St. Jude Medical Center

About: St. Jude Medical Center is a healthcare organization based out in Fullerton, California, United States. It is known for research contribution in the topics: MEDLINE & Breast cancer. The organization has 93 authors who have published 150 publications receiving 13717 citations.

Suggested application of HER2 breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines.

Abstract: Early onset breast cancer is the most common malignancy in women with Li-Fraumeni syndrome, caused by germline TP53 pathogenic variants. It has repeatedly been suggested that breast tumors from TP53 carriers are more likely to be HER2+ than those of noncarriers, but this information has not been incorporated into variant interpretation models for TP53. Breast tumor pathology is already being used quantitatively for assessing pathogenicity of germline variants in other genes, and it has been suggested that this type of evidence can be incorporated into current American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for germline variant classification. Here, by reviewing published data and using internal datasets separated by different age groups, we investigated if breast tumor HER2+ status has utility as a predictor of TP53 germline variant pathogenicity, considering age at diagnosis. Overall, our results showed that the identification of HER2+ breast tumors diagnosed before the age of 40 can be conservatively incorporated into the current TP53-specific ACMG/AMP PP4 criterion, following a point system detailed in this manuscript. Further larger studies will be needed to reassess the value of HER2+ breast tumors diagnosed at a later age.

Why N95 Should Be the Standard for All COVID-19 Inpatient Care.

Abstract: Guidelines differ in their guidance on the use of N95 respirators versus medical masks for frontline health care workers working with patients with COVID-19, particularly when aerosolized procedure