Chemoprevention in Inherited Colorectal Cancer Syndromes
Clin Colon Rectal Surg. 2023 Jul 19;37(3):172-179. doi: 10.1055/s-0043-1770384. eCollection 2024 May.ABSTRACTCancer prevention in hereditary gastrointestinal predisposition syndromes relies primarily on intensive screening (e.g., colonoscopy) or prophylactic surgery (e.g., colectomy). The use of chemopreventive agents as an adjunct to these measures has long been studied both in the general population and in hereditary cancer patients, in whom the risk of malignancy, and therefore the potential risk reduction, is considerably greater. However, to date only few compounds have been found to be effective, safe, and tolerable ...
Source: Clinical Colorectal Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Ophir Gilad Charles Muller Sonia S Kupfer Source Type: research
The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?
Clin Colon Rectal Surg. 2023 Jul 19;37(3):133-139. doi: 10.1055/s-0043-1770381. eCollection 2024 May.ABSTRACTThe field of cancer genetics has evolved significantly over the past 30 years. Genetic testing has become less expensive and more comprehensive which has changed practice patterns. It is no longer necessary to restrict testing to those with the highest likelihood of testing positive. In addition, we have learned that the criteria developed to determine who has the highest likelihood of testing positive are neither sensitive nor specific. As a result, the field is moving from testing only the highest risk patients id...
Source: Cancer Control - April 12, 2024 Category: Cancer & Oncology Authors: Lauren Gima Ilana Solomon Heather Hampel Source Type: research
The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?
Clin Colon Rectal Surg. 2023 Jul 19;37(3):133-139. doi: 10.1055/s-0043-1770381. eCollection 2024 May.ABSTRACTThe field of cancer genetics has evolved significantly over the past 30 years. Genetic testing has become less expensive and more comprehensive which has changed practice patterns. It is no longer necessary to restrict testing to those with the highest likelihood of testing positive. In addition, we have learned that the criteria developed to determine who has the highest likelihood of testing positive are neither sensitive nor specific. As a result, the field is moving from testing only the highest risk patients id...
Source: Clinical Breast Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Lauren Gima Ilana Solomon Heather Hampel Source Type: research
The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?
Clin Colon Rectal Surg. 2023 Jul 19;37(3):133-139. doi: 10.1055/s-0043-1770381. eCollection 2024 May.ABSTRACTThe field of cancer genetics has evolved significantly over the past 30 years. Genetic testing has become less expensive and more comprehensive which has changed practice patterns. It is no longer necessary to restrict testing to those with the highest likelihood of testing positive. In addition, we have learned that the criteria developed to determine who has the highest likelihood of testing positive are neither sensitive nor specific. As a result, the field is moving from testing only the highest risk patients id...
Source: Clinical Genitourinary Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Lauren Gima Ilana Solomon Heather Hampel Source Type: research
Management of Rectal Cancer in Lynch Syndrome: Balancing Risk Reduction and Quality of Life
Clin Colon Rectal Surg. 2023 Aug 10;37(3):180-184. doi: 10.1055/s-0043-1770730. eCollection 2024 May.ABSTRACTPatients with Lynch syndrome are predisposed to developing colorectal cancer and a variety of extracolonic malignancies, at a young age. The management of rectal cancer in the setting of Lynch syndrome is a complex clinical scenario that requires the expertise of a multidisciplinary management team. In this review, we delve into the approach for rectal cancer in these patients, and specifically focus on several key aspects of treatment. Some unique aspects of rectal cancer in Lynch syndrome include the decision betw...
Source: Clinical Colorectal Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Bradley A Krasnick Matthew F Kalady Source Type: research
The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?
Clin Colon Rectal Surg. 2023 Jul 19;37(3):133-139. doi: 10.1055/s-0043-1770381. eCollection 2024 May.ABSTRACTThe field of cancer genetics has evolved significantly over the past 30 years. Genetic testing has become less expensive and more comprehensive which has changed practice patterns. It is no longer necessary to restrict testing to those with the highest likelihood of testing positive. In addition, we have learned that the criteria developed to determine who has the highest likelihood of testing positive are neither sensitive nor specific. As a result, the field is moving from testing only the highest risk patients id...
Source: Clinical Colorectal Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Lauren Gima Ilana Solomon Heather Hampel Source Type: research
Current Trends in Vaccine Development for Hereditary Colorectal Cancer Syndromes
Clin Colon Rectal Surg. 2023 Jul 31;37(3):146-156. doi: 10.1055/s-0043-1770383. eCollection 2024 May.ABSTRACTThe coming of age for cancer treatment has experienced exponential growth in the last decade with the addition of immunotherapy as the fourth pillar to the fundamentals of cancer treatment-chemotherapy, surgery, and radiation-taking oncology to an astounding new frontier. In this time, rapid developments in computational biology coupled with immunology have led to the exploration of priming the host immune system through vaccination to prevent and treat certain subsets of cancer such as melanoma and hereditary color...
Source: Clinical Colorectal Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Charles M Bowen Krishna M Sinha Eduardo Vilar Source Type: research
Chemoprevention in Inherited Colorectal Cancer Syndromes
Clin Colon Rectal Surg. 2023 Jul 19;37(3):172-179. doi: 10.1055/s-0043-1770384. eCollection 2024 May.ABSTRACTCancer prevention in hereditary gastrointestinal predisposition syndromes relies primarily on intensive screening (e.g., colonoscopy) or prophylactic surgery (e.g., colectomy). The use of chemopreventive agents as an adjunct to these measures has long been studied both in the general population and in hereditary cancer patients, in whom the risk of malignancy, and therefore the potential risk reduction, is considerably greater. However, to date only few compounds have been found to be effective, safe, and tolerable ...
Source: Clinical Colorectal Cancer - April 12, 2024 Category: Cancer & Oncology Authors: Ophir Gilad Charles Muller Sonia S Kupfer Source Type: research
Evaluation of EGFR and COX pathway inhibition in human colon organoids of serrated polyposis and other hereditary cancer syndromes
This study examined effects of EGFR and COX pathway inhibition in organoid cultures derived from uninvolved colon and polyps of SPS patients. We also compared with organoids representing the hereditary gastrointestinal syndromes, Familial Adenomatous Polyposis (FAP) and Lynch syndrome (LS). Eighteen total organoid colon cultures were generated from uninvolved colon and polyps in SPS, FAP, LS, and non-syndromic screening colonoscopy patients.BRAF andKRAS mutation status was determined for each culture. Erlotinib (EGFR inhibitor) and sulindac (COX inhibitor) were applied individually and in combination. A 44-target gene cust...
Source: Familial Cancer - April 12, 2024 Category: Cancer & Oncology Source Type: research
Neoadjuvant immunotherapy in a locally advanced colon cancer patient with MSI-H and suspected Lynch syndrome: A case report
We present the case of a 46-year-old male who sought medical attention at our institution due to a history of hematochezia for two weeks, right-sided abdominal pain for one week, and loose stools. Imaging indicated duodenal involvement, and a biopsy confirmed ascending colon adenocarcinoma with MSI-H status. Given that the patient's family exhibited a history of more than three confirmed cases of colorectal cancer spanning two generations, Lynch syndrome was considered. After four cycles of PD-1 antagonist immunotherapy with carrilizumab, the patient's symptoms resolved, and physical examination revealed no abdominal tende...
Source: Zeitschrift fur Gastroenterologie - April 11, 2024 Category: Gastroenterology Authors: Xiaoyun Li Yining Xiang Yunhuan Zhen Yong Yu Source Type: research
Neoadjuvant immunotherapy in a locally advanced colon cancer patient with MSI-H and suspected Lynch syndrome: A case report
We present the case of a 46-year-old male who sought medical attention at our institution due to a history of hematochezia for two weeks, right-sided abdominal pain for one week, and loose stools. Imaging indicated duodenal involvement, and a biopsy confirmed ascending colon adenocarcinoma with MSI-H status. Given that the patient's family exhibited a history of more than three confirmed cases of colorectal cancer spanning two generations, Lynch syndrome was considered. After four cycles of PD-1 antagonist immunotherapy with carrilizumab, the patient's symptoms resolved, and physical examination revealed no abdominal tende...
Source: Zeitschrift fur Gastroenterologie - April 11, 2024 Category: Gastroenterology Authors: Xiaoyun Li Yining Xiang Yunhuan Zhen Yong Yu Source Type: research
Neoadjuvant immunotherapy in a locally advanced colon cancer patient with MSI-H and suspected Lynch syndrome: A case report
We present the case of a 46-year-old male who sought medical attention at our institution due to a history of hematochezia for two weeks, right-sided abdominal pain for one week, and loose stools. Imaging indicated duodenal involvement, and a biopsy confirmed ascending colon adenocarcinoma with MSI-H status. Given that the patient's family exhibited a history of more than three confirmed cases of colorectal cancer spanning two generations, Lynch syndrome was considered. After four cycles of PD-1 antagonist immunotherapy with carrilizumab, the patient's symptoms resolved, and physical examination revealed no abdominal tende...
Source: Zeitschrift fur Gastroenterologie - April 11, 2024 Category: Gastroenterology Authors: Xiaoyun Li Yining Xiang Yunhuan Zhen Yong Yu Source Type: research
Mitotic abnormalities precede microsatellite instability in lynch syndrome-associated colorectal tumourigenesis
This study aimed to identify precancerous functional changes in colonic mucosa that could facilitate the monitoring and prevention of cancer development in LS.METHODS: The study material comprised colon biopsy specimens (n = 71) collected during colonoscopy examinations from LS carriers (tumour-free, or diagnosed with adenoma, or diagnosed with carcinoma) and a control group, which included sporadic cases without LS or neoplasia. The majority (80%) of LS carriers had an inherited genetic MLH1 mutation. The remaining 20% included MSH2 mutation carriers (13%) and MSH6 mutation carriers (7%). The transcriptomes were first ana...
Source: Cancer Control - April 7, 2024 Category: Cancer & Oncology Authors: Marjaana Pussila Aleksi Laiho Petri T örönen Pauliina Bj örkbacka Sonja Nyk änen Kirsi Pylv änäinen Liisa Holm Jukka-Pekka Mecklin Laura Renkonen-Sinisalo Taru Lehtonen Anna Lepist ö Jere Linden Satu M äki-Nevala P äivi Peltomäki Minna Nystr öm Source Type: research
Tumor analysis of MMR genes in Lynch ‐like syndrome: Challenges associated with results interpretation
DiscussionMore biallelic somatic events were identified at VAF ≥ 5% than ≥10% (35.9% vs. 25.6%), although the rate of nonconcordant results regarding immunohistochemical pattern increased (30.8% vs. 20.5%). Interpretation difficulties question the current utility of the identification of MMR somatic hits in the diagnostic algorithm of suspected LS case s. (Source: Cancer Medicine)
Source: Cancer Medicine - April 1, 2024 Category: Cancer & Oncology Authors: Paula Rofes,
N úria Dueñas,
Jesús del Valle,
Matilde Navarro,
Judith Balmaña,
Teresa Ramón y Cajal,
Noemí Tuset,
Carmen Castillo,
Sara González,
Joan Brunet,
Gabriel Capellá,
Conxi Lázaro,
Marta Pineda Tags: RESEARCH ARTICLE Source Type: research
Challenges and opportunities for Lynch syndrome cascade testing in the United States
AbstractLynch syndrome is an underdiagnosed genetic condition that increases lifetime colorectal, endometrial, and other cancer risk. Cascade testing in relatives is recommended to increase diagnoses and enable access to cancer prevention services, yet uptake is limited due to documented multi-level barriers. Individual barriers such as feelings of fear, guilt, and anxiety and limited knowledge about Lynch syndrome as well as interpersonal barriers including complex family dynamics and language barriers limit family communication about Lynch syndrome and prevent uptake of genetic screening for relatives. Organizational and...
Source: Familial Cancer - March 28, 2024 Category: Cancer & Oncology Source Type: research
