Review
Oncology
Shuangshuang Zhao, Lingli Chen, Yuqin Zang, Wenlu Liu, Shiqi Liu, Fei Teng, Fengxia Xue, Yingmei Wang
Summary: Lynch syndrome (LS) is caused by germline pathogenic variants in mismatch repair (MMR) genes, leading to LS-associated endometrial cancer (LS-EC) which has specific clinicopathologic features. Screening, diagnosis, surveillance, prevention and treatment for LS-EC have significantly advanced, with recommendations for universal LS screening among EC patients.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Review
Medicine, General & Internal
Emma J. Crosbie, Sarah J. Kitson, Jessica N. McAlpine, Asima Mukhopadhyay, Melanie E. Powell, Naveena Singh
Summary: Endometrial cancer is the most common gynaecological cancer in high income countries, with a global rise in incidence. Obesity is the major underlying cause, posing challenges for diagnosis and treatment. Early presentation with postmenopausal bleeding ensures cure, but advanced cases have poor prognosis. Minimally invasive surgical staging and targeted chemotherapeutic strategies are important advances.
Article
Biochemistry & Molecular Biology
Rong Bu, Abdul K. Siraj, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Khadija Alobaisi, Padmanaban Annaiyappanaidu, Nabil Siraj, Hamed AlHusaini, Osama Alomar, Ismail A. Al-Badawi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Summary: This study investigated the frequency of LS in EC patients from Saudi Arabia and found that the prevalence of LS was low, with LLS being as common as LS in this population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Obstetrics & Gynecology
Joseph A. Dottino, Qian Zhang, David S. Loose, Bryan Fellman, Brenda D. Melendez, Mikayla S. Borthwick, Laurie J. McKenzie, Ying Yuan, Richard K. Yang, Russell R. Broaddus, Karen H. Lu, Pamela T. Soliman, Melinda S. Yates
Summary: Obesity in premenopausal women may not create a local hyperestrogenic environment, but instead reflect a decreased cancer risk profile. Further studies are warranted to evaluate individualized biomarker profiles for differences in hormone-responsive signals or immune response. Women with Lynch syndrome and obesity may have an increased risk of developing cancer based on endometrial biomarker profiles.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Oncology
Soyoun Rachel Kim, Alicia Tone, Raymond H. Kim, Matthew Cesari, Blaise A. Clarke, Lua Eiriksson, Tae L. Hart, Melyssa Aronson, Spring Holter, Alice Lytwyn, Manjula Maganti, Leslie Oldfield, Steven Gallinger, Marcus Q. Bernardini, Amit M. Oza, Bojana Djordjevic, Jordan Lerner-Ellis, Emily van de Laar, Danielle Vicus, Trevor J. Pugh, Aaron Pollett, Sarah E. Ferguson
Summary: The implementation of a navigated genetic program resulted in a high rate of genetic assessment in patients with endometrial or nonserous/nonmucinous ovarian cancer at risk for Lynch syndrome.
Article
Oncology
Andreana N. Holowatyj, Mary K. Washington, Sean Tavtigian, Cathy Eng, Carolyn Horton
Summary: This study assessed the prevalence and spectrum of inherited cancer susceptibility gene sequence variations in patients with appendiceal cancer and found that these variations are relatively common in this population. These data suggest that genetic evaluation might be warranted for all patients diagnosed with this rare malignant tumor.
Article
Oncology
Courtney J. Riedinger, Morgan Brown, Paulina J. Haight, Floor J. Backes, David E. Cohn, Paul J. Goodfellow, Casey M. Cosgrove
Summary: This study evaluated the contribution of mismatch repair (MMR) status to traditional risk stratification algorithms in predicting nodal involvement and recurrence. The results showed that epigenetic MMR deficiency was associated with increased risks of lymph node metastasis and recurrence. Traditional uterine-based risk stratification algorithms may not fully reflect the risk for recurrence in MMR deficient tumors. Therefore, considering MMR status and MLH1 hypermethylation alongside traditional risk stratification algorithms is recommended.
FRONTIERS IN ONCOLOGY
(2023)
Article
Pathology
Julia Canet-Hermida, Fatima Marin, Eduard Dorca, Nuria Duenas, Laura Costas, Monica Salinas, Angela Velasco, Paula Peremiquel-Trillas, Sonia Paytubi, Jordi Ponce, Sergi Fernandez, Jose Manuel Martinez, Laura Cardenas, Anna Taltavull, Laia Alemany, Cristina Melendez, Gloria Oliveras, August Vidal, Gabriel Capella, Eugeni Lopez-Bonet, Joan Brunet, Xavier Matias-Guiu, Marta Pineda
Summary: The study explored the utility of highly sensitive MSI assessment in endometrial aspirates for individualized gynecologic surveillance in Lynch syndrome carriers. The results showed that hs-MSI assessment can detect cellular abnormalities in LS carriers in premalignant lesions, malignant lesions, and normal endometrium, and is associated with loss of mismatch repair proteins.
Review
Oncology
Rong Huang, Xiangyu Deng, Zhenhua Zhang, Qinglian Wen, Dan Li
Summary: This case report presents a 45-year-old woman with LS-associated endometrial cancer (LS-EC) who had EPCAM and MSH2 gene deletions, confirming the presence of LS. Despite early recurrence, the patient experienced favorable oncologic outcomes.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Yoland Antill, Daniel D. Buchanan, Clare L. Scott
Summary: Endometrial cancer patients with Lynch gene or POLE/POLD1 gene mutations are more likely to respond well to immune therapy, while those with silencing of the MLH1 gene may not be as responsive. Combination therapies may be important to consider for these patients.
Review
Oncology
Samuel Oxley, Ran Xiong, Xia Wei, Ashwin Kalra, Michail Sideris, Rosa Legood, Ranjit Manchanda
Summary: This study reviewed the research on the quality of life after hysterectomy for the prevention of endometrial cancer. The evidence on quality of life after this surgery is very limited, but generally shows reduced worry about cancer and overall satisfaction among women. However, the removal of both ovaries severely impacts menopause-specific quality of life and sexual function, particularly without hormone-replacement therapy.
Article
Oncology
Hannah C. Karpel, Maria Smith, Allison Brodsky, Bhavana Pothuri
Summary: This study aimed to increase the rate of genetic counseling referrals and testing for Lynch Syndrome in endometrial cancer patients through the implementation of a specific protocol. The results showed a significant increase in the frequency of genetic counseling referrals after the protocol initiation. However, there was no statistically significant difference in the rate of genetic testing. This study highlights the importance of Lynch Syndrome screening in clinical practice.
GYNECOLOGIC ONCOLOGY
(2023)
Article
Oncology
Yen-Ling Lai, Chun-Ju Chiang, Yu-Li Chen, San-Lin You, Yun-Yuan Chen, Ying-Cheng Chiang, Yi-Jou Tai, Heng-Cheng Hsu, Chi-An Chen, Wen-Fang Cheng
Summary: The study found that even women treated for EC with surgery alone, especially young EC survivors, had an increased risk of SPCs. Genetic counseling/testing is recommended for young EC patients, and all are recommended to receive regular surveillance and screening for breast, colorectal, and lung cancers.
Review
Medicine, General & Internal
Vicky Makker, Helen MacKay, Isabelle Ray-Coquard, Douglas A. Levine, Shannon N. Westin, Daisuke Aoki, Ana Oaknin
Summary: This comprehensive review provides updates on the epidemiology, pathophysiology, diagnosis, treatment, and patient quality-of-life considerations in the management of endometrial cancer. The Primer by Makker and colleagues summarizes the epidemiology, pathophysiology, diagnosis, treatment, and future research directions for endometrial cancer.
NATURE REVIEWS DISEASE PRIMERS
(2021)
Article
Oncology
Monica D. Levine, David A. Barrington, Heather Hampel, Paul J. Goodfellow, David E. Cohn
Summary: This study proposes an optimized diagnostic algorithm for newly diagnosed endometrial cancer patients, aiming to improve diagnosis and save costs through upfront multi-gene panel testing. The results show that adopting this algorithm could lead to cost savings of $259 per patient and potentially identify more patients with Lynch syndrome and BRCA1/BRCA2 genetic variants.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Public, Environmental & Occupational Health
Sibel Saya, Jennifer G. McIntosh, Ingrid M. Winship, Shakira Milton, Mark Clendenning, Mary Kyriakides, Jasmeen Oberoi, Daniel D. Buchanan, Mark A. Jenkins, Jon D. Emery
Summary: This study examined informed decision-making and attitudes towards genomic testing for colorectal cancer risk in primary care. The results showed that genomic testing did not pose significant concern to most patients, with positive attitudes being the most prevalent. However, some participants expressed negative attitudes, and many were indifferent towards the test.
PATIENT EDUCATION AND COUNSELING
(2022)
Article
Oncology
James M. Chan, Mark Clendenning, Sharelle Joseland, Peter Georgeson, Khalid Mahmood, Romy Walker, Julia Como, Jihoon E. Joo, Susan Preston, Ryan A. Hutchinson, Bernard J. Pope, Andrew Metz, Catherine Beard, Rebecca Purvis, Julie Arnold, Varnika Vijay, Galina Konycheva, Nathan Atkinson, Susan Parry, Mark A. Jenkins, Finlay A. Macrae, Christophe Rosty, Ingrid M. Winship, Daniel D. Buchanan
Summary: Germline loss-of-function variants in AXIN2 are associated with oligodontia and ectodermal dysplasia. The study identified four families with pathogenic variants in AXIN2 that were associated with CRC and/or polyposis in multiple family members, supporting the inclusion of AXIN2 in CRC and polyposis multigene panels for clinical testing.
Article
Oncology
Yuhan Huang, Xinwei Hua, Julia D. Labadie, Tabitha A. Harrison, James Y. Dai, Sara Lindstrom, Yi Lin, Sonja Berndt, Daniel D. Buchanan, Peter T. Campbell, Graham Casey, Steven J. Gallinger, Marc J. Gunter, Michael Hoffmeister, Mark A. Jenkins, Lori C. Sakoda, Robert E. Schoen, Brenda Diergaarde, Martha L. Slattery, Emily White, Graham Giles, Hermann Brenner, Jenny Chang-Claude, Amit Joshi, Wenjie Ma, Rish K. Pai, Andrew T. Chan, Ulrike Peters, Polly A. Newcomb
Summary: Elevated levels of C-reactive protein (CRP) in the blood have been associated with colorectal cancer (CRC) survival. This study examined the genetic variants associated with CRP levels and their interactions with sex and lifestyle factors in relation to CRC-specific mortality. The results showed a significant interaction between a genetic variant and sex in determining CRC-specific mortality.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Medicine, Research & Experimental
Anna Wood, Jon D. Emery, Mark Jenkins, Patty Chondros, Tina Campbell, Edweana Wenkart, Clare O'Reilly, Tony Cowie, Ian Dixon, Julie Toner, Hourieh Khalajzadeh, Javiera Martinez Gutierrez, Linda Govan, Gemma Buckle, Jennifer G. McIntosh
Summary: This study aims to test the effectiveness of a SMS intervention in increasing participation in the Australian National Bowel Cancer Screening Program (NBCSP), and to explore the barriers and facilitators of sending SMS from general practice. The study will recruit 20 general practices to participate in a cluster randomised controlled trial, and the SMS intervention will include GP endorsement and narrative messages about the benefits and instructions of completing the NBCSP kit. The primary outcome is the difference in the proportion of eligible patients completing a faecal occult blood test (FOBT) between the intervention and control group.
Article
Genetics & Heredity
Cathy Shyr, Amanda L. Blackford, Theodore Huang, Jianfeng Ke, Nofal Ouardaoui, Lorenzo Trippa, Sapna Syngal, Chinedu Ukaegbu, Hajime Uno, Khedoudja Nafa, Zsofia K. Stadler, Kenneth Offit, Christopher I. Amos, Patrick M. Lynch, Sining Chen, Francis M. Giardiello, Daniel D. Buchanan, John L. Hopper, Mark A. Jenkins, Melissa C. Southey, Aung Ko Win, Jane C. Figueiredo, Danielle Braun, Giovanni Parmigiani
Summary: This study evaluated the predictive performance of models for predicting the probability of an individual having a pathogenic homozygous or heterozygous variant in a mismatch repair gene, such as MMRpro, for individuals with a family history of colorectal cancer. MMRpro+ and PREMM5 showed good discrimination and predictive accuracy.
GENETICS IN MEDICINE
(2022)
Article
Medicine, Research & Experimental
Sibel Saya, Lucy Boyd, Patty Chondros, Mairead McNamara, Michelle King, Shakira Milton, Richard De Abreu Lourenco, Malcolm Clark, George Fishman, Julie Marker, Cheri Ostroff, Richard Allman, Fiona M. Walter, Daniel Buchanan, Ingrid Winship, Jennifer McIntosh, Finlay Macrae, Mark Jenkins, Jon Emery
Summary: This study aims to investigate whether using personalized CRC risk assessment based on PRS in primary care can increase risk-appropriate CRC screening. By providing risk reports and personalized screening recommendations in general practice, it can accurately predict CRC risk and improve screening rates.
Article
Medicine, Research & Experimental
Minhee L. Sung, Adam Viera, Denise Esserman, Guangyu Tong, Daniel Davidson, Sherry Aiudi, Genie L. Bailey, Ashley L. Buchanan, Marianne Buchelli, Mark Jenkins, Betsey John, Jennifer Kolakowski, Albana Lame, Sean M. Murphy, Elizabeth Porter, Laura Simone, Manuel Paris, Carla J. Rash, E. Jennifer Edelman
Summary: This study introduces a new research called CoMPASS, which aims to promote HIV risk reduction among persons who inject drugs (PWID). It is a hybrid type 1 effectiveness-implementation trial that utilizes rewards and ongoing support to encourage PWID to use HIV preexposure prophylaxis (PrEP). Trained PrEP navigators deliver interventions, including PrEP and other relevant treatments. The primary outcome is sustained PrEP adherence at 24 weeks. The results of this study will provide insights into the feasibility and impact of implementing CoMPASS in community-based organizations.
CONTEMPORARY CLINICAL TRIALS
(2023)
Article
Gastroenterology & Hepatology
Tomotaka Ugai, Naohiko Akimoto, Koichiro Haruki, Tabitha A. Harrison, Yin Cao, Conghui Qu, Andrew T. Chan, Peter T. Campbell, Sonja Berndt, Daniel D. Buchanan, Amanda J. Cross, Brenda Diergaarde, Steven J. Gallinger, Marc J. Gunter, Sophia Harlid, Akihisa Hidaka, Michael Hoffmeister, Hermann Brenner, Jenny Chang-Claude, Li Hsu, Mark A. Jenkins, Yi Lin, Roger L. Milne, Victor Moreno, Polly A. Newcomb, Reiko Nishihara, Mireia Obon-Santacana, Rish K. Pai, Lori C. Sakoda, Robert E. Schoen, Martha L. Slattery, Wei Sun, Efrat L. Amitay, Elizabeth Alwers, Stephen N. Thibodeau, Amanda E. Toland, Bethany Van Guelpen, Syed H. Zaidi, John D. Potter, Jeffrey A. Meyerhardt, Marios Giannakis, Mingyang Song, Jonathan A. Nowak, Ulrike Peters, Amanda Phipps, Shuji Ogino
Summary: This study analyzed 13,101 colorectal cancer cases and found a significant association between tumor location and molecular features. The detailed colonic location and tumor molecular features play an important role in the prognostication and precision medicine of colon cancer.
JOURNAL OF GASTROENTEROLOGY
(2023)
Article
Multidisciplinary Sciences
Cameron B. Haas, Yu-Ru Su, Paneen Petersen, Xiaoliang Wang, Stephanie A. Bien, Yi Lin, Demetrius Albanes, Stephanie J. Weinstein, Mark A. Jenkins, Jane C. Figueiredo, Polly A. Newcomb, Graham Casey, Loic Le Marchand, Peter T. Campbell, Victor Moreno, John D. Potter, Lori C. Sakoda, Martha L. Slattery, Andrew T. Chan, Li Li, Graham G. Giles, Roger L. Milne, Stephen B. Gruber, Gad Rennert, Michael O. Woods, Steven J. Gallinger, Sonja Berndt, Richard B. Hayes, Wen-Yi Huang, Alicja Wolk, Emily White, Hongmei Nan, Rami Nassir, Noralane M. Lindor, Juan P. Lewinger, Andre E. Kim, David Conti, W. James Gauderman, Daniel D. Buchanan, Ulrike Peters, Li Hsu
Summary: Observational studies have shown that higher folate consumption is associated with a lower risk of colorectal cancer. This study investigated the interaction between genetic risk factors and folate consumption on colorectal cancer risk. The results suggest that certain genes involved in preventing or repairing DNA damage may interact with folate consumption to alter the risk of colorectal cancer.
SCIENTIFIC REPORTS
(2022)
Meeting Abstract
Oncology
Meredith A. J. Hullar, Keith R. Curtis, Tabitha A. Harrison, Yi Lin, Robert S. Steinfelder, Sonja I. Berndt, Daniel D. Buchanan, Andrew T. Chan, David Drew, Jane C. Figueiredo, Amy J. French, Ellen L. Goode, Mark A. Jenkins, Yohannes A. Melaku, Victor Moreno, Shuji Ogino, Stephen N. Thibideau, Amanda I. Phipps, Ulrike Peters
Meeting Abstract
Oncology
Tomotaka Ugai, Yin Cao, Koichiro Haruki, Tabitha A. Harrison, Daniel D. Buchanan, Peter T. Campbell, Andrew T. Chan, Steven Gallinger, Marc J. Gunter, Michael Hoffmeister, Mark A. Jenkins, Roger L. Milne, Polly A. Newcomb, Rish K. Pai, Andrew J. Pellatt, Robert E. Schoen, Bethany Van Guelpen, Michael O. Woods, Amanda I. Phipps, Ulrike Peters, Shuji Ogino
Meeting Abstract
Oncology
Meredith A. J. Hullar, Keith R. Curtis, Tabitha A. Harrison, Yi Lin, Robert S. Steinfelder, Sonja I. Berndt, Daniel D. Buchanan, Andrew T. Chan, David Drew, Jane C. Figueiredo, Amy J. French, Ellen L. Goode, Mark A. Jenkins, Yohannes A. Melaku, Victor Moreno, Shuji Ogino, Stephen N. Thibideau, Amanda I. Phipps, Ulrike Peters
Meeting Abstract
Pathology
Sameer Shivji, Reetesh Pai, Christophe Rosty, Daniel Buchanan, Mark Jenkins, Loic Le Marchand, Polly Newcomb, Steven Hart, Daniela Baum, Robert Grant, Noralane Lindor, Douglas Hartman, David Schaeffer, David Cyr, James Conner, Richard Kirsch, Rish Pai
Meeting Abstract
Pathology
Sameer Shivji, Reetesh Pai, Christophe Rosty, Daniel Buchanan, Mark Jenkins, Loic Le Marchand, Polly Newcomb, Steven Hart, Daniela Baum, Robert Grant, Noralane Lindor, Douglas Hartman, David Schaeffer, David Cyr, James Conner, Richard Kirsch, Rish Pai
Article
Oncology
Alexi N. Archambault, Jihyoun Jeon, Yi Lin, Minta Thomas, Tabitha A. Harrison, D. Timothy Bishop, Hermann Brenner, Graham Casey, Andrew T. Chan, Jenny Chang-Claude, Jane C. Figueiredo, Steven Gallinger, Stephen B. Gruber, Marc J. Gunter, Feng Guo, Michael Hoffmeister, Mark A. Jenkins, Temitope O. Keku, Loic Le Marchand, Li Li, Victor Moreno, Polly A. Newcomb, Rish Pai, Patrick S. Parfrey, Gad Rennert, Lori C. Sakoda, Jeffrey K. Lee, Martha L. Slattery, Mingyang Song, Aung Ko Win, Michael O. Woods, Neil Murphy, Peter T. Campbell, Yu-Ru Su, Iris Lansdorp-Vogelaar, Elisabeth F. P. Peterse, Yin Cao, Anne Zeleniuch-Jacquotte, Peter S. Liang, Mengmeng Du, Douglas A. Corley, Li Hsu, Ulrike Peters, Richard B. Hayes
Summary: This study developed risk prediction models for early-onset colorectal cancer (CRC) that incorporate an environmental risk score (ERS) and a polygenic risk score (PRS). The study found that increasing values of ERS and PRS were associated with increasing relative risks for early-onset CRC. Personal risk scores have the potential to identify individuals at differential relative and absolute risk for early-onset CRC, and may improve screening and outcomes.
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
(2022)
