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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: Dec 04, 2021
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Studies Focus on Testing Family Members of Cancer Gene Carriers
NCI, November 2021

NCI released a funding opportunity to test a “traceback” strategy, where researchers are finding the women who were previously diagnosed with ovarian cancer, communicating with them (or with their family members if they have died), and offering genetic testing. Traceback is a unique approach to genetic testing because the idea is to work backwards and find previously diagnosed cases to test to improve the detection of families at risk. Three grants using different approaches for traceback testing were funded for 4 years; projects are expected to be completed in 2023. The overall goal is to evaluate the best way to communicate sensitive genetic information to ovarian cancer patients and their immediate family members. Challenges associated with privacy laws and ethical concerns, differences in cultural traditions, and medical literacy are taken into account.

Germline breast cancer susceptibility genes, tumor characteristics, and survival
PJ Ho et al, Genome Medicine, December 2, 2021

Mutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility genes on tumor characteristics and survival in 8852 breast cancer patients of Asian descent. We found that PTV9genes carriership is associated with more aggressive tumors. Variants in other genes might be associated with the survival of breast cancer patients.

A polygenic risk score for multiple myeloma risk prediction.
Canzian Federico et al. European journal of human genetics : EJHG 2021 11

Using 2361 MM cases and 1415 controls from the International Multiple Myeloma rESEarch (IMMEnSE) consortium, we computed a weighted and an unweighted PRS. We observed associations with MM risk with OR?=?3.44, 95% CI 2.53–4.69, p?=?3.55?×?10-15 for the highest vs. lowest quintile of the weighted score, and OR?=?3.18, 95% CI 2.1?=?34–4.33, p?=?1.62?×?10-13 for the highest vs. lowest quintile of the unweighted score. We found a convincing association of a PRS generated with 23 SNPs and risk of MM.

Insights Into Immune-Mediated Disease and Cancer Risk-Delivering on the Promise of UK Biobank Big Data.
Stewart Douglas R et al. JAMA oncology 2021 12

Large, longitudinal data sets derived from the electronic health records are powerful tools for discovery. A recent study extracted from the big data provided by the UK Biobank clinically and scientifically useful insights and estimates of cancer risk associated with immune-mediated disease.

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Anderson Eric C et al. BMC cancer 2021 21(1) 1273
Considerations on the identification and management of metastatic prostate cancer patients with DNA repair gene alterations in the Canadian context. External Web Site Icon
Kolinsky Michael P et al. Canadian Urological Association journal = Journal de l'Association des urologues du Canada 2021
Construction and validation of a novel aging-related gene signature and prognostic nomogram for predicting the overall survival in ovarian cancer. External Web Site Icon
Liu Lixiao et al. Cancer medicine 2021
Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol. External Web Site Icon
Kauffman Tia L et al. Journal of personalized medicine 2021 11(11)
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