
Archive
Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.
Sign up MyPHGKB to receive the daily hot topic email alert.
Archived Hot Topics of the Day By Date
Influence of family history on penetrance of hereditary cancers in a population setting.
Leigh Jackson et al. EClinicalMedicine 2023 11 102159
(Posted: Nov 14, 2023 8AM)
Combined population genomic screening for three high-risk conditions in Australia: a modelling study
P Lacaze et al, e Clin Medicine, November 2023
(Posted: Nov 11, 2023 4PM)
Neoplasia risk in patients with Lynch syndrome treated with immune checkpoint blockade.
Emily C Harrold et al. Nat Med 2023 10 (10) 2458-2463
(Posted: Oct 19, 2023 2PM)
Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
A Rosen et al, EJHG, July 20, 2023
(Posted: Jul 20, 2023 7AM)
The English National Lynch Syndrome Transformation Project
Brit Soc Gastro, July 14, 2023
(Posted: Jul 16, 2023 9AM)
The Promise of Population-based Genomic Screening for Selected Hereditary Conditions: Contributions of Cost-Effectiveness Analysis
ND Rao et al, CDC Blog Post, July 14, 2023
(Posted: Jul 14, 2023 1PM)
Summary for Patients: Population Genomic Screening for Three Common Hereditary Conditions.
et al. Ann Intern Med 2023 5 (5) I19
(Posted: Jun 02, 2023 9AM)
Screening for 3 Genetic Conditions Is Cost-effective in Younger People.
Emily Harris et al. JAMA 2023 5
(Posted: May 24, 2023 9AM)
Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis.
Gregory F Guzauskas et al. Ann Intern Med 2023 5
(Posted: May 09, 2023 5AM)
The "Scope" of Colorectal Cancer Screening in Lynch Syndrome: Is There an Optimal Interval?
Leah H Biller et al. J Natl Cancer Inst 2023 5
(Posted: May 05, 2023 9AM)
Coordinated prospective follow-up of Lynch syndrome is able to detect the majority of incident cancers
P Lafeuille et al, Dig and Liv Dis, April 23, 2023
(Posted: Apr 25, 2023 6AM)
Lynch syndrome: influence of additional susceptibility variants on cancer risk
R Vibert et al, EJHG, April 24, 2023
(Posted: Apr 24, 2023 6AM)
Patterns of care and outcomes of risk reducing surgery in women with pathogenic variants in non-BRCA and Lynch syndrome ovarian cancer susceptibility genes.
Zachary P Schwartz et al. Gynecol Oncol 2023 4 1-7
(Posted: Apr 12, 2023 9AM)
Microsatellite instability in non-colorectal and non-endometrial malignancies in patients with Lynch syndrome.
Lisa Elze et al. Journal of the National Cancer Institute 2023 4
(Posted: Apr 09, 2023 7AM)
Evaluating Colonoscopy Screening Intervals in Patients with Lynch Syndrome from a Large Canadian Registry
M Aronson et al, JNCI, March 25, 2023
(Posted: Mar 25, 2023 8AM)
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
MD Valentin et al, EClinicalMedicine, March 2023
(Posted: Mar 22, 2023 7AM)
A common cancer at an uncommon age.
Marios Giannakis et al. Science (New York, N.Y.) 2023 3 (6637) 1088-1090
(Posted: Mar 21, 2023 8AM)
Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: An observational study of four clinical workflows
C Wang et al, Genetics in Medicine, February 10, 2023
(Posted: Feb 11, 2023 0PM)
Gimme Shelter from Lynch Syndrome
G Hurst, Cure, February 8, 2023
(Posted: Feb 09, 2023 11AM)
Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Loong Lucy et al. Journal of medical genetics 2022 12
(Posted: Jan 04, 2023 6AM)
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer
C Moretz et al, JAMA Network Open, October 24, 2022
(Posted: Oct 24, 2022 0PM)
Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort
M Sarki et al, J Per Med, October 19, 2022
(Posted: Oct 20, 2022 8AM)
Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review
AL Young et al, EJHG, October 17, 2022
(Posted: Oct 17, 2022 7AM)
Genetic Testing Challenges in Oncology: Lynch Syndrome Diagnosis Despite Negative Test Results
T Ray, Precision Oncology News, August 29, 2022
(Posted: Aug 30, 2022 9AM)
Bowel cancer: what role do our genes play?
Genetics Education Program, August 19, 2022
(Posted: Aug 21, 2022 3PM)
Risk factors for gastric cancer in patients with Lynch syndrome.
Ortigão Raquel et al. European journal of gastroenterology & hepatology 2022 7
(Posted: Jul 20, 2022 7AM)
Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record
G Elhanan et al, Frontiers in Genetics, April 2022
(Posted: May 26, 2022 7AM)
Paired Tumor-Germline Testing as a Driver in Better Cancer Care
JW Henson et al, JAMA Network Open, May 20, 2022
(Posted: May 21, 2022 2PM)
Lynch syndrome; towards more personalized management?
J Llach et al, Best Practice & Research Clinical Gastroenterology, March 2022
(Posted: Apr 20, 2022 9AM)
New generation of cancer-preventing vaccines could wipe out tumors before they form
J Kaiser, Science, April 7, 2022
(Posted: Apr 09, 2022 1PM)
Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States.
Guzauskas Gregory F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
(Posted: Mar 05, 2022 7AM)
Lynch Syndrome
FORCE, February 2022
(Posted: Feb 20, 2022 7AM)
Lynch Syndrome: A Common Yet Under-Recognized Hereditary Cancer Predisposition
Lynch Syndrome Ireland, February 1, 2022
(Posted: Feb 01, 2022 7AM)
A Mini-Symposium: Implementing Precision and Equitable Public Health in Cascade Testing for Genetic Disorders
CDC event, Feb 10, 2022
(Posted: Dec 13, 2021 2PM)
30 year experience of index case identification and outcomes of cascade testing in high-risk breast and colorectal cancer predisposition genes
ER Woodward et al, EJHG, December 6, 2021
(Posted: Dec 06, 2021 6AM)
Up-Front Multigene Panel Testing for Cancer Susceptibility in Patients With Newly Diagnosed Endometrial Cancer: A Multicenter Prospective Study
MD Levine et al, JCO Precision Oncology, October 2021
(Posted: Dec 02, 2021 8AM)
Should Children Be Tested for Hereditary Cancer Syndromes?
G Hurst, Cure magazine, November 8, 2021
(Posted: Nov 09, 2021 6AM)
National Hereditary Cancer Week 2021
FORCE, September 2021
(Posted: Sep 29, 2021 10AM)
Should women with Lynch syndrome be offered gynaecological cancer surveillance?
NAJ Ryan, BMJ, September 2, 2021
(Posted: Sep 03, 2021 7AM)
Health Equity and Genetic Disorders
CDC, August 2021
(Posted: Sep 01, 2021 7AM)
Living with Lynch Syndrome: Pick Your Hard
G Hurst, Cure, August 31, 2021
(Posted: Sep 01, 2021 7AM)
PMS2 is the most frequently mutated Lynch syndrome (LS) gene in women with endometrial cancer (EC): what is the role that low penetrance LS genes play in EC?
M Levine et al, Obs Gyn, August 2021
(Posted: Aug 22, 2021 7AM)
Vaccine to Prevent Hereditary Cancers Nears Human Trials
S Jenks, NCI Blog, July 2021
(Posted: Jul 18, 2021 7AM)
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman Rachel et al. JCO precision oncology 2021 7
(Posted: Jul 14, 2021 6AM)
Expanding Germline Testing to All Patients With Esophagogastric Cancers—Easy to Do, Harder to Justify
JAMA Network Open, July 12, 2021
(Posted: Jul 13, 2021 7AM)
Primary care providers’ responses to unsolicited Lynch syndrome secondary findings of varying clinical significance
LN Galbraith et al, Genet in Med, June 10, 2021
(Posted: Jun 11, 2021 7AM)
Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study
The International Mismatch Repair Consortium, The Lancet Oncology, June 7, 2021
(Posted: Jun 09, 2021 7AM)
Stakeholders’ views of integrating universal tumour screening and genetic testing for colorectal and endometrial cancer into routine oncology
ER O'Shea et al, JHG, April 2021
(Posted: Apr 03, 2021 7AM)
Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis.
Baroutsou Vasiliki et al. Cancers 2021 13(4)
(Posted: Mar 09, 2021 9AM)
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer.
Bernstedt Sophie Walton et al. Hereditary cancer in clinical practice 2021 Feb 19(1) 18
(Posted: Feb 16, 2021 9AM)
New Technique Identifies Important Mutations Behind Lynch Syndrome - Approach could improve predictive value of genetic screening.
K Malcom, University of Michigan, January 27, 2021
(Posted: Jan 29, 2021 8AM)
Acquired somatic MMR deficiency is a major cause of MSI tumor in patients suspected for “Lynch-like syndrome” including young patients
S Lefol et al, EJHG, December 5, 2020
(Posted: Dec 07, 2020 8AM)
Pembrolizumab in MSI-H–dMMR Advanced Colorectal Cancer — A New Standard of Care
A Grothey, NEJM, December 2, 2020
(Posted: Dec 03, 2020 7AM)
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
MD Valentin et al, Genetics in Medicine, December 1, 2020
(Posted: Dec 01, 2020 8AM)
Endometrial Cancer.
Lu Karen H et al. The New England journal of medicine 2020 Nov (21) 2053-2064
(Posted: Nov 20, 2020 8AM)
Testing strategies for Lynch syndrome in people with endometrial cancer
NICE, October 28, 2020
(Posted: Oct 28, 2020 9AM)
Germline Testing for Lynch Syndrome: More Important Than Ever
B Cote, Onc Nursing News, October 2020
(Posted: Oct 12, 2020 7AM)
Diagnostics of Mutations in MMR/EPCAM Genes and Their Role in the Treatment and Care of Patients with Lynch Syndrome
J Sobocinka et al, MDPI Diagnostics, October 2020
(Posted: Oct 12, 2020 7AM)
Implementing Cancer Genomics in State Health Agencies: Mapping Activities to an Implementation Science Outcome Framework.
Green Ridgely Fisk et al. Public health genomics 2020 Sep 1-12
(Posted: Sep 18, 2020 9AM)
Refining risk-estimates in HNPCC: are we there yet?
PM ynch et al, JNCI Cancer Spectrum, 2020
(Posted: Sep 08, 2020 11AM)
LIVING WITH LYNCH 2020- Virtual Patient Workshop
Alive and Kicking and Colon Cancer Foundation Webinar October 9, 2020
(Posted: Aug 21, 2020 9AM)
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
AC Fahed et al, Nature Communications, August 20, 2020
(Posted: Aug 21, 2020 9AM)
Strategies to Identify and Care for Individuals with Inherited Cancer Syndromes
NCI Webinar, July 30, 2020
(Posted: Jul 07, 2020 10AM)
Clinical outcomes of a genomic screening program for actionable genetic conditions
AH Buchanan et al, Genetics in Medicine, June 30, 2020
(Posted: Jul 01, 2020 8AM)
Aspirin for Lynch syndrome: a legacy of prevention
MB Yurgelun et al, The Lancet, June 13, 2020
(Posted: Jun 13, 2020 7AM)
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial
J Burn et al, The Lancet June 13, 2020
(Posted: Jun 13, 2020 7AM)
Comparison of two Lynch screening strategies in endometrial cancer in a California health system.
Lentz Scott E et al. Gynecologic oncology 2020 May
(Posted: May 12, 2020 4PM)
Adequacy evaluation of the annual colonoscopic surveillance and individual difference of disease phenotypes in Lynch syndrome.
Taniguchi Fumitaka et al. Japanese journal of clinical oncology 2020 May
(Posted: May 12, 2020 4PM)
Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History
AP Patel, JAMA Network Open, April 29, 2020
(Posted: Apr 30, 2020 8AM)
Investigating the Link between Lynch Syndrome and Breast Cancer.
Sheehan Megan et al. European journal of breast health 2020 Apr 16(2) 106-109
(Posted: Apr 22, 2020 9AM)
Associations Between Mutations in MSH6 and PMS2 and Risk of Surveillance-detected Colorectal Cancer.
Lamba Mehul et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 Mar
(Posted: Apr 08, 2020 9AM)
The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care.
Møller Pål et al. Hereditary cancer in clinical practice 2020 186
(Posted: Mar 25, 2020 9AM)
My genes are stacked against me; it's made me a fighter
A Leippi, CBC News, January 22, 2020
(Posted: Jan 23, 2020 11AM)
Celebrating the career and contributions of Dr Henry T. Lynch (1928-2019).
Butel-Simoes Grace I et al. Internal medicine journal 2020 Jan 50(1) 108-109
(Posted: Jan 22, 2020 9AM)
Associations of Pathogenic Variants in MLH1, MSH2, and MSH6 With Risk of Colorectal Adenomas and Tumors and With Somatic Mutations in Patients With Lynch Syndrome.
Engel Christoph et al. Gastroenterology 2020 Jan
(Posted: Jan 15, 2020 8AM)
Mayo genomic database to use sequencing for 100K participants
G Slabodkin, Health Data Management, January 10, 2020
(Posted: Jan 13, 2020 9AM)
Benefit from extended surveillance interval on colorectal cancer risk in Lynch syndrome.
Lindberg Lars Joachim et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2019 Dec
(Posted: Jan 02, 2020 10AM)
Extent of Pedigree Required to Screen for and Diagnose Hereditary Nonpolyposis Colorectal Cancer: Comparison of Simplified and Extended Pedigrees.
Heo Yoonjung et al. Diseases of the colon and rectum 2019 Dec
(Posted: Dec 18, 2019 8AM)
Targeted deep-intronic sequencing in a cohort of unexplained cases of suspected Lynch syndrome.
Arnold Anke Marie et al. European journal of human genetics : EJHG 2019 Dec
(Posted: Dec 12, 2019 9AM)
Low Rates of Genetic Counseling and Testing in Individuals at Risk for Lynch Syndrome reported in the National Health Interview Survey.
Faust Nolan et al. Gastroenterology 2019 Dec
(Posted: Dec 11, 2019 9AM)
Implementing universal cancer screening programs can help sustain genomic medicine programs
AK Rahm et al, Frontiers in Genetics, December 2019
(Posted: Dec 11, 2019 7AM)
The Current Practice of Lynch Syndrome Diagnosis and Management in Italy: A Qualitative Assessment.
Tognetto Alessia et al. Public health genomics 2019 Dec 1-19
(Posted: Dec 07, 2019 7AM)
Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention.
Griffin Natalie E et al. Gynecologic oncology 2019 Nov
(Posted: Dec 04, 2019 10AM)
Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG).
Monahan Kevin J et al. Gut 2019 Nov
(Posted: Dec 04, 2019 9AM)
People with genetic condition should be given aspirin daily to slash their risk of colorectal cancer
Denton Daily, November 24, 2019
(Posted: Nov 25, 2019 8AM)
Guidelines for the management of hereditary colorectal cancer from the BSG /ACPGBI/UKCGG
British Society Gastroenterology, October 2019
(Posted: Nov 10, 2019 8AM)
Cost-effectiveness of Active Identification and Subsequent Colonoscopy Surveillance of Lynch Syndrome Cases.
Peterse Elisabeth F P et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Oct
(Posted: Oct 23, 2019 9AM)
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
MD Valentin et al, Hereditary Cancer in Clinical Practice, October 2019
(Posted: Oct 23, 2019 8AM)
The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome.
Kang Yoon-Jung et al. The Medical journal of Australia 2019 Oct
(Posted: Oct 16, 2019 9AM)
A Patient’s Guide to Endometrial Cancer-This cancer is on the rise. But early detection saves lives.
MO Shroeder, US News, October 4, 2019
(Posted: Oct 05, 2019 9AM)
Can an Aspirin a Day Prevent Colorectal Cancer in People with Lynch Syndrome?
S Bowen et al, CDC Blog, October 2, 2019
(Posted: Oct 04, 2019 10AM)
For women Lynch syndrome is about more than colon cancer.
Parker Wendy M et al. Cancer prevention research (Philadelphia, Pa.) 2019 Sep
(Posted: Oct 02, 2019 8AM)
Sir John Burn Delivers Seminar on Prediction and Prevention of Colorectal Cancer in Patients with Lynch Syndrome
NCI,September 26, 2019
(Posted: Sep 28, 2019 8AM)
Implementation science and genomic medicine in action: A case study
M Clyne et al, CDC Blog, September 18, 2019
(Posted: Sep 19, 2019 9AM)
White-light Endoscopy is Adequate for Lynch Syndrome Surveillance in a Randomized and Non-inferiority Study.
Rivero-Sánchez Liseth et al. Gastroenterology 2019 Sep
(Posted: Sep 18, 2019 10AM)
What you need to know about ovarian cancer
CDC, 2019
(Posted: Sep 05, 2019 8AM)
New Data Reveal that Expanding Genetic Testing Guidelines Could Identify More Patients with Increased Risks of Cancer
A Viejo, PRWeb, August 27, 2019
(Posted: Aug 28, 2019 7AM)
Implementing Universal Lynch Syndrome Screening across Multiple Healthcare Systems: Identifying Strategies to Facilitate and Maintain Programs in Different Organizational Contexts
NCI, August 2019
(Posted: Aug 23, 2019 11AM)
Rationale for evaluating breast cancers of Lynch syndrome patients for mismatch repair gene expression.
Sorscher Steven et al. Breast cancer research and treatment 2019 Aug
(Posted: Aug 14, 2019 8AM)
A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients
H LaDuca et al, Genetics in Medicine, August 13, 2019
(Posted: Aug 13, 2019 9AM)
Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 08, 2023
- Content source: