Hereditary Cancer Syndrome – Flashcards
Unlock all answers in this set
Unlock answersquestion
does all cancer have a genetic component
answer
yes
question
is all cancer hereditary
answer
no
question
what percentage of cancer is sporadic
answer
60
question
what percent of cancer is familial
answer
30
question
what percent of cancer is hereditary
answer
5-10
question
what cancer is this: -affects 1 in 20,000 children -most common primary tumor in children -occurs in heritable and non-heritable forms -identifying at risk infants substantially reduces morbidity and mortality -presents with leukocorsia
answer
retinoblastoma
question
what type of genetic disorder is retinoblastoma
answer
autosomal dominant
question
what gene is affected in retinoblastoma on chromosome 13 and was the first tumor suppressor gene discovered
answer
RB1
question
what % of penetrance does
answer
90
question
what cancer is the prototype for Knudson's "two-hit" hypothesis (one inherited non-working gene and one acquired)
answer
retinoblastoma
question
when you have what type of retinoblastoma: -unilateral tumor -no family history -around 2 years at diagnosis -no increased risk of second primaries -RB1 mutations only in tumor
answer
nonheritable
question
when you have what type of retinoblastoma: -bilateral tumor -20% of cases have family history -around 1 year at diagnosis -increased risk of second primaries (such as osteosarcoma, other sarcoma, melanoma) -RB1 mutations in germline and in tumor
answer
heritable
question
what type of cancer is: -anterior pituitary -parathyroid -adrenal cortex -pancreatic islets -germline mutation in MEN1 chromosome 11
answer
MEN1 (multiple endocrine neoplasia type 1)
question
what type of cancer is: -thyroid C cells -parathyroid -adrenal medulla -germline mutations in RET chromosome 10
answer
MEN1 (multiple endocrine neoplasia type 2)
question
what type of cancer: -is a rare inherited cancer syndrome characterized primarily by endocrine tumor in parathyroid, pancreatic islet cell, pituitary may include: -adenocortical tumors -carcinoids -thyroid abnormalities -pinealomas -dermal lesions -overall penetrance at >50% by age 20 and 100% by age 60
answer
MEN1
question
for cancer to be qualified as MEN1 two of what three main tumor types must be present
answer
parathyroid, pancreatic, or pituitary
question
what is it called when an index MEN1 case with at least one first degree relative who has one of the three main MEN1 tumors
answer
familial MEN1
question
what is the hallmark of MEN2
answer
medullary thyroid cancer (MTC)
question
what percentage of medullary thyroid cancer is caused by MEN2A mutation
answer
20-25
question
what percentage of medullary thyroid cancer is caused by MEN2B mutation
answer
less than 2
question
with an MEN2A mutation what do you have a 90-95% chance of getting
answer
medullary thryroid cancer
question
with an MEN2A mutation what do you have a 50% chance of getting
answer
pheochromocytoma
question
with an MEN2A mutation what do you have a 15-30% chance of getting
answer
hyperparathyroidism
question
what type of genetic disorder is MEN2A
answer
autosomal dominant
question
what type of cancer does this: -lifetime risk: Medullary thyroid cancer (100%), pheochromocytoma (50%) -other findings: mucosal neuromas (lip and tongue), ganglioneuromatosis, characteristic facies w enlarged lips, marfanoid habitus -MTC can develop in infancy or early childhood
answer
MEN2B
question
what is diagnosed by four or more family members with medullary thyroid cancer, 100% risk for MTC, and no other associated risks
answer
familial medullary thyroid cancer (FMTC)
question
what is the oncogene that causes MEN2
answer
RET
question
what type of genetic disorder is MEN2
answer
autosomal dominant
question
what cancer is this: -significant genotype/phenotype correlations -percentage due to de novo mutations MEN2A 5% MEN2B 50% -mutation detection rate: MEN2A >95% MEN2B >95% FMTC 88%
answer
MEN2
question
what percentage of breast and ovarian cancer is caused by mutations in the BRCA 1 or 2 genes
answer
5-10
question
women with an inherited change in BRCA1 or BRCA2 have an up to 85% lifetime risk of developing what
answer
breast cancer
question
the risk of developing a 2nd new breast cancer is up to what percentage with a BRCA1 mutation
answer
65
question
the risk of developing a 2nd new breast cancer is up to what percentage with a BRCA2 mutation
answer
50
question
the risk for developing ovarian cancer with a BRCA1 mutation is what percentage
answer
60
question
the risk for developing ovarian cancer with a BRCA2 mutation is what percentage
answer
25
question
what should be counseled for when: -a personal or family history of breast cancer is diagnosed before age 50 -more than one relative with breast cancer diagnosed at any age -a personal or family history of ovarian cancer diagnosed at any age -a personal or family history of bilateral breast cancer, male breast cancer, fallopian tube cancer, or primary peritoneal cancer -a personal or family history of both breast and ovarian cancer in the same individual -membership in a population known to carry a founder mutation (ex: Ashkenazi jewish)
answer
BRCA1 or BRCA2
question
would this be considered sporadic or hereditary cancer: -breast cancer diagnosed >60 -no ovarian cancer -cancers in the family have a high incidence in the general population -there is no clear pattern of inheritance on one side of the family
answer
sporadic
question
would this be considered sporadic or hereditary cancer: -breast cancer diagnosed <50 -ovarian cancer at any age -breast and ovarian cancer in the same individual -male with breast cancer -evidence of autosomal dominant transmission
answer
hereditary
question
when a mutation is found in what gene does this called for increased surveillance such as: -monthly breast self-exams and clinical breast exams 2-4 times per year -annual digital mammogran and breast MRI -transvaginal ultrasound/CA-125
answer
BRCA1 or BRCA2
question
what can be given to try and prevent breast cancer or ovarian cancer in someone that tests positive for a BRCA1 or 2 mutation
answer
tamoxifen and oral contraceptives
question
what type of surgery can be done when someone tests positive for a BRCA1 or 2 mutation to prevent cancer
answer
mastectomy or oophorectomy
question
what population has an extremely high incidence of about 1 in 40 of BRCA1 and BRCA2 mutations
answer
ashkenazi jewish
question
what percentage of colorectal cancer is caused by herediatry nonpolyposis colorectal cancer (HNPCC)
answer
5
question
what cancer causes these common referrals: -cancer: `colorectal cancer 10 adenomas
answer
hereditary colon cancer
question
what percent is the risk of colorectal cancer when you have a personal history of colorectal cancer
answer
15-20
question
what percent is the risk of colorectal cancer with inflammatory bowel disease
answer
15-40
question
what percent is the risk of colorectal cancer with HNPCC mutation
answer
60-80
question
what percent is the risk of colorectal cancer with FAP
answer
greater than 95
question
what hes these clinical features: -early but variable age at CRC diagnosis (~45 yrs) -tumor site in proximal colon predominately -extracolonic cancers: endometrium, ovary, stomach, urinary tract, small bowel, bile ducts, sebaceous skin tumors
answer
lynch
question
you have the greatest risk of HNPCC when you have what two types of cancer
answer
colorectal and endometrial
question
what type of genetic disorder is lynch syndrome
answer
autosomal dominant
question
what genes are altered in Lynch syndrome producing genetic heterogeneity
answer
MLH1, MSH2, MSH6, and PMS2
question
what do the genes that are defective in lynch syndrome normally function in
answer
DNA mismatch repair
question
what gene mutation may also result in absent or reduced protein expression with Lynch syndrome
answer
MMR
question
the amesterdam II criteria is called what: -where there needs to be 3 relatives with a lynch syndrome-associated cancer (colorectal, endometrial, ovarian, gastric, small bowel, ureter, or renal pelvis), one a first-degee relative of the other two -cases that span at least two generations -at least one cancer case diagnosed before 50 years
answer
3-2-1 rule
question
what are these revised Betheseda criteria for: -Colorectal cancer dx less than 50 -Presence of synchronous, or metachronous HNPCC-associated tumors, regardless of age -A patient with colorectal cancer who has one or more first-degree relatives who had an HNPCC-related tumor at age 50 or younger -A patient with colorectal cancer who has two or more first- or second-degree relatives who had HNPCC-related tumors at any age -A patient younger than age 60 has colorectal cancer that has microscopic characteristics that are often indicative of microsatellite instability
answer
lynch syndrome
question
what are surveillance options for lynch syndrome
answer
colonoscopy, upper endoscopy, hysterectomy, and urinanalysis
question
what are these the clinical features of: -characterized by hundreds to thousands of adenomatus polyps in the colon -untreated polyposis leads to 100% risk of cancer -risk of extracolonic tumors (upper GI, desmoid, osteoma, thyroid, brain) -additional features include `CHRPE `dental abnormalities `epidermoid cysts `fibromas `fundic gland polyps (w high grade dysplasia)
answer
FAP (familial adenomal polyposis)
question
people with FAP have an increased risk of what type of cancer
answer
colorectal
question
what has the following clinical features: -features of FAP plus extraintestinal lesions -desmoid tumors -osteomas -supernumerary teeth -CHRPE -soft tissue skin tumors
answer
gardner syndrome (variant of FAP)
question
what does CHRPE stand for
answer
congenital hypertrophy of the retinal piment epithelium
question
what type of genetic disorder is FAP
answer
autosomal dominant
question
what gene is usually mutated with FAP
answer
APC
question
what type of mutations occur in ~30% of FAP cases
answer
de novo
question
what has the following clinical features: -later onset (CRC~age 50) -few colonic adenomas -not associated with CHRPE -UGI lesions (fundic gland polyps and duodenal adenomas) -associated with mutations at 5' and 3' ends of APC gene and in exon 9 -APC gene testing recommended if >20 cumulative colonic adenomas
answer
attenuated FAP
question
the following are indications for what type of gene testing: -molecular diagnosis of FAP in patients who present with: polyposis (>100 adenomas) and attenuated FAP -predictive testing for FAP in blood relatives of persons with FAP or known mutations
answer
APC
question
what has the following clinical features: -multiple colorecatal adenomas (10-100) -similar to FAP and AFAP phenotype -negative family history -unsure of cancer risk -86% of individuals of northern european ancestry with this mutation will carry amino acid substitutions at Y165C and G382D
answer
MYH-associated polyposis
question
what gene is mutated with MYH
answer
MYH
question
what type of genetic disorder is MYH
answer
autosomal recessive
question
with 86% of individuals of northern european ancestry with MYH mutation will carry amino acid substitutions at where?
answer
Y165C and G382D
question
what is defined as: -three first degree relatives with prostate cancer or -three generations affected w prostate cancer or -two first degree relatives w prostate cancer under the age of 55
answer
hereditary prostate cancer
question
what percentage of men with prostate cancer is due to a hereditary component
answer
10
question
the risk of developing prostate cancer is 2x higher if you have how many relatives w prostate cancer
answer
1
question
the risk of developing prostate cancer is 5x higher if you have how many relatives w prostate cancer
answer
2
question
the risk of developing prostate cancer is 11x higher if you have how many relatives w prostate cancer
answer
3
question
men with a mutation in what genes are at a high risk for prostate cancer
answer
BRCA1/2, HPC
question
what are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling and most enter the field from a variety of disciplines
answer
genetic counselors
question
what is often recommended prior to genetic testing that can provide useful information about genetic testing and can answer questions about inherited cancer
answer
genetic counseling
question
what are the following things involved with: -Review of medical and family history -Pedigree construction and risk assessment -Education regarding the genetics and natural history of the hereditary cancer syndrome -Review of options for risk reduction and surveillance -Review of risks, benefits, and limitations of testing -Provide referrals and identify resources
answer
genetic counseling
question
when doing genetic testing what type of person should testing begin with and if a mutation is found this will be more informative for other family members
answer
affected
question
what should be suspected when there is: -Cancer in 2 or more close relatives (on same side of family) -Early age at diagnosis -Bilateral or multiple primary tumors -Several rare cancers within the family -Constellation of tumors consistent with specific cancer syndrome (eg, breast and ovary) -Evidence of autosomal dominant transmission -Specific ethnicities (Ashkenazi Jewish)
answer
hereditary cancer syndroms
question
what is done when you check: -Type of primary cancer(s) in each relative -Age of cancer diagnosis in each relative -Cancer status in 1st degree relatives (siblings, parents, offspring) -Cancer status in 2nd degree relatives (aunts, uncles, grandparents) -Cancer status in BOTH sides of the family
answer
family history
question
can a woman get a genetic mutation from her father
answer
yes
question
who is the best person in your family to test for genetic testing
answer
had cancer youngest diagnosis
question
what genetic tests should be ordered
answer
depends on family history
question
what would positive genetic test results mean for me and my family
answer
whose at risk
question
what would negative results on a genetic test mean for me and my family
answer
doesn't mean your not at risk just that you don't have that gene/mutation
question
what protects against families being discriminated against based on genetic test results
answer
GINA/HIPPAA, NJ Genetic Privacy act (federal and state laws)
question
will insurance cover genetic testing
answer
usually
question
what is it called when social or economic discrimination occurs based on one's hereditary predisposition to disease and this can be denial of access to or increased cost of insurance, loss of employment, educational, or other opportunities
answer
genetic discrimination
question
what is a website that counselors can go to for medical management of cancers
answer
national comprehensive cancer network (NCCN)
