1st Place

 

Stella Ma

James Madison Memorial High School

Teacher: Ms. Cindy Kellor

 

 

Hereditary breast cancer susceptibility is associated with mutations in multiple genes of varying penetrance (Llort et al., 2015). Germline mutations in the high penetrant genes BRCA1 and BRCA2 (BRCA1/2) account for 25-28% of hereditary cases, as BRCA1/2 genes produce tumor-suppressor proteins involved in DNA repair, maintaining genomic stability (Larsen et al., 2014)...

...Breast cancers associated with BRCA1/2 mutations tend to be far more aggressive than sporadic cases (Larsen et al., 2014), and tend to be earlier onset, 40-50 years of age on average, the earliest onset during late twenties (Litton et al., 2012). This raises the controversy of whether adolescents (with family histories) should be tested for the BRCA1/2 mutations...


...For mutations previously identified in a family, the specific regions on the genes are amplified by polymerase chain reaction (PCR), followed by DNA sequencing. For unknown mutations, the entire regions of BRCA1/2 genes are screened by long-range PCR (PCR products longer than 5kb) and deep sequencing, which involves generating amplicons (several long PCR products covering the entire BRCA1/2 genes), constructing sequencing libraries by pooling the amplicons, and DNA sequencing. The resulting sequences are compared to the reference sequences catalogued in the NCBI GenBank; if the mutations match those previously associated with breast cancer, test results are positive (Ozcelik et al., 2012)...


...Pre-dispositional genetic testing for adolescents appears to be controversial. If adolescents are tested and results are positive, it can cause emotional trauma and/or depression, but as no symptoms are expressed during adolescence, testing is theoretically unnecessary until adulthood (Maloney et al., 2014). However, with prior knowledge of their family’s breast cancer history, adolescents may prefer full knowledge of their risk to uncertainty (Cappelli et al., 2005).