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Cancer PHGKB

Specific PHGKB|Cancer|PHGKB
Last Posted: May 13, 2021
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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
M Tishkowitz et al, Genetics in Medicine, May 11, 2021

PALB2 heterozygotes should be offered BRCA1/2-equivalent breast surveillance. Risk-reducing mastectomy can be considered guided by personalized risk estimates. Pancreatic cancer surveillance should be considered, but ideally as part of a clinical trial. Typically, ovarian cancer surveillance is not recommended, and risk-reducing salpingo-oophorectomy should only rarely be considered before the age of 50. Given the mechanistic similarities, PALB2 heterozygotes should be considered for therapeutic regimens and trials as those for BRCA1/2.

Evaluation of BRCA1 and BRCA2 as Indicators of Response to Immune Checkpoint Inhibitors
Z Zhou et al, JAMA Network Open, May 7, 2021

The findings of this cohort study suggest that BRCA2 alteration in combination with TMB was a potential biomarker associated with response to ICIs. BRCA1/2 altered tumors have shown enhanced immunosurveillance in several preclinical studies, but their correlation with ICI treatment outcomes remains uncharacterized

Risk of colorectal cancer in first degree relatives of patients with colorectal polyps: nationwide case-control study in Sweden
M Song et al, BMJ May 2021

After adjusting for family history of CRC, the siblings and children of patients with colorectal polyps are still at higher risk of CRC, particularly early onset CRC. Early screening for CRC might be considered for first degree relatives of patients with polyps.

AI to expand the reach of oncology trials- Data-driven clinical trial simulation could help to optimize inclusion criteria
Nature Medicine, April 29, 2021

Defining eligibility criteria for oncology trials involves a balance, weighing the necessity for patient safety against the desire for generalizable results relevant to real-world patients. However, certain trial exclusion criteria may be unnecessarily restrictive. Artificial intelligence allows for prediction of clinical outcomes-based hypothetical scenarios.

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