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Last Posted: Nov 30, 2023
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Influence of family history on penetrance of hereditary cancers in a population setting.
Leigh Jackson et al. EClinicalMedicine 2023 11 102159

From the abstract: "Women with a pathogenic BRCA1 or BRCA2 variant had an increased risk of breast cancer that was higher in those with a first-degree family history (relative hazard 10.3 and 7.8, respectively) than those without (7.2 and 4.7). Penetrance to age 60 was also higher in those with a family history (44.7%, CI 32.2-59.3 and 24.1%, CI 17.5-32.6) versus those without (22.8%, CI 15.9-32.0 and 17.9%, CI 13.8-23.0). A similar pattern was seen in Lynch syndrome: individuals with a pathogenic MLH1, MSH2 or MSH6 variant had an increased risk of colorectal cancer that was significantly higher in those with a family history (relative hazard 35.6, 48.0 and 9.9) "

Personalized Initial Screening Age for Colorectal Cancer in Individuals at Average Risk.
Xuechen Chen et al. JAMA Netw Open 2023 10 (10) e2339670

From the abstract: "How can risk variation in individuals without a family history of colorectal cancer (CRC) be translated into personalized starting ages of screening? In this cohort study of 242?779 participants with no previous screening for and no family history of CRC, derivation of risk-adapted starting ages of screening used 2 major CRC risk indicators, sex and a polygenic risk score (PRS), based on the risk advancement period concept. Risk-adapted starting ages varied by as much as 24 years between men in the highest PRS decile and women in the lowest PRS decile, even among individuals at average risk. "

Multitarget Stool RNA Test for Colorectal Cancer Screening.
Erica K Barnell et al. JAMA 2023 10

From the abstract: " What is the performance of the novel multitarget stool RNA (mt-sRNA) test (ColoSense) for individuals 45 years and older undergoing colorectal cancer screening? A pivotal prospective, cross-sectional clinical trial comprising 8920 eligible participants was used to evaluate the sensitivity and specificity of the mt-sRNA test compared with a colonoscopy. The sensitivity of the mt-sRNA test for detecting colorectal cancer was 94%, the sensitivity for detecting advanced adenomas was 46%, and the specificity for no lesions on colonoscopy was 88%."

Molecular disparities in colorectal cancers of White Americans, Alabama African Americans, and Oklahoma American Indians.
Hiroshi Y Yamada et al. NPJ Precis Oncol 2023 8 (1) 79

We compared transcriptomic profiles of CRCs of Alabama AAs, Oklahoma AIs, and white people from both states. Compared to CRCs of white people, CRCs of AAs showed (a) higher expression of cytokines and vesicle trafficking toward modulated antitumor-immune activity, and (b) lower expression of the ID1/BMP/SMAD axis, IL22RA1, APOBEC3, and Mucins; and AIs had (c) higher expression of PTGS2/COX2 (an NSAID target/pro-oncogenic inflammation) and splicing regulators, and (d) lower tumor suppressor activities (e.g., TOB2, PCGF2, BAP1).

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the 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 update, 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.