buzz word examples

tumor suppressor gene inactivation

retinoblastoma

oncogene activation by chromosomal translocation

chronic myeloid leukemia

oncogene amplification in breast cancer

HER2/NEU

most common cause of heredity colorectal cancer

lynch syndrome

somatic colon cancer mutation (associated with MSI and CpG island)

*methylated MLH1 promoter mutation

BRAF and CRC

another common cause of hereditary colorectal cancer

FAP

- Autosomal recessive inheritance

*milder FAP

- 2 common mutations (Y179C and G382D)

MUTYH associated polyposis (MAP)

causes of hereditary breast cancer

BRAC1, BRACA2, TP53, PTEN

increases risk for breast and ovarian cancer in BRAC1 or 2 genes

hereditary breast and ovarian cancer syndrome (HBOC)

breast (male and female)

ovarian

*possibly prostate

BRCA 1 associated cancers

breast (male and female)

ovarian

*maybe pancreatic, melanoma, laryngeal

BRCA 2 associated cancers

aggressive type of breast cancer correlated inc risk with mutations in BRCA 1 and 2

triple negative breast cancer

homozygous for mutations in BRCA2

Fanconi anemia

Partner and localizer of BRCA2, risk for breast cancer and pancreatic cancer higher

homozygous mutations: Fanconi Anemia

PALB2

PTEN gene

*inc risks for breast, thyroid, endometrical, renal, colon

cowden syndrome

TP 53 gene mutation

li-fraumeni syndrome

CDKN2A and CDK 4

familial melanoma

gain of function mutation in RET protooncogene

multiple endocrine neoplasia

IRF6 mutation

autosomal dominant

van der woude syndrome

CT disorder

autosomal dominant

mutation in COL2A1

stickler syndrome

congenital heart disease with CP

22q11.2

clinical features: some paralysis of lower extremities, difficulty control bowel and bladder hydrocephalus, normal intellect in 70%

spina bifida