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21 Cards in this Set
- Front
- Back
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Lynch syndrome gene mutations |
MLH1/MSH2, MSH6, PMS2 = mismatch repair genes |
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microsatellites |
repeated sequences of non-coding DNA; length should be the same - MMR defect causes varied lengths |
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Microsatellite instability (MSI) |
15% of colon cancers are MSI high - 77% with hypermethylation of MLH1 gene (sporadic), 23% Lynch syndrome (hereditary) |
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adenoma-carcinoma sequence of FAP and HNPCC |
1) APC mutation 2) KRAS mutation 3) Smad2/4 mutation 4) p53 mutation |
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features of Lynch syndrome |
autosomal dominant; right-sided colorectal cancer; 45yo ave age onset with accelerated carcinogenesis + high risk of additional CRCs |
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most common extracolonic malignancies of Lynch syndrome |
Endometrial >>> Gastric > Urinary tract > Ovarian |
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pathology of Lynch syndrome |
poorly differentiated, excess infiltrating lymphocytes, Crohn's-like rxn, mucoid & signet-cell features; better survival than CRC |
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screening for Lynch syndrome |
colonoscopy starting at age 25 every 1-2yr before age 40 then annually + targeted screening for extracolonic cancers |
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Familial adenomatous polyposis (FAP) |
>100 adenomatous colon polyps throughout colon (often thousands); present ~16yo; APC gene (c5) mutation; need total colectomy early |
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Gardner's syndrome |
FAP + desmoid tumors, epidermoid cyst, mandible osteomas |
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Turcot syndrome |
FAP + medulloblastomas |
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brain tumor in Lynch syndrome |
gliomas |
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attenuated FAP |
APC gene mutation at end of gene; 80% risk CRC; 56yo |
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MYH polyposis |
AR form of FAP; fewer than 100 polyps, colonic microadenomas + duodenal adenomas |
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MEN type 1 |
hyperparathyroidism + pituitary tumor + pancreatic neuroendocrine (gastrinoma, insulinoma, glucagonoma, VIPoma) |
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Hereditary diffuse gastric cancer (HDGC) |
CDH1 gene mutation; stomach wall is rubbery, hard and thickened; onset ~38 yo; also see lobular breast cancer & colon cancer |
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Peutz-Jeghers |
AD mutation in STK11; multiple hamartomatous polyps in GI tract; 40% risk CRC, 29% risk gastric cancer |
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Familial atypical multiple mole melanoma syndrome (FAMMM) |
several nevi >6mm in diameter in sun-protected areas; family hx of atypical nevi & melanoma |
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Lynch syndrome vs non-hereditary CRC |
lynch has better prognosis! |
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Rx Stage II, III MSI-high |
II = no adjuvant chemo III = chemo (FOLFOX) |
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resistance to 5-FU in... |
Lynch syndrome |
