Article
Oncology
Oyeon Cho, Mison Chun, Suk-Joon Chang
Summary: Lymphopenia has implications for cancer progression, treatment effects, and immune capacity. The exponential slope alpha from absolute lymphocyte counts can potentially distinguish between aggressive and non-aggressive courses in cervical cancer patients.
Article
Oncology
Sherene Loi, Roberto Salgado, Sylvia Adams, Giancarlo Pruneri, Prudence A. Francis, Magali Lacroix-Triki, Heikki Joensuu, Maria Vittoria Dieci, Sunil Badve, Sandra Demaria, Robert Gray, Elisabetta Munzone, Damien Drubay, Jerome Lemonnier, Christos Sotiriou, Pirkko Liisa Kellokumpu-Lehtinen, Andrea Vingiani, Kathryn Gray, Fabrice Andre, Carsten Denkert, Martine Piccart, Elvire Roblin, Stefan Michiels
Summary: The importance of integrating biomarkers such as TILs into the TNM staging system for TNBC has been emphasized in the AJCC 8th Edition. Studies show that TILs can significantly influence the traditional pathological staging, suggesting that considering TILs in addition to stage can lead to better outcomes for TNBC patients.
Article
Oncology
Jing Xi, Bilal Hassan, Ruth G. N. Katumba, Karam Khaddour, Akshay Govindan, Jingqin Luo, Jiayi Huang, Jian L. Campian
Summary: This study suggests that ALC levels before or after treatment do not predict true disease progression or pseudoprogression in GBM patients. Patients with true progression had worse overall survival compared to those with pseudoprogression. A larger sample size including CD4 cell counts may be needed to evaluate the predictive value of peripheral blood biomarkers for pseudoprogression.
Article
Oncology
Joo-Heung Kim, Nak-Hoon Son, Jun-Sang Lee, Ji-Eun Mun, Jee-Ye Kim, Hyung-Seok Park, Seho Park, Seung-Il Kim, Byeong-Woo Park
Summary: While the prognosis of triple-negative breast cancer (TNBC) varies, identifying subgroups with particularly poor prognosis is crucial. This study aimed to investigate the association between changes in the neutrophil-to-lymphocyte ratio (NLR) during treatment and poor prognosis in TNBC patients. The findings suggest that an increase in NLR during treatment may indicate a higher risk of recurrence or death, highlighting the need for additional treatment modalities.
Article
Hematology
Souichi Shiratori, Hiroyuki Ohigashi, Takahide Ara, Atsushi Yasumoto, Hideki Goto, Masao Nakagawa, Junichi Sugita, Masahiro Onozawa, Kaoru Kahata, Tomoyuki Endo, Daigo Hashimoto, Takanori Teshima
Summary: High absolute lymphocyte counts (ALC) before the administration of antithymocyte globulin (ATG) were significantly associated with severe acute graft-versus-host disease (SC-aGVHD) in allogeneic peripheral blood stem cell transplantation (PBSCT), leading to higher non-relapse mortality (NRM) and worse survival rates.
ANNALS OF HEMATOLOGY
(2021)
Article
Multidisciplinary Sciences
Jake Womick, John Eckelkamp, Sam Luzzo, Sarah J. Ward, S. Glenn Baker, Alison Salamun, Laura A. King
Summary: The five studies examined the impact of exposure to authoritarian values on individuals' emotions and perceptions of life meaning. The results showed that egalitarian messages had a positive effect on mood, while authoritarian messages led to a stronger sense of life meaning.
Article
Oncology
Tamami Morisaki, Shinichiro Kashiwagi, Yuka Asano, Wataru Goto, Koji Takada, Sae Ishihara, Masatsune Shibutani, Hiroaki Tanaka, Kosei Hirakawa, Masaichi Ohira
Summary: The study found that patients with progression by preexisting disease (PPL) had better survival rates than those with progression by new metastases (PNM) in patients treated with eribulin. Additionally, breast cancer patients with ALC >= 1500/mu l were associated with less progression, particularly metastasis, and better prognosis. In addition, the biomarker high-ALC (ALC >= 1500/mu l) and PPL were particularly useful as prognostic markers following eribulin chemotherapy.
WORLD JOURNAL OF SURGICAL ONCOLOGY
(2021)
Article
Immunology
Jinguo Zhang, Hongwei Jin, Shuaikang Pan, Chaoqiang Han, Qingqing Sun, Xinghua Han
Summary: By investigating 422 TNBC samples, we identified two ICGs clusters and two ICGs-related gene clusters that were associated with different survival outcomes, biological roles, and immune cell infiltration levels. We established a quantification system, called IRS, to assess ICGs expression patterns and found that TNBC patients with lower IRS had increased immune cell infiltration, favorable clinical outcomes, and high sensitivity to ICIs therapy. Additionally, we developed a nomogram model combining clinicopathological variables to predict overall survival in TNBC. Genomic feature analysis showed that the high IRS group had an increased tumor mutation burden compared with the low IRS group.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Immunology
Xijie Dong, Chuntao Wang, Xinghua Liu, Xiangjun Bai, Zhanfei Li
Summary: Severe trauma disrupts immune homeostasis and leads to fluctuation in circulating immune-cell count. Study found that alterations in circulating immune-cell count within 7 days post-trauma are related to subsequent sepsis and mortality.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Geriatrics & Gerontology
Dongkai Li, Jiahui Zhang, Guangxu Bai, Jianwei Chen, Wei Cheng, Na Cui
Summary: In this study, higher lymphocyte and NK cell counts were found in senior patients with SAD, suggesting a potential predictive value of NK cell count for the occurrence of SAD in elderly patient cohorts.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Article
Medicine, Research & Experimental
Shogo Nakamoto, Tadahiko Shien, Mitsuya Itoh, Yutaka Yamamoto, Shozo Ohsumi, Seiji Yoshitomi, Hajime Hikino, Kazuya Miyoshi, Akifumi Notsu, Naruto Taira, Hiroyoshi Doihara, Masahiko Ikeda
Summary: This retrospective multicenter observational study demonstrates the clinical efficacy and safety of atezolizumab treatment in patients with advanced or metastatic TNBC. Additionally, systemic immunity markers, including their dynamic changes, were found to be associated with clinical outcomes of atezolizumab treatment.
CLINICAL AND EXPERIMENTAL MEDICINE
(2023)
Article
Oncology
Chengcheng Qian, Renjie Cai, Wenying Zhang, Jiongyi Wang, Xiaohua Hu, Yanjie Zhang, Bin Jiang, Haihua Yuan, Feng Liu
Summary: High NLR (>3.21) and high CTCs level (>1) were associated with shorter DFS and OS, with patients having both higher NLR and higher CTCs counts showing the shortest DFS and OS. This suggests that combining NLR and CTCs counts may serve as a reliable predictor for poor prognosis in patients with gastrointestinal cancer.
FRONTIERS IN ONCOLOGY
(2021)
Article
Cell Biology
Fangfang Duan, Muyi Zhong, Jinhui Ye, Li Wang, Chang Jiang, Zhongyu Yuan, Xiwen Bi, Jiajia Huang
Summary: This study explored the prognostic value of a novel comprehensive biomarker, the iron-monocyte-to-lymphocyte ratio (IronMLR) score, in patients with early-stage triple-negative breast cancer (TNBC). The study found that the IronMLR score was an independent predictor of disease-free survival (DFS) and overall survival (OS) in early-stage TNBC patients. A prognostic nomogram integrating the IronMLR score, T stage, and N stage was established to improve individualized survival predictions.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Prarthna V. Bhardwaj, Yue Wang, Elizabeth Brunk, Philip M. Spanheimer, Yara G. Abdou
Summary: Triple-negative breast cancer (TNBC) is an aggressive subtype of breast cancer with heterogeneous characteristics. Neoadjuvant therapy (NAT) is the preferred treatment for early-stage TNBC as it downstages tumors, monitors treatment response, and provides important prognostic information. The use of immune checkpoint inhibitors and targeted agents has revolutionized TNBC treatment, but identifying the subgroups that benefit most from these therapies is still under investigation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Immunology
Zihao Chen, Maoli Wang, Rudy Leon De Wilde, Ruifa Feng, Mingqiang Su, Luz Angela Torres-de la Roche, Wenjie Shi
Summary: This study identified two novel immune subtypes among TNBC patients, with one subtype showing higher immune scores, levels of immune cells, and better prognosis for immunotherapy. A machine learning model based on 11 hub genes was established to predict immune subtype of TNBC patients requiring ICB, leading to the development of a free visual online web server to assist in selecting candidates for ICB with a higher response rate and better prognosis.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Clinical Neurology
Matt Lechner, Yoko Takahashi, Mario Turri-Zanoni, Marco Ferrari, Jacklyn Liu, Nicholas Counsell, Davide Mattavelli, Vittorio Rampinelli, William Vermi, Davide Lombardi, Rami Saade, Ki Wan Park, Volker H. Schartinger, Alessandro Franchi, Carla Facco, Fausto Sessa, Simonetta Battocchio, Tim R. Fenton, Francis M. Vaz, Paul O'Flynn, David Howard, Paul Stimpson, Simon Wang, S. Alam Hannan, Samit Unadkat, Jonathan Hughes, Raghav Dwivedi, Cillian T. Forde, Premjit Randhawa, Simon Gane, Jonathan Joseph, Peter J. Andrews, Manas Dave, Jason C. Fleming, David Thomson, Tianyu Zhu, Andrew Teschendorff, Gary Royle, Christopher Steele, Joaquin E. Jimenez, Jan Laco, Eric W. Wang, Carl Snyderman, Peter D. Lacy, Robbie Woods, James P. O'Neill, Anirudh Saraswathula, Raman Preet Kaur, Tianna Zhao, Murugappan Ramanathan, Gary L. Gallia, Nyall R. London, Quynh-Thu Le, Robert B. West, Zara M. Patel, Jayakar V. Nayak, Peter H. Hwang, Mario Hermsen, Jose Llorente, Fabio Facchetti, Piero Nicolai, Paolo Bossi, Paolo Castelnuovo, Amrita Jay, Dawn Carnell, Martin D. Forster, Diana M. Bell, Valerie J. Lund, Ehab Y. Hanna
Summary: This study retrospectively analyzed clinical data from 505 cases of sinonasal mucosal melanoma (SNMM). It found that further stratifying the T3 stage by sinus involvement has a high predictive value for prognosis. Adjuvant radiotherapy can improve survival rates, and immune checkpoint inhibitors show potential benefits for the treatment of recurrent, persistent, or metastatic disease.
JOURNAL OF NEUROLOGICAL SURGERY PART B-SKULL BASE
(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
Oncology
Erik Eckhert, Olivia Lansinger, Victor Ritter, Mina Liu, Summer Han, Lidia Schapira, Esther M. M. John, Scarlett Gomez, George Sledge, Allison W. W. Kurian
Summary: Most hospitals and cancer registries do not collect data on sexual orientation and gender identity, leading to a lack of knowledge about the quality of breast cancer treatment for patients from sex and gender minority (SGM) groups. A retrospective study found that SGM patients with breast cancer experienced delayed diagnosis, higher recurrence rates, and a higher likelihood of refusing recommended treatment compared to cisgender heterosexual patients.
Editorial Material
Oncology
Sunil S. Badve
Summary: This article discusses the use of artificial intelligence methods for analyzing pathology slides. The authors describe a reliable second reader system that can differentiate in situ and advanced invasive carcinomas from non-neoplastic lesions of the breast.
Review
Obstetrics & Gynecology
Denise R. Nebgen, Susan M. Domchek, Joanne Kotsopoulos, Joanne A. de Hullu, Emma J. Crosbie, Vincent Singh Paramanandam, Monique Brood van Zanten, Barbara M. Norquist, Theresa Guise, Serge Rozenberg, Allison W. Kurian, Holly J. Pederson, Nese Yuksel, Rachel Michaelson-Cohen, Sharon L. Bober, Agnaldo Lopes da Silva, Nora Johansen, F. Guidozzi, D. Gareth Evans, Usha Menon, Sheryl A. Kingsberg, C. Bethan Powell, Giovanni Grandi, Claudia Marchetti, Michelle Jacobson, Donal J. Brennan, Martha Hickey
Summary: Women with high inherited risk of ovarian cancer can undergo risk-reducing salpingo-oophorectomy (RRSO) between the ages of 35 and 45. While RRSO can save lives, it can also cause symptoms that negatively impact quality of life and long-term health. This scoping review explores the effects of RRSO on short- and long-term health and provides evidence-based international consensus recommendations for comprehensive care.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2023)
Article
Oncology
Mary B. Daly, Eric Rosenthal, Shelly Cummings, Ryan Bernhisel, John Kidd, Elisha Hughes, Alexander Gutin, Stephanie Meek, Thomas P. Slavin, Allison W. Kurian
Summary: Young age at breast cancer diagnosis and family history of breast cancer are strongly associated with pathogenic variants in BRCA1 and BRCA2 genes, but limited evidence exists for associations with ATM, CHEK2, and PALB2 genes.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Oncology
Esther M. John, Jocelyn Koo, Sue A. Ingles, Allison W. Kurian, Lisa M. Hines
Summary: A case-control study in the San Francisco Bay Area found that migration and birthplace are associated with breast cancer risk in Asian American women. Among the younger birth cohort, foreign-born Chinese women had a two-fold increased risk of breast cancer. Other migration characteristics, such as age of migration and length of U.S. residence, were also associated with increased risk. However, the education level did not fully explain these associations.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2023)
Article
Genetics & Heredity
Elyssa Zukin, Julie O. Culver, Yuxi Liu, Yunqi Yang, Charite N. Ricker, Rachel Hodan, Duveen Sturgeon, Kerry Kingham, Nicolette M. Chun, Courtney Rowe-Teeter, Kathryn Singh, Jason A. Zell, Uri Ladabaum, Kevin J. McDonnell, James M. Ford, Giovanni Parmigiani, Danielle Braun, Allison W. Kurian, Stephen B. Gruber, Gregory E. Idos
Summary: The clinical impact of conflicting classifications of genetic variants issued by commercial laboratories was studied. Results from 2000 patients undergoing genetic testing were analyzed, and discrepancies between laboratory-provided classifications and other laboratories were identified. Only 36% of patients with conflicting classifications had a documented discussion by a provider. The study highlights the frequency of interpretation discrepancies and the importance of clinician awareness.
GENETICS IN MEDICINE
(2023)
Article
Endocrinology & Metabolism
Ryan P. Brady, Elizabeth T. Jensen, Joseph Rigdon, Nancy A. Crimmins, Daniel Mallon, Lawrence M. Dolan, Giuseppina Imperatore, Anna R. Kahkoska, Amy K. Mottl, Ann Honor, David J. Pettitt, Lina Merjaneh, Dana Dabelea, Amy S. Shah
Summary: Undiagnosed celiac disease is likely present in youth with type 1 diabetes, and potentially undiagnosed CD is associated with a higher risk of diabetic retinopathy. These findings indicate the importance of routine screening for CD in type 1 diabetes in youth.
PEDIATRIC DIABETES
(2023)
Article
Oncology
Steven J. Katz, Paul Abrahamse, Rachel Hodan, Allison W. Kurian, Aaron Rankin, Rachel S. Tocco, Sonia Rios-Ventura, Kevin C. Ward, Lawrence C. An
Summary: Cascade genetic testing in families with hereditary cancer syndromes can be achieved through an online platform that offers genetic risk education and low-cost testing to relatives.
JCO ONCOLOGY PRACTICE
(2023)
Article
Health Policy & Services
Joseph Rigdon, Brian Ostasiewski, Kamah Woelfel, Kimberly D. Wiseman, Tim Hetherington, Stephen Downs, Marc Kowalkowski
Summary: This study proposes a multi-step process for selecting comparators in the electronic medical record (EMR), providing a reproducible and efficient source of comparator data for observational studies.
LEARNING HEALTH SYSTEMS
(2023)
Article
Genetics & Heredity
Rachel Hodan, Kerry Kingham, Allison W. Kurian
Summary: We identified a recurrent mutation in six patients from five Assyrian families, characterized by NM_000059.3 (BRCA2) exon 3 deletion. This mutation is associated with a classic BRCA2-associated cancer, occurring in individuals with early-onset breast cancer, ovarian cancer, male breast cancer, and/or high-grade prostate cancer. The mutation, classified as pathogenic, has not been previously identified as a founder mutation in a specific population, making our findings significant.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Hagai Levi, Shai Carmi, Saharon Rosset, Rinat Yerushalmi, Aviad Zick, Tamar Yablonski-Peretz, Qin Wang, Manjeet K. Bolla, Joe Dennis, Kyriaki Michailidou, Michael Lush, Thomas Ahearn, Irene L. Andrulis, Hoda Anton-Culver, Antonis C. Antoniou, Volker Arndt, Annelie Augustinsson, Paivi Auvinen, Laura Beane Freeman, Matthias Beckmann, Sabine Behrens, Marina Bermisheva, Clara Bodelon, Natalia Bogdanova, Stig E. Bojesen, Hermann Brenner, Helen Byers, Nicola Camp, Jose Castelao, Jenny Chang-Claude, Maria-Dolores Chirlaque, Wendy Chung, Christine Clarke, Margriet J. Collee, Sarah Colonna, Fergus Couch, Angela Cox, Simon S. Cross, Kamila Czene, Mary Daly, Peter Devilee, Thilo Dork, Laure Dossus, Diana M. Eccles, A. Heather Eliassen, Mikael Eriksson, Gareth Evans, Peter Fasching, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat Garcia-Closas, Jose Angel Garcia-Saenz, Jeanine Genkinger, Graham G. Giles, Mark Goldberg, Pascal Guenel, Per Hall, Ute Hamann, Wei He, Peter Hillemanns, Antoinette Hollestelle, Reiner Hoppe, John Hopper, Simona Jakovchevska, Anna Jakubowska, Helena Jernstrom, Esther John, Nichola Johnson, Michael Jones, Joseph Vijai, Rudolf Kaaks, Elza Khusnutdinova, Cari Kitahara, Stella Koutros, Vessela Kristensen, Allison W. Kurian, James Lacey, Diether Lambrechts, Loic Le Marchand, Flavio Lejbkowicz, Annika Lindblom, Sibylle Loibl, Adriana Lori, Jan Lubinski, Arto Mannermaa, Mehdi Manoochehri, Dimitrios Mavroudis, Usha Menon, AnnaMarie Mulligan, Rachel Murphy, Ines Nevelsteen, William G. Newman, Nadia Obi, Katie O'Brien, Ken Offit, Andrew Olshan, Dijana Plaseska-Karanfilska, Janet Olson, Salvatore Panico, Tjoung-Won Park-Simon, Alpa Patel, Paolo Peterlongo, Brigitte Rack, Paolo Radice, Gad Rennert, Valerie Rhenius, Atocha Romero, Emmanouil Saloustros, Dale Sandler, Marjanka K. Schmidt, Lukas Schwentner, Mitul Shah, Priyanka Sharma, Jacques Simard, Melissa Southey, Jennifer Stone, William J. Tapper, Jack Taylor, Lauren Teras, Amanda E. Toland, Melissa Troester, Therese Truong, Lizet E. van der Kolk, Clarice Weinberg, Camilla Wendt, Xiaohong Rose Yang, Wei Zheng, Argyrios Ziogas, Alison M. Dunning, Paul Pharoah, Douglas F. Easton, Shay Ben-Sachar, Naama Elefant, Ron Shamir, Ran Elkon
Summary: This study examined the performance of European-based breast cancer (BC) polygenic risk score (PRS) models in Ashkenazi Jewish (AJ) women. The results showed that the European-based PRS models can identify AJ women with significantly increased BC risk, offering potential improvement in BC risk assessment for this population.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Oncology
Brandie Heald, Sara Pirzadeh-Miller, Rachel E. Ellsworth, Sarah M. Nielsen, Emily M. Russell, Peter Beitsch, Edward D. Esplin, Robert L. Nussbaum, Daniel E. Pineda-Alvarez, Allison W. Kurian, Heather Hampel
Summary: Current guidelines recommend single variant testing in relatives of cancer patients with known pathogenic or likely pathogenic germline variants. However, this approach may result in missed risk-reducing strategies in family members with pathogenic or likely pathogenic variants in other cancer predisposition genes. Cascade testing using multigene panels identified unexpected pathogenic or likely pathogenic germline variants in 6.2% of relatives, including those who were negative for the familial variant but positive for a variant in a different gene, as well as those who tested positive for the familial variant and had an additional variant in a different gene.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Medicine, General & Internal
Chloe C. Su, Julie T. Wu, Eunji Choi, Nathaniel J. Myall, Joel W. Neal, Allison W. Kurian, Henning Stehr, Douglas Wood, Solomon M. Henry, Leah M. Backhus, Ann N. Leung, Heather A. Wakelee, Summer S. Han
Summary: This study aimed to evaluate the impact of metastatic disease type on overall survival (OS) among patients with non-small cell lung cancer (NSCLC) and identify potential mechanisms underlying any survival difference.