Article
Oncology
Mark Robson
Summary: The Oncology Grand Rounds series provides clinical context for original reports published in the Journal, helping readers understand how to apply key study results to their own clinical practice through case presentations, review of literature, and suggested management approaches.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Oncology
Jennifer M. Mongiovi, Chi-Chen Hong, Gary R. Zirpoli, Thaer Khoury, Angela R. Omilian, Bo Qin, Elisa Bandera, Song Yao, Christine B. Ambrosone, Zhihong Gong
Summary: This study found that genetic variants of COX2 and ALOX genes are associated with breast cancer risk, with differential associations observed in subgroups defined by menopausal and ER status between White and Black women. This suggests potential differences in the etiology of breast cancer between different races and warrants further research.
FRONTIERS IN ONCOLOGY
(2021)
Article
Oncology
Chi Gao, Eric C. Polley, Steven N. Hart, Hongyan Huang, Chunling Hu, Rohan Gnanaolivu, Jenna Lilyquist, Nicholas J. Boddicker, Jie Na, Christine B. Ambrosone, Paul L. Auer, Leslie Bernstein, Elizabeth S. Burnside, A. Heather Eliassen, Mia M. Gaudet, Christopher Haiman, David J. Hunter, Eric J. Jacobs, Esther M. John, Sara Lindstrom, Huiyan Ma, Susan L. Neuhausen, Polly A. Newcomb, Katie M. O'Brien, Janet E. Olson, Irene M. Ong, Alpa Patel, Julie R. Palmer, Dale P. Sandler, Rulla Tamimi, Jack A. Taylor, Lauren R. Teras, Amy Trentham-Dietz, Celine M. Vachon, Clarice R. Weinberg, Song Yao, Jeffrey N. Weitzel, David E. Goldgar, Susan M. Domchek, Katherine L. Nathanson, Fergus J. Couch, Peter Kraft
Summary: This study evaluated the joint association of pathogenic variants in breast cancer predisposition genes and polygenic risk scores with breast cancer in the general population. The findings suggest that polygenic risk scores facilitate personalized breast cancer risk assessment among carriers of pathogenic variants in predisposition genes.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Oncology
Sukh Makhnoon, Minxing Chen, Brooke Levin, Megan Ensinger, Kristin D. Mattie, Generosa Grana, Sanjay Shete, Banu K. Arun, Susan K. Peterson
Summary: This study found that women with variants of uncertain significance (VUS) were less likely to undergo annual breast MRI compared to pathogenic and likely pathogenic variants (P/LP), but had equivalent use of annual mammography. This provides important evidence for VUS-related breast surveillance.
Article
Oncology
Siddhartha Yadav, Chunling Hu, Katherine L. Nathanson, Jeffrey N. Weitzel, David E. Goldgar, Peter Kraft, Rohan D. Gnanaolivu, Jie Na, Hongyan Huang, Nicholas J. Boddicker, Nicole Larson, Chi Gao, Song Yao, Clarice Weinberg, Celine M. Vachon, Amy Trentham-Dietz, Jack A. Taylor, Dale R. Sandler, Alpa Patel, Julie R. Palmer, Janet E. Olson, Susan Neuhausen, Elena Martinez, Sara Lindstrom, James V. Lacey, Allison W. Kurian, Esther M. John, Christopher Haiman, Leslie Bernstein, Paul W. Auer, Hoda Anton-Culver, Christine B. Ambrosone, Rachid Karam, Elizabeth Chao, Amal Yussuf, Tina Pesaran, Jill S. Dolinsky, Steven N. Hart, Holly LaDuca, Eric C. Polley, Susan M. Domchek, Fergus J. Couch
Summary: The study found that ATM, BRCA2, CDH1, CHEK2, and PALB2 pathogenic variants are associated with an increased risk of ILC, while BRCA1 pathogenic variants are not. CDH1 pathogenic variants are significantly enriched in ILC, while BRCA1 pathogenic variants are substantially reduced.
JOURNAL OF CLINICAL ONCOLOGY
(2021)
Article
Oncology
Li Hu, Jie Sun, Zhongwu Li, Ziwei Qu, Yan Liu, Qiting Wan, Jiaming Liu, Xinyun Ding, Fan Zang, Juan Zhang, Lu Yao, Ye Xu, Yin Wang, Yuntao Xie
Summary: The prevalence and clinical relevance of pathogenic germline variants in MMR genes in Chinese breast cancer patients were investigated. MMR variant carriers had worse survival and some might benefit from immunotherapy.
Article
Oncology
Hiroko Kimura, Kei Mizuno, Masaki Shiota, Shintaro Narita, Naoki Terada, Naohiro Fujimoto, Keiji Ogura, Shotaro Hatano, Yusuke Iwasaki, Nozomi Hakozaki, Satoshi Ishitoya, Takayuki Sumiyoshi, Takayuki Goto, Takashi Kobayashi, Hidewaki Nakagawa, Toshiyuki Kamoto, Masatoshi Eto, Tomonori Habuchi, Osamu Ogawa, Yukihide Momozawa, Shusuke Akamatsu
Summary: Germline variants in BRCA1, BRCA2, PALB2, or ATM are independent prognostic factors for the short duration of response to hormonal therapy in advanced prostate cancer.
BRITISH JOURNAL OF CANCER
(2022)
Article
Oncology
Rinat Bernstein-Molho, Lee Galmor, Yael Laitman, Shlomo Segev, Eitan Friedman
Summary: This study analyzed genotyping results of 1764 Israeli individuals, showing a 4% yield of pathogenic variants in a healthy, unselected, multiethnic Jewish population, regardless of their family history or ethnicity. These findings suggest potential benefits of targeted genotyping for cancer susceptibility genes in broader Jewish populations in Israel.
Article
Oncology
Belle W. X. Lim, Na Li, Sakshi Mahale, Simone M. McInerny, Magnus Zethoven, Simone M. Rowley, Joanne Huynh, Theresa Wang, Jue Er Amanda Lee, Mia Friedman, Lisa Devereux, Rodney J. Scott, Erica K. Sloan, Paul A. James, Ian G. Campbell
Summary: This study found that BARD1 and RAD51D behave as classic BRCA-like predisposition genes with biallelic loss in breast cancer. In contrast to other breast cancer-related genes, CHEK2 gene lacks biallelic loss, but this does not definitively exclude its involvement in breast cancer predisposition.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2023)
Article
Oncology
Semanti Mukherjee, Chaitanya Bandlamudi, Matthew D. Hellmann, Yelena Kemel, Esther Drill, Hira Rizvi, Kaitlyn Tkachuk, Aliya Khurram, Michael F. Walsh, Marjorie G. Zauderer, Diana Mandelker, Sabine Topka, Ahmet Zehir, Preethi Srinivasan, Myvizhi Esai Selvan, Maria I. Carlo, Karen A. Cadoo, Alicia Latham, Jada G. Hamilton, Ying L. Liu, Steven M. Lipkin, Sami Belhadj, Gareth L. Bond, Zeynep H. Gumus, Robert J. Klein, Marc Ladanyi, David B. Solit, Mark E. Robson, David R. Jones, Mark G. Kris, Joseph Vijai, Zsofia K. Stadler, Christopher I. Amos, Barry S. Taylor, Michael F. Berger, Charles M. Rudin, Kenneth Offit
Summary: This study found that germline pathogenic/likely pathogenic variants (PV) in lung cancer predisposing genes are associated with a higher risk of developing lung cancer. These variants, particularly in DNA damage repair (DDR) pathway genes, are closely related to biallelic inactivation in tumors. It also revealed that patients with germline PV in lung cancer predisposing genes tend to be diagnosed at a younger age, and high-risk patients are more likely to carry germline PV.
CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION
(2022)
Article
Oncology
Walter H. Carbajal-Ochoa, Devin Johnson, Alvaro Alvarez, Ana M. Bernal, Jesus D. Anampa
Summary: This study aimed to compare the treatment and outcomes of non-Hispanic Black (NHB) and non-Hispanic White (NHW) women with inflammatory breast cancer (IBC). After accounting for demographic, clinicopathological, and socioeconomic factors, we found that although both groups had similar odds of receiving chemotherapy, surgery, and radiation therapy, NHB women had lower survival rates and a higher risk of death from breast cancer.
BREAST CANCER RESEARCH AND TREATMENT
(2023)
Article
Public, Environmental & Occupational Health
Amritha Kanakamedala, Jonathan A. Go, Sydney Wendt, Peter Ugoh, Mahmood Khan, Zaina Al-Mohtaseb
Summary: This study examined race-related differences in ocular and systemic comorbidities among female cataract patients, as well as differences in visual outcomes among races and insurance types for cataract surgery patients. Results showed disparities in smoking, hemoglobin A1c, hypertension, and diabetes mellitus frequencies among races, and differences in preoperative best-corrected visual acuity for patients undergoing cataract surgery based on race and insurance type.
JOURNAL OF WOMENS HEALTH
(2022)
Article
Oncology
Chenjie Zeng, Lisa A. Bastarache, Ran Tao, Eric Venner, Scott Hebbring, Justin D. Andujar, Sarah T. Bland, David R. Crosslin, Siddharth Pratap, Ayorinde Cooley, Jennifer A. Pacheco, Kurt D. Christensen, Emma Perez, Carrie L. Blout Zawatsky, Leora Witkowski, Hana Zouk, Chunhua Weng, Kathleen A. Leppig, Patrick M. A. Sleiman, Hakon Hakonarson, Marc. S. Williams, Yuan Luo, Gail P. Jarvik, Robert C. Green, Wendy K. Chung, Ali G. Gharavi, Niall J. Lennon, Heidi L. Rehm, Richard A. Gibbs, Josh F. Peterson, Dan M. Roden, Georgia L. Wiesner, Joshua C. Denny
Summary: This study utilized large datasets from three cohorts to identify associations between hereditary cancer genes and various phenotypes, highlighting the potential benefits of early detection and better management of cancer.
Article
Pathology
Jing Zhou, Congcong Chen, Xiaoyu Zhao, Tao Jiang, Yue Jiang, Juncheng Dai, Jiaping Chen
Summary: The study revealed significant associations of the SNPs rs7279204 in the PCNT gene and rs77922978 in the CEP295 gene with breast cancer susceptibility in the Han Chinese population. These two variants may have different effects in different groups of women and could potentially regulate cancer susceptibility genes.
PATHOLOGY RESEARCH AND PRACTICE
(2021)
Article
Oncology
Alexey Larionov, Eleanor Fewings, James Redman, Mae Goldgraben, Graeme Clark, John Boice, Patrick Concannon, Jonine Bernstein, David V. Conti, Marc WECARE Study Collaborative Grp, Marc Tischkowitz
Summary: In this study, researchers used genetic sequencing technologies to investigate the hereditary causes of second breast cancer in individuals who do not have alterations in the main breast cancer genes (BRCA1, BRCA2 and PALB2). They found that younger women with second breast cancers had a higher number of inherited gene alterations compared to women with only one breast cancer. This study improves our understanding of the hereditary contribution to second breast cancers.
Article
Genetics & Heredity
Kara N. Maxwell, Vishal Patel, Kevin T. Nead, Shana Merrill, Dana Clark, Qinqin Jiang, Bradley Wubbenhorst, Kurt D'Andrea, Roger B. Cohen, Susan M. Domchek, Jennifer J. D. Morrissette, Roger A. Greenberg, Daria Babushok, Katherine L. Nathanson
Summary: Inherited biallelic pathogenic variants (PVs) in BRCA2 can cause Fanconi Anemia complementation group D1 (FA-D1). Our study identified a case where the individual with biallelic BRCA2 PVs did not have bone marrow failure but developed multiple cancers. This expands the clinical spectrum of FA-D1 and emphasizes the importance of early recognition of this syndrome in families.
Article
Oncology
Siddhartha Yadav, Nicholas J. Boddicker, Jie Na, Eric C. Polley, Chunling Hu, Steven N. Hart, Rohan D. Gnanaolivu, Nicole Larson, Susan Holtegaard, Huaizhi Huang, Carolyn A. Dunn, Lauren R. Teras, Alpa V. Patel, James V. Lacey, Susan L. Neuhausen, Elena Martinez, Christopher Haiman, Fei Chen, Kathryn J. Ruddy, Janet E. Olson, Esther M. John, Allison W. Kurian, Dale P. Sandler, Katie M. O'Brien, Jack A. Taylor, Clarice R. Weinberg, Hoda Anton-Culver, Argyrios Ziogas, Gary Zirpoli, David E. Goldgar, Julie R. Palmer, Susan M. Domchek, Jeffrey N. Weitzel, Katherine L. Nathanson, Peter Kraft, Fergus J. Couch
Summary: The purpose of this study was to estimate the risk of contralateral breast cancer (CBC) among women with germline pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2. The results showed that BRCA1, BRCA2, and CHEK2 PV carriers with breast cancer had significantly higher risks of CBC, while only PALB2 PV carriers with ER-negative breast cancer had elevated risks. However, ATM PV carriers did not have significantly increased CBC risks. The study suggests that women diagnosed with breast cancer and known to carry germline PVs in certain genes may benefit from enhanced surveillance and risk reduction strategies.
JOURNAL OF CLINICAL ONCOLOGY
(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.
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
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
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
Steven Hart, Victor Garcia, Sarah N. Dudgeon, Matthew G. Hanna, Xiaoxian Li, Kim R. M. Blenman, Katherine Elfer, Amy Ly, Roberto Salgado, Joel Saltz, Rajarsi Gupta, Evangelos Hytopoulos, Denis Larsimont, Jochen Lennerz, Brandon D. Gallas
Summary: Quantifying tumor-infiltrating lymphocytes (TILs) in breast cancer tumors is a challenging task. With the advancement of whole slide imaging, computational models can be used to quantify TILs. This study aims to prepare a dataset for developers to validate their models and propose it to the FDA for the Medical Device Development Tool program. If the dataset is qualified, it can be used by model developers without additional documentation. The dataset aims to reduce the regulatory burden for developers and enable comparison between computational models.
JOURNAL OF PATHOLOGY
(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
Oncology
Mary B. Daly, Tuya Pal, Kara N. Maxwell, Jane Churpek, Wendy Kohlmann, Zahraa Alhilli, Banu Arun, Saundra S. Buys, Heather Cheng, Susan M. Domchek, Susan Friedman, Veda Giri, Michael Goggins, Andrea Hagemann, Ashley Hendrix, Mollie L. Hutton, Beth Y. Karlan, Nawal Kassem, Seema Khan, Katia Khoury, Allison W. Kurian, Christine Laronga, Julie S. Mak, John Mansour, Kevin McDonnell, Carolyn S. Menendez, Sofia D. Merajver, Barbara S. Norquist, Kenneth Offit, Dominique Rash, Gwen Reiser, Leigha Senter-Jamieson, Kristen Mahoney Shannon, Kala Visvanathan, Jeanna Welborn, Myra J. Wick, Marie Wood, Matthew B. Yurgelun, Mary A. Dwyer, Susan D. Darlow
Summary: The NCCN Guidelines focus on genetic/familial high-risk assessment for breast, ovarian, and pancreatic cancers. They provide recommendations for genetic counseling/testing and care strategies for individuals with pathogenic/likely pathogenic (P/LP) variants associated with increased risk. The updates include a new section for transgender, nonbinary, and gender diverse people, as well as testing criteria and management for TP53 P/LP variants and Li-Fraumeni syndrome.
JOURNAL OF THE NATIONAL COMPREHENSIVE CANCER NETWORK
(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.