Publications by authors named "Samantha Serrao"

2 Publications

  • Page 1 of 1

RRM2B Is Frequently Amplified Across Multiple Tumor Types: Implications for DNA Repair, Cellular Survival, and Cancer Therapy.

Front Genet 2021 12;12:628758. Epub 2021 Mar 12.

Cancer Prevention and Control Program, Fox Chase Cancer Center, Philadelphia, PA, United States.

plays a crucial role in DNA replication, repair and oxidative stress. While germline mutations have been implicated in mitochondrial disorders, its relevance to cancer has not been established. Here, using TCGA studies, we investigated alterations in cancer. We found that is highly amplified in multiple tumor types, particularly in -amplified tumors, and is associated with increased mRNA expression. We also observed that the chromosomal region 8q22.3-8q24, is amplified in multiple tumors, and includes , along with several other cancer-associated genes. An analysis of genes within this 8q-amplicon showed that cancers that have both -amplified along with have a distinct pattern of amplification compared to cancers that are unaltered or those that have amplifications in or only. Investigation of curated biological interactions revealed that gene products of the amplified 8q22.3-8q24 region have important roles in DNA repair, DNA damage response, oxygen sensing, and apoptosis pathways and interact functionally. Notably, -amplified cancers are characterized by mutation signatures of defective DNA repair and oxidative stress, and at least -amplified breast cancers are associated with poor clinical outcome. These data suggest alterations in RR2MB and possibly the interacting 8q-proteins could have a profound effect on regulatory pathways such as DNA repair and cellular survival, highlighting therapeutic opportunities in these cancers.
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http://dx.doi.org/10.3389/fgene.2021.628758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8045241PMC
March 2021

Exploring Asian Indian views about cancer and participation in cancer research: an evaluation of a culturally tailored educational intervention.

J Community Genet 2020 Apr 14;11(2):193-203. Epub 2019 Sep 14.

Division of Population Science, Department of Medical Oncology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, 19107, USA.

Asian Indians (AIs) are a growing population in the United States (US) with increased cancer incidence and mortality. However, screening rates among this population are low, and the population has been underrepresented in clinical research. This pilot study aims to address gaps in the literature in order to understand if a culturally tailored educational intervention will improve knowledge, risk perceptions, and awareness of cancer risk assessments among AIs. We delivered an educational intervention comprised of culturally tailored case studies describing risk factors for developing cancer in both males and females. We assessed knowledge gaps about cancer risk and genetic testing, cancer risk perceptions, and willingness to participate in medical research studies, pre- and post-intervention. Among 23 participants, knowledge of genetic testing use and screening recommendations significantly improved post-intervention, with increased willingness to discuss cancer with family members, participate in medical research, and undergo genetic testing for cancer risk assessment. However, findings at the 1-month follow-up time did not show significant changes, except for one knowledge item. Culturally tailored educational interventions, delivered in a community setting, can influence knowledge and risk perceptions about cancer risk and genetics among AIs. Our findings lay the groundwork to continue educational efforts in the area of cancer risk and genetic testing in the AI population, a growing population that has been understudied in the US.
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http://dx.doi.org/10.1007/s12687-019-00436-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7062964PMC
April 2020
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