The accumulation of amyloid-β precursor protein (Aβ) plaques is characteristic of both cerebral amyloid angiopathy (CAA) and Alzheimer disease (AD). Duplications of the amyloid-β precursor protein (APP) gene, which is located on 21q21.3, have been linked to early onset CAA and/or early onset AD.

Breast cancer is a highly heterogeneous disease that differs greatly between patients. As such, there is a need for new biomarker discovery that would allow for individualized diagnoses, treatments, and prognoses for breast cancer patients. In this study, the authors assessed the ability of CCND1 amplification to serve as a prognostic biomarker in breast cancer.

Among patients with breast cancer, luminal subtypes are the most common. Differences in prognosis have been demonstrated between the luminal subtypes, ranging from patients with an excellent prognosis to those who require much more aggressive treatment.

Pancreatic cancer is notorious for its rapid clinical course. It’s highly aggressive, invasive, and after metastasis, is nearly always fatal. Most patients will die within a year of diagnosis. Treatment options are limited, largely because the molecular pathways driving the disease are still unknown.

The spatial organization of the nucleus is startlingly intricate. Chromosomes occupy distinct territories, and can form complex intra- and inter-chromosomal connections. However, these associations, especially those of the inter-chromosomal variety, are still mysterious in frequency and function.

A continuous challenge for cancer researchers is conducting analyses in age groups where cases are limited. Renal cell carcinoma (RCC) is a kidney cancer that occurs in individuals of all ages, but is far more prevalent in older patients. Because of this, research on young adult and childhood RCC (in particular, morphological and genetic characterization studies) has been scant.

Uterine leiomyoma (ULM) is the most prevalent benign tumor of the female reproductive system, occurring in up to 70% of pre-menopausal women. Several different subtypes have been identified, including hydropic leiomyoma (HLM). Certain aspects of HLM’s morphology make it difficult to identify – particularly, cases with extensive hydropic change can hide features typical of leiomyoma, making diagnosis tricky.

Pediatric acute myeloid leukemia (AML) accounts for about 25% of childhood cancer cases. While survival rates have risen dramatically in the past few decades, 30% of patients still experience relapse. Fortunately, recent studies have uncovered a variety of genetic abnormalities specific to the disease that both (A) provide important hints about its pathogenic/clinical course and (B) may serve as therapeutic targets for future treatment.

We now understand that cancer is a disease rooted in genomic breakdown. But when analyzing a patient’s genome, not all mutations contribute equally to disease. Further complicating things is the fact that, even after a gene’s role in cancer development is clearly established, only certain alterations can be targeted by current therapies. Therapeutically targetable mutations, therefore, are needles in the haystack for cancer researchers – which explains the recent excitement around the NTRK gene family.

The interplay between hereditary and somatic mutations in cancer development has been a difficult relationship for oncologists to unravel. While we now know that some cancers are indeed heritable, we don’t always know to what degree. Pediatric acute lymphoblastic leukemia (ALL) is one such disease, with a well-documented but still ambiguous hereditary component. A new study out of St. Jude’s Research Hospital – Somatic and germline genomics in paediatric acute lymphoblastic leukaemia (ALL) – expanded on the complex genetics of the disease.