Article
Gastroenterology & Hepatology
Jordan J. Karlitz, Amanda Phillips, Kelly S. Sorrells, Shanti Rao
Summary: This study is the first to assess hereditary CRC in a large US regional founder population. While no clear Cajun founder pathogenic variants were identified in the results, larger studies are warranted, which could also help clarify the clinical significance of the adenomatous polyposis coli variant of unknown significance.
CLINICAL AND TRANSLATIONAL GASTROENTEROLOGY
(2021)
Article
Nutrition & Dietetics
Matteo Lazzeroni, Federica Bellerba, Mariarosaria Calvello, Finlay Macrae, Aung Ko Win, Mark Jenkins, Davide Serrano, Monica Marabelli, Sara Cagnacci, Gianluca Tolva, Debora Macis, Sara Raimondi, Luca Mazzarella, Susanna Chiocca, Saverio Caini, Lucio Bertario, Bernardo Bonanni, Sara Gandini
Summary: There is a sex-specific association between obesity and colorectal neoplasia in patients with Lynch Syndrome (LS), with obese men having a twofold risk of CRC compared to nonobese men. The study also found a 49% increased CRC risk for subjects with an MLH1 mutation due to obesity. These results support public measures to reduce overweight in people with LS, particularly for men.
Review
Genetics & Heredity
Nadine Abu-Ghazaleh, Varun Kaushik, Alexandra Gorelik, Mark Jenkins, Finlay Macrae
Summary: According to this study, the prevalence of Lynch syndrome is remarkably similar across different populations. Universal germline testing of cancer patients can identify that most colorectal cancers are attributed to Lynch syndrome. Young colorectal cancer patients and those who fulfill familial risk criteria provide the highest returns for Lynch syndrome identification. Therefore, this study supports universal germline screening for Lynch syndrome.
GENETICS IN MEDICINE
(2022)
Review
Gastroenterology & Hepatology
Ellis L. Eikenboom, Anne-Sophie van der Werf-'t Lam, Mar Rodriguez-Girondo, Christi J. Van Asperen, Winand N. M. Dinjens, Robert M. W. Hofstra, Monique E. Van Leerdam, Hans Morreau, Manon C. W. Spaander, Anja Wagner, Maartje Nielsen
Summary: This study investigates the effectiveness and cost of immunohistochemistry testing in Lynch syndrome patients and their relatives. The proportion of MMRd and MMR germline PV is influenced by age, completeness, and type of diagnostics, and complete diagnostics can explain almost all MMRd CRC, contributing to optimizing testing and surveillance.
CLINICAL GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Review
Genetics & Heredity
Amicia Phillips, Pascal Borry, Ine Van Hoyweghen, Danya F. Vears
Summary: The findings of the study highlight the discrepancies and lack of clarity in normative documents regarding the disclosure of genetic information to family members by healthcare professionals. Clearer guidance is needed to facilitate appropriate and ethical disclosure practices.
GENETICS IN MEDICINE
(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.
Review
Oncology
Cristina Mitric, Lina Salman, Lusine Abrahamyan, Soyoun Rachel Kim, Petros Pechlivanoglou, Kelvin K. W. Chan, Lilian T. Gien, Sarah E. Ferguson
Summary: The study investigates the prevalence of mismatch repair protein deficiency (MMRd), microsatellite instability (MSI), and Lynch syndrome (LS) in epithelial ovarian cancer (EOC) and their diagnostic accuracy. It also examines the prevalence of MMRd, MSI-high, and LS in synchronous ovarian endometrial cancer and in histological subtypes.
GYNECOLOGIC ONCOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Lisa Marie Ballard, Rebecca Band, Anneke M. Lucassen
Summary: The mainstreaming of genetic testing has led to an increase in the finding of heritable susceptibility to disease. However, there is a lack of effective interventions to improve the sharing of genetic test results and increase knowledge, motivation, and self-efficacy among patients and their relatives.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Oncology
Joana Lemos Garcia, Isadora Rosa, Sofia Saraiva, Ines Marques, Ricardo Fonseca, Pedro Lage, Ines Francisco, Patricia Silva, Bruno Filipe, Cristina Albuquerque, Isabel Claro
Summary: Recognition of hereditary colorectal cancer (CRC) syndrome is crucial, and Lynch Syndrome (LS) is the most frequent immunohistochemistry (IHC)-screening for mismatch repair proteins (MMR) deficiency in CRC. An unicentric cohort study was conducted in a central Oncological Hospital to assess its results. Routine immunohistochemistry screening for MMR protein deficiency in CRC patients under 70 years-old identified Lynch Syndrome patients that could be missed using restrictive criteria. These results highlight the importance of universal CRC screening for MMR protein status.
Article
Oncology
Erik Lundqvist, Ekaterina Kuchinskaya, Kalle Landerholm, Jeanette Assarsson, Anna Benckert, Par Myrelid, Staffan Haapaniemi
Summary: Early-onset colorectal cancer patients should be suspected of having hereditary colorectal cancer syndrome, but currently few patients receive genetic counselling, which may result in a low diagnosis rate of hereditary colorectal cancer.
SURGICAL ONCOLOGY-OXFORD
(2022)
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
Multidisciplinary Sciences
Abdul Khalid Siraj, Rong Bu, Tariq Masoodi, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Wael Al-Haqawi, Hassan Al-Dossari, Saud Azam, Zeeshan Qadri, Padmanaban Annaiyappanaidu, Fouad Al-Dayel, Khawla Sami Al-Kuraya
Summary: RNF43 mutations are frequently found in Middle Eastern CRC, with a strong association with right-sided and sporadic MSI CRC, and no association with other clinical and pathological features.
SCIENTIFIC REPORTS
(2022)
Review
Oncology
Amit Atwal, Tristan Snowsill, Marcus Cabrera Dandy, Thomas Krum, Claire Newton, Dafydd Gareth Evans, Emma J. Crosbie, Neil A. J. Ryan
Summary: Ovarian cancer has low survival rates and is often diagnosed late. Checkpoint inhibitors have shown potential as a treatment for ovarian cancer, but their use is limited by the lack of data on the prevalence of mismatch repair deficiency. This study conducted a systematic review and meta-analysis to estimate the prevalence of mismatch repair deficiency in ovarian cancer. The results showed that a significant minority of ovarian cancer cases display mismatch repair deficiency and could potentially benefit from checkpoint inhibition therapy. However, further high-quality studies are needed to explore the use of multimodal testing and the efficacy of checkpoint inhibitors in mismatch repair deficient ovarian cancer.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Oncology
Surabhi Gupta, Cassandra B. Nichols, Jessica Phillips, Sarah O'Sullivan, Chloe Ayres, Ganendra Raj Mohan, Yee Leung, Colin J. R. Stewart, Adeline Tan, Lyn Schofield, Stuart G. Salfinger, Catherine Kiraly-Borri, Nicholas Pachter, Paul A. Cohen
Summary: The study found that universal immunohistochemical screening did not increase the proportion of Lynch syndrome associated endometrial carcinomas identified, although there was an improvement in appropriate referrals for genetic assessment.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2021)
Review
Clinical Neurology
Edina Komlodi-Pasztor, Jaishri O. Blakeley
Summary: Although genetic conditions causing primary central nervous system tumors are rare, recent advances in molecular diagnostics have improved the ability to diagnose these conditions. Clinicians need to be aware of the clinical presentation of genetic conditions predisposing to brain tumors in order to identify appropriate patients for genetic testing, as therapeutic advances for specific genetic variants become increasingly available, impacting patient outcomes directly.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2021)