Medizinische Genetik Ι Molekulare Pathologie

Molekulare Pathologie

Humanpathogene Mikroorganismen

Humanes Papilloma Virus, HPV-Typisierung

Lyme-Borreliose
(Borrelia burgdorferi sensu lato)

Onkologie

Adenomatoöse Polyposis Coli APC
(APC-Gen, MIM *175100)

Brustkrebs, familiär
(BRCA1-Gen, MIM *113705; BRCA2-Gen, MIM +600185; Tumorsuppressor-Gene p53, TP53, MIM *191170)

Carney-Komplex Typ 1
(PRKAR1A-Gen, MIM *188830)

Cowden Syndrom
(PTEN-Gen, MIM *601728)

E-Cadherin (CDH1)

Familiärer isolierter Hyperparathyreoidismus, FIHP
(HRPT2-Gen, MIM *602393; MEN1-Gen, MIM *131100; HRPT3, MIM %610071; CASR-Gen, MIM +601199)

Familiäre isolierte Somatopinome, GH sezernierende Hypophysenadenome
(Aryl Hydrocarbon Receptor Interacting Protein, AIP-Gen, MIM *605555)

Hereditäres non-polyposis Colon-Carcinom, Lynch-Syndrom, HNPCC
(MSH2-Gen, MIM *609309; MLH1-Gen, MIM *120436; MSH6-Gen, MIM *600678; MLH3-Gen, MIM *604395; PMS1-Gen, MIM *600258; PMS2-Gen, MIM *600259; TGFBR2-Gen, MIM *190182)

Jaw Tumor Syndrom
(HRTP2, Parafibromin-Gene, MIM *607393)

Li Fraumeni-Syndrom
(Tumorsuppressor-Gene p53, TP53, MIM *191170)

Mikrosatelliten Instabilität, MSI

Multiple endokrine Neoplasie Typ 1
(MEN 1-Gen, MIM *131100)

Multiple endokrine Neoplasie Typ 2A and 2B
(RET-Proto-Onkogen,
MIM +164761)

Multiple endokrine Neoplasie Typ 4
(CDKN1B-Gen, MIM *600778)

Multiple Phäochromozytome, Paragangliom
(PGL1, Succinat Dehydrogenase Subunit D, SDHD-Gen, MIM *602690; PGL3, Succinat Dehydrogenase Subunit C, SDHC-Gene, MIM *602413; PGL4, Succinat Dehydrogenase Subunit B, SDHB-Gene, MIM *185470)

Neurofibromatose Typ 1
(Neurofibromin-Gen, NF1-Gen, MIM +162200)

Peutz-Jeghers Syndrom
(intestinale polypöse Hamartome, Serine/Threonine Proteinkinase 11-Gen, PJS, MIM *602216)

Von Hippel-Lindau-Syndrom
(VHL-Gen, MIM *688537)

Chemotherapie (Toxizität)

CYP2C8
(Paclitaxel-Therapie), Cytochrom p450 2C8, MIM *601129

CYP2D6
(Tamoxifen-Therapie), Cytochrom p450 2D6, MIM +124030

DPYD
(5-FU-Therapie), Dihydropyrimidindehydrogenase, MIM +274270

MTHFR
(Methotrexat-Therapie, Methyltetrahydrofolatreduktase, MIM +236250

TPMT
(Azathioprin-Therapie), Thiopurin-S-Methyltransferase, (MIM *187680)

UGT1A1
(Irinotecan-Therapie), UDP-Glycosyltranferase 1, MIM *191740