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Terms in this set (98)
Breast cancer is the ___ most common cancer in women
In the US, a woman has what chance of developing breast cancer in her lifetime?
1 in 8
Ovarian cancer is the ___ most common cancer in women
A woman has what chance of developing an invasive ovarian cancer?
1 in 71
What proportion of women dx with ovarian cancer are over 55?
What is the 1 year survival rate for ovarian cancer?
what is the 5 year survival rate for ovarian cancer?
What is the 5yr survival rate if ov ca is found before it metastasizes?
What % of ovarian cancer is found before it metastasizes?
How do rate of breast cancer compare in males and females?
100x more common in females
What is the lifetime risk for a man to develop breast cancer?
1 in 1000
What proportion of men with breast cancer have 1- or 2-degree relative with breast ca?
1 in 5
What are the ACS guidelines for screening for the avg woman?
1. yrly mammogram after 40
2. clin br exams every 3y in 20s and 30s
3. self br exams starting in 20s
What are the two available screening tests for ov ca?
CA-125 blood test and transvaginal sonography
What is CA-125?
protein found higher in the blood of many women with ovarian cancer. but not always high in women with ovarian cancer
What are possible signs of breast ca?
bump or mass, swelling, skin irritation, dimpling, pain, nipple retraction, irritation of nipple, nipple discharge
What are the anatomical components of breasts?
what are breast lobules?
milk producing glands
what are breast ducts?
milk passages that connect the lobules and the nipple
what is stroma?
fatty tissue and ligaments surrounding the ducts, lobules, blood vessels, and lymphatic vessels
What are the types of tissues found in ovaries?
What is the purpose of Germ Cells?
they produce eggs
What is the purpose of stromal cells?
produce female hormones (estrogen and progesterone)
What is the epithelium?
layer of tissue that surrounds the ovaries
What are the types of in-situ breast ca?
Ductal Carcinoma in situ (DCIS), lobular carcinoma in situ (LCIS)
What is DCIS?
ca confined to the lining of the milk ducts, can spread through the duct walls into surrounding tissue if not treated, sometimes referred to as intraductal carcinoma
What is LCIS?
cancer begins in lobules but does not spread (doesnt become invasive, but risk factor for future inv disease)
What are the three types of invasive breast cancer?
Invasive ductal carcinoma (IDC), invasive lobular carcinoma (ILC), and inflammatory
What is IDC?
cancer forms in the lining of milk ducts, then spread into surrounding tissue (including breast and lymphatic tissues, as well as blood vessels)
What % of breast ca does IDC account for?
What is ILC?
cancer forms in the lobules and spreads into surrounding and distant tissues; Typically does not feel like distinct lump, but a fullness or area of thickening
Which type is more closely associated with BRCA1/2 mutations, IDC or ILC?
What is ILC more commonly associated with?
Hereditary Diffuse Gastric Cancer (CDH1 mutations)
What are the features of inflammatory breast ca?
Cancer cells block the lymph vessels in the skin of the breast; Results in swelling, redness, warmth; More rare, but aggressive
What are other possible types of breast cancer?
fibrous connective tissue, blood vessels, and lymphatic system
How is invasive breast cancer classified?
tumor size, stage, Her-2/Neu, hormone receptor status
What are the types of hormone receptors?
estrogen (ER) and progesterone (PR); if positive, can treat with hormone blocking meds to slow growth
What is Her-2/Neu?
amplification leads to overexpression of the protein, which leads to more rapid cell proliferation
What % of breast ca has Her2Neu amplification?
How are Her2Neu pos cancers treated?
with Herceptin - signals immune response targeting ca cells, prevents cell proliferation
What is the receptor status of most sporadic breast ca?
BRCA1 mutations are commonly associated with what receptor status?
ER/PR negative and Her-2/neu negative
BRCA2 mutations are commonly associated with what receptor status?
Trick question - they are not associated with any receptor status patterns
What stage is DCIS considered?
What are the types of ovarian cancer?
Germ Cell (5%)
What type of ov ca is more associated with BRCA1/2 mutations?
Epithelial (mostly papillary serous)
What are the subtypes of epithlial ov ca?
Brenner tumor (benign); Low Malignant Potential tumor; Papillary serous (75%); Mucinous; Endometrioid; Clear cell
What are risk factors for breast ca?
Gender, Age (risk for any cancer increases with age), Menarche before 12; 1st child 30+, Menop 55+; Atypical hyperplasia or LCIS; Postmenopausal obesity
What are environmental risk factors for breast ca?
3+ drinks/day; Exposure to ionizing radiation; Hormone replacement therapy, specifically estrogen
What are risk factors for ov ca?
nulliparity, FHx of ov ca, fertility drugs
What are protective factors for ov ca?
oral contraceptive use, tubal ligation and hysterectomy
What are the two most common genes associated with breast and/or ov ca?
BRCA1 and BRCA2
What are the low penetrance genes that are thought to double br ca risk compared to the gen pop?
CHEK2, ATM, NBS1, RAD50, BRIP1, PALB2
What are 2 genes that are associated with rare cancer syndromes that confer a high br ca risk?
p53 and PTEN
What are the ethnic groups known to have a higher incidence of BRCA1/2 mutations?
Icelanders and Ashkenazi Jews
What br ca risk is associated with Cowden syndrome (PTEN)?
What are other features of Cowden?
multiple hamartomas, inc cancer risks: breast, nonmed thyroid, uterine, endometrial, renal; macroceph, brain tumors,
What risk for br cancer does Li-Fraumeni syndrome confer?
What are other features of Li-Fraumeni (p53 mutations)?
wide range of malignancies, esp breast ca, brain tumors, acute leukemia, soft tissue sarcomas, bone sarcomas, adrenal cortical carcinoma
What risk of br ca does Heterozygous AT (ataxia telangiectasia) confer?
What risk of br ca does Hereditary Diffuse Gastric Cancer confer?
20-40% risk of lobular breast cancer
What is br ca risk in Peutz-Jegher syndrome?
(plus GI, panc, lung, uterine, ov, testicular)
What is the lifetime ov ca risk for a BRCA1 carrier?
What is the lifetime ov ca risk for a BRCA2 carrier?
What is the lifetime ov ca risk for Lynch syndrome (HNPCC)?
(plus endometr,stomach,urinary,small bowel, bile ducts, seb skin)
What is the lifetime ov ca risk for Basal Cel Nevus/Gorlin syndrome?
2-20% for ovarian fibromas
(plus cardiac fibromas, medulloblastoma, BCC)
Where is the BRCA1 gene located?
Where is the BRCA2 gene located?
What types of genes are BRCA1/2?
tumor suppressor genes
(cellular response to DNA damage in ds break repair)
What mode of inheritance do BRCA1/2 follow?
What other types of cancer are BRCA1/2 associated with?
Male br ca (up to 7% BRCA2)
Melanoma (5% BRCA2)
What % of hereditary br/ov ca do BRCA1 and BRCA2 account for?
What are the features of how a hereditary cancer family presents?
What are Factors that may Hinder Assessment of a Family?
Multiple males/male-dominated family; Small sibships/families; Females that have had significant risk reduction (ex. BSO)
What are the two risk models that measure risk to develop breast cancer?
Gail and Claus
What does Gail take into account?
proband age, cancer in FDRs, br biopsies & outcome, menarche age, child birth age
What is an important calculation from the Gail model?
age 35 if 1.7%+ five yr risk for breast ca
Chemoprevention with Tamoxifen is associated with __% reduction in br ca risk?
49% in W with inc br ca risk
62% in BRCA2 carrier
What risk reductions is oophorectomy associated with?
80-96% for ov ca
53% in breast ca if done premenopausally
What does Claus take into account?
proband age, FHx (FDR or SDR) br and ov ca, onset ages
What is an important calculation from the Claus model?
if have greater than 20% risk, Qualify for MRI surveillance
What are the Mutation carrier risk models?
Shattuck-Eidens, Frank/Myriad, Couch, BRCAPRO
What does Shattuck-Eidens take into account?
probands br and ov cancer, laterality, onset ages, relatives with br or ov ca, AJ
What does Frank/Myriad take into account?
under 40 or 5 at dx, laterality, relatives with br or ov ca (all yes/no type questions)
What does Couch I take into account?
probands cancer, avg age of br ca dx, br/ov ca status in any relative, AJ
What does Couch II take into account?
women dx before 50, multiple primaries, ov/fall cancers, male br ca, AJ
What does BRCAPRO take into account?
Breast and ov ca in all FDRs & SDRs, onset ages, unaff ages, AJ, mutation statuses
How many people carry a BRCA1/2 mutation?
est. 1 in 300-800
What % of breast and ov ca are BRCA1/2 thought to account for?
7% of breast
14% of ovarian
What % of fams with multiple br/ov ca are BRCA1/2 thought to account for?
more than 90%
What is the carrier rate of BRCA1/2 in Ashkenazi Jews?
1 in 40
What are the three common AJ mutations?
An AJ woman with breast ca has __% of carrying a mutation?
(21-30% if dx before 40)
What is included in BRACAnalysis full sequence analysis and what is the cost?
full seq of BRCA1/2 (and 5 site rearrangement panel); $3120
What is the cost of targeted mutation analysis?
What is the cost of the AJ multisite-3 analysis?
What is BART?
Large Rearrang Test; tests for 5 large rearrang, less than 1% chance for pos test when done reflex after normal test
Who gets BART testing?
included if have strong enough FHx, done for 700 if requested; ppl with neg test and strong FHx tested before Aug 2006
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