name that assay
this targeted assay detects "hotspot" mutations and has sensitivity down to <5-10% of the tumor
what is allele-specific PCR
also: single base extension, digital droplet PCR
this mutation results in a fusion gene which is found in 95% of Chronic Myeloid Leukemia patients
what is a philedelphia chromosome/translocation (fusion gene is BCR-ABL)
genetic testing is primarily beneficial to those whose family history is classified as this type of cancer
what is hereditary cancer
an individual has no family history of cancer but has a personal medical hx of sarcoma @26, breast cancer @29, and lung cancer @31. They are most likely to have this cancer syndrome and associated mutated gene.
what is li fraumeni (TP53)
breast cancer screening starts at this age instead of the usual 40 years for a woman with HBOC
what is 25 years (clinical breast exam every 6-12 months and annual MRI with contrast)
increasingly, clinicians are turning to this assay for identifying hereditary cancer syndromes
name the 3 categories of genes that cause cancer when mutated
what are oncogenes/proto-oncogenes, tumor suppressor genes, DNA repair genes
this is the first step to classifying a family history of cancer
what is ... taking a 3-4 generation pedigree
this hereditary cancer syndrome accounts for 80% of all hereditary colon cancers... another 15% is from this other syndrome.
Lynch syndrome, FAP
this is the recommended med management for males with HBOC to reduce prostate cancer risk
consider annual PSA, possible digital rectal exam, starting at age 40 (annual)
this assay is helpful for detecting and quantifying fusion transcripts produced by chromosomal translocations - it can also be used to monitor residual disease in patients undergoing cancer therapies
what is quantitative real-time PCR (qPCR)
a mutation in both copies of this gene causes retinoblastoma
these factors may warrant ruling out an inherited cancer syndrome in individuals regardless of family history
what are women with ovarian cancer or metastatic breast cancer, pancreatic cancer, males with breast cancer, tumor test showing a mutation in a predisposition gene
mutations in this gene are known to cause Classic and Attenuated Familial Adenomatous Polyposis
what is the APC gene
this surgery is offered to women with a BRCA1 mutation by age 35-40 (40-45 with BRCA2) to reduce their risk of ovarian cancer by 90-95%
what is a risk-reducing bilateral salpino-oopherectomy
this assay has high sensitivity and is ideal for patients who have little tumor available for testing, but it is expensive and involves complex data analysis
what is NGS
mutations in this gene are involved in 52% of all hereditary breast cancers
what is BRCA1
these 5 cancers may appear in a family history with a BRCA1/2 mutation
what are breast, ovarian, prostate, pancreatic cancer, and melanoma
this is the most common cancer of female reproductive organs, but only 2-5% are hereditary
what is endometrial cancer
this autosomal recessive polyposis condition has a median age colon cancer diagnosis greater than 50 yr, but colonoscopies are recommended starting at this age range.
MUTYH; 25-30 years old (every 2-3 years)
you would choose this assay to compare gene expression in a tumor sample to a normal tissue or another tumor type
what is a gene expression microarray
mutations in this gene are known to be associated with Li Fraumeni syndrome
what is TP53
when you see these cancers in a family history, this hereditary cancer syndrome should be in your differential:
breast, thyroid, endometrial, renal, colorectal, melanoma
what is Cowden Syndrome (PTEN Hamartoma Tumor Syndrome)
these 5 genes are associated with Lynch syndrome
what are MLH1, MSH2, MSH6, PMS2, and EPCAM
this is the recommended screening protocol for individuals with increased risk of endometrial cancer (4 steps)
what is - educate on signs and symptoms; consider screening by endometrial biopsy; hysterectomy; transvaginal ultrasound screening post-menopause