3rd Place

 

Hannah Mayr

Frankfurt International School

Teacher: Liza Gorkiewicz

 

 

The Project's successful completion in 2003 marked the emergence and recognition of a much lesser-known area of study, and yet one of great significance to humanity: the field of oncogenomics, the combined study of oncology and genetics. The roots of cancer lie within our DNA, and "the altered cancer genome is the direct cause of disease and precisely defines the tumor phenotype" (Strausberg), which makes the impact of the HGP on oncology one of the most significant in terms of clinical application.


In 2008, a team of scientists around Timothy Ley achieved a landmark breakthrough in oncogenomics by isolating the first full genomic sequence of a cancer: acute myeloid leukemia (Strausberg). Ley et al. sequenced and compared a single AML patient's cancerous genome to their unaffected skin genome and found a total of ten somatic single nucleotide variants - eight of which had not been previously known to be involved in the disease, despite their location within gene families that are commonly associated with carcinogenesis (Ley). After further analysis it was found that nine of the ten variants were present in virtually every cancerous cell that was analyzed both during the initial sequencing and after a second relapse sequencing eleven months later.


With these findings, fascinating connections began to emerge. In 2002, for instance, a group of researchers at the Helix Research Institute in Japan investigated the function of PCLKC - a protocadherin protein named for its prevalence in liver, kidney and colon tissues - and its supposed effect on tumor suppression. It was found that "the expression of Protocadherin LKC is markedly reduced in cancers arising from these tissues" (Okazaki). Six years later, PCLKC reappeared as one of the variants in Ley et al.'s study. The findings are elegantly consistent: a tumor suppressor that is present in a reduced or mutated state in cancerous tissues.