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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: Jun 02, 2023
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Summary for Patients: Population Genomic Screening for Three Common Hereditary Conditions.
et al. Ann Intern Med 2023 5 (5) I19

Patients who have certain genetic test results are at higher risk for diseases that may be preventable. There is ongoing debate about whether physicians should screen for 3 hereditary conditions: Lynch syndrome (at greater risk for colon cancer), hereditary breast and ovarian cancer, and familial hypercholesterolemia (at greater risk for early heart disease and stroke). This modeling study found that screening for these 3 hereditary conditions is likely cost-effective in U.S. adults younger than 40 years if the testing cost is relatively inexpensive and people have access to preventive care.

Estimating clinical risk in gene regions from population sequencing cohort data.
James D Fife et al. Am J Hum Genet 2023 5

While pathogenic variants can significantly increase disease risk, it is still challenging to estimate the clinical impact of rare missense variants more generally. Even in genes such as BRCA2 or PALB2, large cohort studies find no significant association between breast cancer and rare missense variants collectively. Here, we introduce REGatta, a method to estimate clinical risk from variants in smaller segments of individual genes.

Genetically adjusted PSA levels for prostate cancer screening.
Linda Kachuri et al. Nat Med 2023 6

In this study, we discovered 128 genome-wide significant associations (P?<?5?×?10-8) in a multi-ancestry meta-analysis of 95,768 men and developed a PSA polygenic score (PGSPSA) that explains 9.61% of constitutive PSA variation. Genetically adjusted PSA was more predictive of aggressive prostate cancer (odds ratio (OR)?=?3.44, P?=?6.2?×?10-14, area under the curve (AUC)?=?0.755) than unadjusted PSA (OR?=?3.31, P?=?1.1?×?10-12, AUC?=?0.738) in 106 cases and 23,667 controls. Compared to a prostate cancer PGS alone (AUC?=?0.712), including genetically adjusted PSA improved detection of aggressive disease (AUC?=?0.786, P?=?7.2?×?10-4). Our findings highlight the potential utility of incorporating PGS for personalized biomarkers in prostate cancer screening.

Prediction of breast cancer risk for sisters of women attending screening.
Xinhe Mao et al. J Natl Cancer Inst 2023 5

We included 53,051 women from the KARMA study. Established risk factors were derived using self-reported questionnaires, mammograms, and SNP genotyping. Using the Swedish Multi-Generation Register, we identified 32,198 sisters of the KARMA women. We found that a higher breast cancer polygenic risk score, a history of benign breast disease, and higher breast density in women were associated with an increased risk of breast cancer for both women and their sisters.

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