Amsterdam Criteria II There should be at least three relatives with an HNPCC-associated cancer (CRC, cancer of the endometrium, small bowel, ureter, or renal pelvis) One should be a first-degree…
Figure 12.1 FGFR-associated syndromic conditions Table 12.1 FGFR1, –2, and –3 genes Gene OMIM Chromosomal location Gene organization FGFR1 *136350 8p11.23-p11.22 18 exons, 17 coding FGFR2 *176943 10q26.13 18 exons,…
Tumor type Heritable retinoblastoma Nonheritable retinoblastoma Eyes affected Bilateral in 90–95 % of cases Unilateral in 100 % of cases Unilateral in remaining cases Age of onset Usually < 1…
Figure 32.1 Approximate prevalence of identified “driver mutations” in unselected pulmonary adenocarcinoma. While many of these alterations are typically seen in isolation, others, such as PIK3CA, are often seen concurrently…
Marker Indication 1p/19q deletion Oligodendroglioma diagnosis and prognosis Prediction of oligodendroglioma therapeutic response Confirmation of an oligodendroglial component in oligoastrocytomas MGMT promoter methylation Response of glioblastoma to alkylating drugs (temozolomide)…
Figure 4.1 Common pedigree symbols, definitions, and abbreviations. From Bennett R, French K, Resta R, Doyle D. Standardized human pedigree nomenclature: update and assessment of the recommendations of the national…
Virus: RTI and CAP Bacteria: RTI and CAP Bacteria: VAP and HAP Adenovirus (ADV) Bordetella pertussis and Bordetella parapertussis Acinetobacter spp., Human bocavirus (HBoV)a Chlamydophila pneumoniae Corynebacterium spp. Coronavirus (CoV)…
ABL1 EGFR GNAQ KRAS PTPN11 AKT1 ERBB2 GNAS MET RB1 ALK ERBB4 HNF1A MLH1 RET APC EZH2 HRAS MPL SMAD4 ATM FBXW7 IDH1 NOTCH1 SMARCB1 BRAF FGFR1 IDH2 NPM1 SMO…
Predicted CYP2D6 metabolism phenotype Implications for codeine metabolism Therapeutic recommendations Ultrarapid metabolizer (UM) Increased formation of morphine following codeine administration, leading to higher risk of toxicity Avoid codeine use due…
Gene symbol Gene product Chromosomal location Key information Definitive disease-causing genes (causative mutations of early onset Alzheimer disease ) APP (AD1) Amyloid precursor protein 21q21.3 Autosomal dominant, 25 pathogenic mutations,…
