Runs In the Family
45M patient just diagnosed with prostate cancer has 2 sisters diagnosed with unknown types of breast cancer in their late 30s/early 40s. This is the most likely mutation this family carries.
BRCA2
48 yo M with sigmoid adeno, mismatch repair on IHC intact. Germline testing can be offered based on what recommendation?
What is all patients <50 yo with CRC ?
41 yo F with family hx of sister and aunt with breast cancer as well as uncle with gastsric cancer. What is the most likely type of breast cancer she has?
43M with newly diagnosed diffuse gastric cancer presents to your clinic. He is feeling very depressed as his father died of gastric cancer at age 35. This is the mutation you expect to find on genetic testing.
What is CDH1?
Almost all patients affected by this syndrome, caused by a mutation in p53, will develop some cancer in their lifetime, among them breast, colon, leukemia, sarcoma.
What is Li-Fraumeni?
35 yo F with CRC is MSI-H. She is referred to genetic counseling to test for germline mutations in what genes?
MLH1, MSH2, MSH6, PMS2
30 yo M with APC mutation s/p total colectomy at age 27 is now seeking advice for additional routine testing for screening. What would you recommend?
What is "Annual thyroid US and EGD"?
28F presented at breast tumor board for adjuvant treatment recommendations for pT3N2 completely resected HER2+, ER/PR negative adenocarcinoma of the L breast. PMHx notable for retinal pigment epithelial hypertrophy and a benign growth in her mandible. She had outside genetic testing with an unknown mutation found. Your tumor board recommends this adjuvant treatment.
What is chemo/HER2 targeted agents-- NOT radiation?
A mutation in this gene causes p53 to accumulate, leading to high risk of developing pancreatic cancer and melanoma.
What is CDKN2?
This syndrome causes nearly a 100% lifetime risk of colon cancer, in addition to increased risks of osteomas, epidermoid cysts, and desmoid tumors.
What is Gardner's syndrome?
37 yo F with breast cancer, noted to have a son with adrenal cortical carcinoma and osteosarcoma, maternal breast cancer, brain tumors, and colon cancers. What gene likely has a germline mutation?
45yo with melanoma found to have CDKN2A . What cancer should he be screened for and how (2 part answer)?
What is "Pancreatic cancer with annual MRCP and EUS"?
You are caring for a 40F with a known mutation in PTEN who just underwent treatment for stage IIA adenocarcicnoma of the L breast, including bilateral ppx mastectomy. At this visit, you recommend a thyroid ultrasound to screen for this disorder.
What is follicular thyroid cancer?
Mutations in this gene cause patients to develop >100 adenomas and high risk of colon cancer and is an autosomal recessive condition.
What is MUTYH?
This syndrome, caused my a mutation in PTEN, leads to increased risk of hamartomas, breast cancer, thyroid cancer, and uterine cancer.
What is Cowden syndrome?
70 W with met CRC who has loss of MMR proteins and is concerned about hereditary Lynch. What genetic alteration would support sporadic rather than inherited Lynch?
You are consulting on a 31F who was found to have only a CHEK2 mutation after undergoing genetic testing as her sister was found to have early breast cancer with a BRCA2 mutation. You recommend this to screen for breast cancer.
What is annual mammogram starting age 40, consider annual breast MRI?
You have a 39M patient who you have treated for osteosarcoma and stage 1 CRC. His sister just got diagnosed with breast cancer. You tell him it is most likely this type.
What is HER2+ breast cancer?
A 50 year old patient is referred to you after colonoscopy showed about 30 adenomatous polyps, one of which was a high risk stage II adenoCA. His father (59) and two brothers (54 and 61) both had CRC. You diagnose him with this condition and find this mutation (2 answers).
What is attenuated FAP, partial function of mutated APC?
This autosomal dominant syndrome is characterized by non-cKIT mutated GISTs and paragangliomas.
What is Carney-Stratakis?
Patient with AML who has family hx of thrombocytopenia and a sibling with MDS at age 25. What is the most likely germline mutation?
RUNX1
36yo F with strong maternal family hx of breast cancer whose mother recently was tested and +VUS in BRCA2. Her individual risk score is 33%. What kind of screening should this patient have?
What is breast MRI + mammogram starting 5-10 years before the family member's earliest age of diagnosis
35 yo F with BRCA2 mutation and paternal family in 2 relatives <50 yo. What should be recommended for this patient?
What is 5 years of TAM for breast cancer risk-reduction?
Link the following types of melanomas to associated mutations: cutaneous, mucosal/acral, uveal (3 answers).
What is BRAF, cKIT, GNAQ/GNA11?
Treatment with vismodegib would help target the most common cancer seen with this syndrome, though it may also affect the bones, nervous system, and ovaries.
What is Gorlin- PTCH mutation?