Cancer Syndromes Flashcards
Cowdens syndrome is associated with a mutation in which gene and is associated with which cancers?
PTEN gene, most common is breast but can also be associated with thyroid, endometrial, renal, CRC and skin.
What is a missense mutation?
Single base pair substitution causing change in amino acid sequence.
Which criteria is used for Lynch syndrome?
Amsterdam or Bethseda
Is Lynch syndrome more likely to cause left or right sided tumours?
Right sided
What proportion of patients with FAP will develop CRC?
All of them. Consider risk reducing surgery or annual colonoscopy with polypectomy.
If CDH1 positive when should gastrectomy be considered?
In 20’s
What is the risk of developing gastric cancer with HDGC?
70% for men and 56% for women
When should prostate screening start in BRCA2 +ve men?
Age 40
BAP1 is linked to which cancers?
BRCA associated gene 1 is linked to cutaneous and uveal melanomas, RCC and mesothelioma.
What is the most common genetic cause for clear cell renal cancer?
Von-Hippel Lindau
Which condition is characterised by the development of cutaneous and uterine leiomyomas and RCC? Which gene is affected?
Hereditory leiomyomatosis and RCC, gene is fumerate hydratase
Which mutations have been associated with hereditory papillary renal cell carcinoma?
MET, but also mutated in around 10% sporadic RCC. Characterised by multifocal bilateral T1 papillary RCC
What is the most common hereditory cause of pancreatitis?
PRSS1 (increased risk of pancreatitis due to chronic inflammation)
Which tumours are seen in MEN1?
4x P, A, N, G
Parathyroid, Pancreas, Pituitary, Adrenal, NET, Phaechromocytoma, Gastrinoma
Which tumours are seen in MEN2?
MTPP
Medullary thyroid, parathyroid and phaechromocytoma.
What kind of gene is PTEN
Tumour suppressor gene
What kind of gene is p53?
DNA repair gene
What kind of gene is APC?
Tumour suppressor gene
What kind of gene is MET?
Oncogene
BRCA1 is responsible for what percentage of hereditary breast cancer cases?
45%
When should breast surveillance start and end in BRCA positive women?
Starts at 25yo with MRI screening (if 8% 10 year risk), 40-50yrs MRI and mammogram. Above 50 May move to mammography only usually. Continue until 71.
As well as women with hereditary causes of breast cancer, who else is eligible for screening as per BRCA protocol?
Women who have had RT to breast tissues between 10-19yrs. Screening starts either at 25 or 8 years following irradiation (whichever is later). Same rule for breast irradiation ages 20-35.
How does breast screening differ for Li-Fraumeni syndrome?
MRI only, starts at 20yo
Whilst PTEN is associated with Cowdens it is also a common somatic mutation. In which cancers are somatic mutation most likely to be seen?
Endometrial and GBM
