Name that Syndrome
Pathogenic variants in PTEN are associated with this syndrome.
What is Cowden syndrome?
Li-Fraumeni syndrome (LFS) is associated with this gene.
What is TP53?
Pathogenic variants in RAD51C, RAD51D, BRIP1, BRCA1, BRCA2, and PALB2 are all associated with increased risk for this cancer.
What is ovarian cancer?
Name the Lynch syndrome genes with the highest cancer risks.
What are MLH1, MSH2/EPCAM?
Name 2 oncogenes associated with hereditary cancer syndromes that we've covered in class.
What are RET & MET?
Based on current evidence, this gene is associated only with ovarian cancer risk.
What is BRIP1?
Based on current evidence, this gene is only associated with prostate cancer risk.
What is HOXB13?
This syndrome is associated with bilateral vestibular schwannomas.
What is NF2-related schannomatosis?
More than 100 adenomas are associated with these cancer syndromes.
What are FAP and MAP?
A pathogenic variant in VHL is associated with this syndrome.
What is von Hippel-Lindau syndrome?
Tuberous sclerosis complex is associated with these genes.
What are TSC1 and TSC2?
Pathogenic variants in STK11, CDKN2A, BRCA1/2, MLH1, and ATM are associated with increased risk for this cancer.
What is pancreatic adenocarcinoma?
Name two ways to test for MMR deficiency.
What are microsatellite instability and immunohistochemistry?
An example of this in action is when someone with a germline mutation in a tumor suppressor gene develops loss of heterozygosity of the other (normal) allele
What is Knudson's two-hit hypothesis?
Bilateral mastectomy, bilateral salpingo-oophorectomy (BSO), and pancreatic screening even in the absence of family history are all management options for this gene.
What is BRCA2?
This gene is associated with higher risk to develop aggressive prostate cancer.
What is BRCA2?
All of these cancers are associated with one disorder: Optic glioma, female breast cancer, malignant peripheral nerve sheath tumors, pheochromocytoma, and leukemia.
What is NF1?
Name 3 extracolonic features of FAP.
What are CHRPE, supernumerary teeth, jaw osteomas, desmoid tumors, periampullary carcinomas, thyroid cancer, and/or hepatoblastoma?
Pathogenic variants in APC are associated with this syndrome.
What is Familial Adenomatous Polyposis (FAP)?
Familial Atypical Multiple Mole Melanoma syndrome (FAMMM) is associated with these genes.
What are CDKN2A & CDK4?
Pathogenic variants in MMR genes, EPCAM, and PTEN are associated with increased risk for these types of cancers.
What are uterine and colon cancer?
The gene most likely to be mutated in someone with a colon tumor with loss of MSH2 and MSH6.
What is MSH2?
This type of mutation in an oncogene leads to tumorigenesis.
What is gain of function?
This is the breast cancer pathology most associated with LFS.
What is triple positive breast cancer?
This gene is classically associated with hemangioblastoma and clear cell renal cell carcinoma.
What is VHL?
This syndrome will likely present with multiple basal cell carcinomas before age 40.
What is Gorlin syndrome?
What percentage of patients with Juvenile polyposis syndrome (JPS) have no identifiable germline pathogenic variant?
What is up to 50%?
Pathogenic variants in STK11 are associated with this syndrome.
What is Peutz-Jeghers syndrome (PJS)?
Birt Hogg Dube Syndrome is associated with this gene.
What is FLCN?
Pathogenic variants in MEN1, VHL, NF1, TSC1 and TSC2 are associated with increased risk for this cancer.
What is pancreatic neuroendocrine tumors?
This is the most likely explanation for absent MLH1/PMS2 staining on IHC screening.
What is MLH1 promoter hypermethylation?
This risk model can only be used for individuals with known mutations.
What is ASK2Me?
This is the autosomal recessive condition associated with RAD51C.
What is Fanconi Anemia?
This syndrome is the most likely hereditary explanation for the following case: 35 y.o. female with FH-deficient kidney cancer who had a hysterectomy for a large fibroid at age 30.
What is HLRCC?
Chromophobe or hybrid oncocytic RCCs are most associated with this hereditary cancer syndrome.
What is BHD?
This is the level of risk for colon cancer in FAP if no intervention were taken.
What is 100%?
Pathogenic variants in CDH1 are associated with this syndrome.
What is hereditary diffuse gastric cancer syndrome (HDGC)?
Multiple Endocrine Neoplasia syndrome 2 (MEN2) is associated with this gene.
RET
This is the most common type of thyroid cancer seen in individuals with germline PTEN mutations.
What is follicular thyroid cancer?
Explain what 3-2-1-1-0 means in the Amsterdam criteria
What is at least 3 affected relatives with cancer, across 2 successive generations, 1 person is a FDR to the other two, 1 diagnosis under 50, and rule out FAP?
This risk model considers reproductive history, breast biopsy history, and only first-degree relatives with breast cancer to calculate empiric breast cancer risk.
What is the Gail model?
Name 2 genes associated with risk for triple negative breast cancer.
What are BRCA1, PALB2, BARD1, or RAD51D?
Name the three Ps of Multiple Endocrine neoplasia type 1(MEN1).
What are Pituitary adenoma, Parathyroid adenoma, pancreatic neuorendocrine tumor?
Angiosarcoma, chronic lymphocytic leukemia, and melanoma are all associated with this syndrome.
What is POT1 tumor predisposition syndrome?
This hereditary cancer syndrome commonly presents with intussusception and/or mucocutanenous hyperpigmentation/freckling.
What is Peutz-Jeghers syndrome?
Pathogenic variants in FH are associated with this syndrome.
What is Hereditary Leiomyomatosis and RCC syndrome (HLRCC)?
Gorlin syndrome is associated with these two genes.
What are SUFU and PTCH1?
Pathogenic variants in VHL, SDHx, TSC1/2, and BAP1 are associated with increased risk for this cancer.
What is clear cell RCC?
True or false: a colon tumor that tests positive for BRAF V600E is most likely caused by Lynch syndrome.
What is false?
When evaluating for CHIP, this is typically considered the best alternate DNA source for testing.
What is cultured fibroblasts from skin punch biopsy?
Signet ring cells on pathology can be associated with a hereditary cancer syndrome that also increases risk for breast cancer. Name the most common breast cancer pathology seen in this same syndrome.
What is lobular breast cancer?
Cystic nephroma, thyroid goiter, and pleuropulmonary blastoma are all associated with this syndrome.
What is DICER1 tumor predisposition syndrome?
The most likely diagnosis for a patient who has a history of seizures, SEGA tumor, and ungual fibroma.
What is TSC?
Pathogenic variants in SMAD4 are associated with Juvenile polyposis syndrome and what other hereditary condition?
What is hereditary hemorrhagic telangiectasia (HHT)?
Pathogenic variants in the SDHx genes are associated with this syndrome.
What is hereditary pheochromocytoma/paraganglioma syndrome (PGL/PCC)?
Which hereditary cancer risk gene is affected by maternal imprinting?
What is SDHD?
Pathogenic variants that can increase risk for Marfanoid habitus and pheochromocytomas can also significantly increase risk for this type of thyroid cancer.
What is medullary thyroid cancer?
If hereditary, transitional cell urothelial carcinoma is most likely associated with pathogenic variants in this gene.
What is MSH2?
When a person is found to carry a low-level variant and their child tests positive, this is the most likely explanation.
What is constitutional mosaicim?
This syndrome can increase risk for breast cancer, uterine cancer, and ovarian SCTAT tumors.
What is Peutz Jeghers Syndrome (PJS)?
In addition to fibrofolliculomas and kidney cancer risk, this is a common manifestation/feature of this hereditary syndrome.
What is spontaneous pneumothorax?
These 2 syndromes are associated with cafe-au-lait macules.
What are NF1 & CMMRD?
Pathogenic variants in STK11, SMAD4, BMPR1A and PTEN are all associated with this type of polyp.
What are hamartomas?