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Paths to Defective Homologous Recombination DNA Repair in Breast Cancer. Each individual mutation or epigenetic aberration

Each individual mutation ... However, when these mutations ... BreastCancer #DNARepair #NEJM

Classes of Mutations in the Gene Encoding Cystic Fibrosis Transmembrane Conductance Regulator (CFTR). Depending on the

Classes of Mutations ... molecular defect, CFTR mutations ... Other mutations ... CysticFibrosis #Mutations ... ModulatorTherapy #NEJM

VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) Syndrome
Clinical Syndrome:
• Common Clinical Features: alveolitis, ear and

Features: • somatic mutations ... ubiquitylation • mutations ... myeloid cells NEJM

Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA

A homozygous mutation ... calcifications #infant #NEJM

Hemolysis in Hereditary Spherocytosis. Panel A shows the structure of a normal red cell and a

Gene mutations of ... HereditarySpherocytosis #NEJM

Diagnostic Algorithm for Non–Small-Cell Lung Cancer (NSCLC). The upper portion of the algorithm shows the morphologic

and BRAF V600E mutations ... #NSCLC #PDL1 #NEJM

Distal Renal Tubular Acidosis
Distal RTA is the true Nephrogenic RTA and can be truly divided into

defect - Mutations ... ATPase - AEI mutations ... defect - ENaC mutation ... - SCNN mutation ... HTN (WNKI and 4 mutations

Bilateral Vestibular Schwannomas in Neurofibromatosis Type 2- ...Magnetic resonance imaging of the brain performed after the

which is caused by mutations ... #NEJM #clinical

Polycythemia vera, Essential thrombocythemia, Primary myelofibrosis Diagnosis Algorithm
• Polycythemia vera → Blood JAK2 mutation screening

vera → Blood JAK2 mutation ... thrombocythemia → Blood mutation ... marrow biopsy with mutation

Marfan Syndrome - Signs and Symptoms

- Caused by mutations in the fibrillin-1 (FBN1) Gene (chromosome 15)
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- Caused by mutations

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