Term
| cancers in heretidary breast ovarian cancer syndrome |
|
Definition
| breast, ovary, pancreatic, prostate, melanoma |
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|
Term
| cancers in lynch syndrome |
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Definition
| ovarian, endometrial, colon, gastric, small bowel, ureter, hepatobiliary, pancreatic, glioblastoma, renal pelvis, (potential breast, brain, sebaceous cyst) |
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|
Term
| cancers in li-fraumeni syndrome |
|
Definition
| postmenopausal breast, colon, sarcomas, brain, adenocortical, osteosarcoma, adenocarcinoma, leukemeia, lymphoma |
|
|
Term
| cancers in cowden syndrome |
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Definition
| breast, endometrial, colon, thyroid, GI harmatomas |
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|
Term
| cancers in peutz-jaeger syndrom |
|
Definition
| breast, ovarian sex cord stromal, colon cervical adenoma malignum, uterine, GI harmatomas, pancreatic, gastric, small bowel, lung |
|
|
Term
| cancers in hereditary diffuse gastric cancer syndrome |
|
Definition
| lobular breast, diffuse gastric, colorectal |
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|
Term
|
Definition
| testing of blood relatives of someone with identified mutation, cost effective, provide referral to all given patient permission |
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|
Term
| BRCA 1 - lifetime risk of cancer, risk of ovarian, breast cancers - and most common type of each |
|
Definition
lifetime 40%
ovarian 40% - high grade endometroid
breast 60% - triple negative |
|
|
Term
| BRCA 2 - lifetime risk of cancer, risk of ovarian, breast cancers - and most common type of each |
|
Definition
lifetime 20%
ovarian 20% - high grade endometroid
breast 50% - ER/PR positive |
|
|
Term
| risks for men with BRCA mutations |
|
Definition
BRCA 2 - risk of prostate cancer 7%, male breast cancer risk
BRCA 1 - no high risks |
|
|
Term
| which chromosomes are the BRCA genes located |
|
Definition
|
|
Term
| what kind of gene is BRCA |
|
Definition
| autosomal dominent DNA repair gene |
|
|
Term
|
Definition
| personal history of breast cancer and ovarian/tube/peritoneal cancer, close relative with these cancers, Ashkenazi Jewish, close relative with BRCA, breast cancer <45-50yo, close relative with male breast cancer |
|
|
Term
| who should get repeat BRCA testing |
|
Definition
| tested before 2009 - need BRCA rerrangement testing |
|
|
Term
| BRCA is associated with this % of ovarian, epithelial ovarian, and breast cancers |
|
Definition
ovarian 20%
epithelial ovarian 20%
breast 4.5% |
|
|
Term
|
Definition
comprhensive gene sequencing - no family history
targeted single site - known exact family gene
targeted multi site - risk of founder mutation (ethnicity)
BRCA rearrangement testing - had testing before 2009 |
|
|
Term
| types of BRCA testing results |
|
Definition
true positive: detected
true negative: not detected, must have relatives with known varient
uniformative negative: no BRCA, but inconclusive based on general testing limitations, no information about family mutation
Varient of uncertian significance: abnormal BRCA but unknown if associated with cancer |
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|
Term
| women with BRCA 1 and 2 have this % risk of ovarian cancer if they have breast cancer |
|
Definition
|
|
Term
| BSO reduces ovarian and breast cancer risk in BRCA by % |
|
Definition
| 90% ovarian and 50% breast |
|
|
Term
| remaining risk of primary peritoneal cancer after BSO in BRCA |
|
Definition
|
|
Term
| age recommended for BSO in BRCA |
|
Definition
1 - 35-40yo
2 - ovarian cancer rare before 50yo, discuss |
|
|
Term
| if patient chooses against BSO in BRCA how do you screen |
|
Definition
| TVUS, exam, CA125 yearly, OCPs protective |
|
|
Term
| technique for BSO in BRCA |
|
Definition
| at least 2cm of IP, uteroovarian ligament as close to uterus as possible, only send frozen if clinical suspicious, complete serial sectioning, pelvic washings |
|
|
Term
| why do hyst in BRCA patients |
|
Definition
| simplifying adjuvant hormone therapy, decreased risk of endometrial cancer with tamoxifen, patient preference, theoretical risk of endometrial cancer in BRCA 1, think it puts risk of ovarian cancer <1% |
|
|
Term
| how much do OCPs reduce risk of ovarian cancer in BRCA |
|
Definition
1y 30-80% BRCA1 60% BRCA2
5y 30% BRCA 1 50% BRCA 2
10y 50% |
|
|
Term
| how much does tamoxifen reduce breast cancer in BRCA |
|
Definition
| only benifits BRCA 2 (BRCA 1 usualy triple negative), reduces 62%, contralateral reduction 50% |
|
|
Term
| how much does bilateral mastectomy reduce breast cancer risk in BRCA |
|
Definition
|
|
Term
| what is the risk of surgical complication in prophylactic bilateral mastectomy |
|
Definition
surgical 3-60% - infection, hematoma, necrosis, failed reconstruction
post-surgical 75% - pain, numbness, swelling, hardening |
|
|
Term
| breast surveillence in BRCA patients |
|
Definition
annual mammogram and MRI alternating q6mo
start 25-30yo, 25yo for MRI, 30yo for mammoram |
|
|
Term
| how well does breast screening for BRCA patients reduce their risk of breast cancer / early detection |
|
Definition
|
|
Term
| what is the screening for ovarian cancer in BRCA |
|
Definition
| CA125 and TVUS q6mo after 35yo until risk reducing surgery - contriversial, does not show to improve survival |
|
|
Term
| what is the screening for BRCA after BSO |
|
Definition
| breast screening as indicated, yearly well woman exams, educated on symptoms of primary peritoneal cancer |
|
|
Term
| what percent of endometrial and colorectal cancer patients have lynch syndrome |
|
Definition
endometrial - 5%
colorectal - 2% |
|
|
Term
| pathogenesis of lynch syndrome |
|
Definition
Autosomal dominant
overexpression of mismatch repair genes (MSH 1, 2, 6), PMS2, ECAM (inactivates MSH2) |
|
|
Term
| types of diagnostic testing for lynch syndrome |
|
Definition
direct germline DNA testing - looks for rerrangement of mismatch repair genesis, cannot exclude lynch if negative
microsatellite instability testing - done on the tumor, no instability rules out lunch
immunohistochemistry - detects mismatch repair protein gene products, if all 4 proteins present lynch ruled out, done on the tumor tissue. if not ruled out then do promotor testing on MLH1, if MLH1 protein is absent and there is MLH1 promoter methylation lynch is ruled out, if the promoter is absent do germline DNA testing |
|
|
Term
| germline DNA testing misses how much lynch syndrome |
|
Definition
| 15%, missense mutations likley |
|
|
Term
| who to screen for lynch syndrome - bethesda |
|
Definition
colorectal cancer <50yo, with a lynch associated cancer, or with MSI <60yo
colorectal cancer and lynch caner in 1st deg relative <50yo
colorectal cancer and l ynch cancer in 2+ 1-2 deg relatives |
|
|
Term
| who to screen for lynch syndrome - ansterdam |
|
Definition
2 colorectal cancers in 1deg relatives in 2 generations
2+ 1 deg relatives with colorectal cancer and a relative with early onset cancer |
|
|
Term
| risk of colorectal, endometria, ovarian, gastric, urinary cancers in lynch compared to general population |
|
Definition
colorectal 2 -> 60%
endometrial 3 -> 60%
ovarian 1 -> 10%
gastric ? -> 15%
urinary ? -> 5% |
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|
Term
| colon screening in lynch syndrome |
|
Definition
| colonoscopy q1-2y starting at 20-25yo or 2-5y before first family diagnosis |
|
|
Term
| endometrial screening in lynch syndrome |
|
Definition
| EMBX and TVUS q1-2y starting at 30-35yo |
|
|
Term
| gastric cancer screening in lynch syndrome |
|
Definition
|
|
Term
| urinary cancer screening in lynch syndrome |
|
Definition
|
|
Term
| preventive surgery in lynch syndrome |
|
Definition
| HS/BSO after childbearing or 40-45yo |
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|
Term
| effectiveness of risk reduction surgery in lynch syndrome |
|
Definition
| no reported cancers after HS/BSO, still 1% risk primary peritoneal cancer |
|
|
Term
| preventive medication in lynch syndrome |
|
Definition
| progesterone based contraception - only depo provera and 30/0.3mg ethinyl estradiol / noregestrol were studied |
|
|
Term
| cause of li-fraumini syndrome |
|
Definition
| autosomal dominant TP53 mutation in 70% of patients diagnosed |
|
|
Term
|
Definition
| PTEN mutation (involved in cell cycle control), autosomal dominant |
|
|
Term
| rate of breast, endometrial, colon cancers in cowden syndrome |
|
Definition
breast - 25-50%
endometrial - 5-10%
colon - 10% |
|
|
Term
| benign symptoms associated with cowden syndrome |
|
Definition
| macrocephaly, papillomatous papules of the face and mucous membranes |
|
|
Term
| cause of peutz-jegher syndrome |
|
Definition
| autosomal dominant, serine/threonine kinase 11 mutation (STK11) |
|
|
Term
| diagnostic criteria peutz-jegher syndrome |
|
Definition
2+ harmatomatous polyps of GI tract
OR
mucocutaneous hyperpigmentations of lips, nose, mouth, eyes, genitalia, fingers
OR
family history of the syndrome |
|
|
Term
| lifetime risk of breast cancer in peutz-jehger syndrome |
|
Definition
|
|
Term
| cause of hereditary diffuse gastric cancer syndrome |
|
Definition
|
|
Term
| BRCA accounts for this % of triple negative breast cancer |
|
Definition
|
|
Term
| BRCA accounts for this % of epithelial ovarian cancer |
|
Definition
|
|
Term
| these 4 conditions have a 25% risk of BRCA |
|
Definition
| personal history of breast and ovarian/peritoneal CA, close relative with BRCA, breast/ovary CA <50yo and relative with breast/ovary cancer, breast/ovary cancer <40yo and Jewish |
|
|
Term
| these 3 conditions have a 10% risk of BRCA |
|
Definition
| breast cancer <40yo, ovary/peritoneal cancer at any age, close relative meeting criteria for 25% risk of BRCA |
|
|
Term
| what specific gene portion in BRCA further increases the risk of breast cancer |
|
Definition
|
|
Term
| what syndromes have increased breast cancer - 5 |
|
Definition
| BRCA, li-frau, cowden, peutz, hereditary gastric |
|
|
Term
| what syndromes have increased ovarian cancer - 3 |
|
Definition
| BRCA, lynch, peutz (sex cord) |
|
|
Term
| what syndromes have increasesd endometrial cancer - 3 |
|
Definition
|
|
Term
| which syndromes have increased colon cancer |
|
Definition
| all of them except for BRCA |
|
|
Term
| which syndromes have increased pancreatic cancer - 3 |
|
Definition
|
|
Term
| which syndromes have increased gastric/SI cancer |
|
Definition
| lynch, cowden - harmatomas, peutz - cancers and harmatomas, hereditary gastric |
|
|
Term
| which syndrome has an increased risk of cervical adenoma malignium |
|
Definition
|
|
Term
| which syndrome has an increased risk of thyroid cancer |
|
Definition
|
|
Term
| which syndrome has an increased risk of lung cancer |
|
Definition
|
|
Term
| which syndrome has an increased risk of gliomlastoma |
|
Definition
|
|
Term
| which syndrome has an increased risk of melanoma |
|
Definition
|
|
Term
| what is the risk of primary peritoneal cancer in BRCA after a BSO |
|
Definition
|
|
Term
| what mutation has risks of breast and ovarian cancer at a similar rate to BRCA |
|
Definition
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