance of diversifying study cohorts. These findings provide new insights into the development of breast cancer.
Article
Genetics & Heredity
D. Gareth Evans, George J. Burghel, Helene Schlecht, Elaine F. Harkness, Ashu Gandhi, Sacha J. Howell, Anthony Howell, Claire Forde, Fiona Lalloo, William G. Newman, Miriam Jane Smith, Emma Roisin Woodward
Summary: This study aimed to investigate the frequency of germline pathogenic variants (PVs) in women with bilateral breast cancer. BRCA1/2 and CHEK2 c.1100delC molecular analysis were conducted in 764 samples, and a multigene panel was performed in 156 samples. The detection rates of PVs were assessed according to age at first primary, Manchester Score, and breast pathology. The results showed high rates of detection of BRCA1 and BRCA2 PVs in triple negative and grade 3 ER+HER2- first primary diagnoses, respectively. The study also found that the ER status of the first primary strongly predicted the ER status of the second contralateral tumor in BRCA1/2 patients.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Hongjie Chen, Shaoqi Fan, Jennifer Stone, Deborah J. Thompson, Julie Douglas, Shuai Li, Christopher Scott, Manjeet K. Bolla, Qin Wang, Joe Dennis, Kyriaki Michailidou, Christopher Li, Ulrike Peters, John L. Hopper, Melissa C. Southey, Tu Nguyen-Dumont, Tuong L. Nguyen, Peter A. Fasching, Annika Behrens, Gemma Cadby, Rachel A. Murphy, Kristan Aronson, Anthony Howell, Susan Astley, Fergus Couch, Janet Olson, Roger L. Milne, Graham G. Giles, Christopher A. Haiman, Gertraud Maskarinec, Stacey Winham, Esther M. John, Allison Kurian, Heather Eliassen, Irene Andrulis, D. Gareth Evans, William G. Newman, Per Hall, Kamila Czene, Anthony Swerdlow, Michael Jones, Marina Pollan, Pablo Fernandez-Navarro, Daniel S. McConnell, Vessela N. Kristensen, Joseph H. Rothstein, Pei Wang, Laurel A. Habel, Weiva Sieh, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Gretchen L. Gierach, Rulla M. Tamimi, Celine M. Vachon, Sara Lindstrom
Summary: This study provides novel insights into the genetic background of mammographic density (MD) phenotypes and demonstrates their shared genetic basis with breast cancer.
BREAST CANCER RESEARCH
(2022)
