Genomic Medicine Flashcards
Referral for Breast / Genetic Clinic - 2
✓ One first-degree female relative diagnosed with breast cancer under the age of 40 years.
✓ One first-degree male relative diagnosed with breast cancer at any age.
✓ One first-degree relative with bilateral breast cancer where the first primary was diagnosed under the age of 50 years.
✓ Two first-degree relatives, or one first-degree and one second-degree relative, diagnosed with breast cancer at any age.
✓ One first-degree or second-degree relative diagnosed with breast cancer at any age and one first-degree or second-degree relative diagnosed with ovarian cancer at any age (one of these should be a first-degree relative).
✓ Three first-degree or second-degree relatives diagnosed with breast cancer at any age.
Understanding Genomic Tree
How and what to record for Genomic Tree
For each person, record the following under the pedigree symbol:
Name, DoB (preferable to current age/ estimates)
Relevant symptoms and/or diagnoses and age at diagnosis (if known)
Cause of death and age at death (if known)
Depending on the clinical question, you might also want to record:
Pregnancy and birth history
Occupational/environmental exposures
Medications
best to ask for information about each person in turn, usually starting with your patient and moving through the family, generation by generation. The specific order may vary depending on who is affected with the condition, and its inheritance pattern.
Typically, information about three generations of a family would be collected (for instance, your patient’s generation, their parents’ generation and grandparents’ generation). In some clinical situations, you may be required to ask for broader details about the family and their medical conditions.
Meeting the regulations with Genomic tree
you may record information about other people in a family and pass it on to healthcare colleagues (under Schedule 3 of the Data Protection Act) without the consent of all those shown on the pedigree if this is necessary for medical purposes (including preventative medicine, medical diagnosis, medical research, the provision of care and treatment, and the management of healthcare services).
important to avoid showing a patient a pedigree that you or someone else has taken from a relative, unless you know that explicit consent has been given to share this information.
It is important to clearly document who took a genetic pedigree and the date. If there are updates to a family history such that the pedigree can be amended at a later date, add your name and the date of the update, as well as use a different coloured pen to note any changes, or upload the pedigree as a separate document in an electronic record system.
Associations in Down Syndrome - Trisomy 21
- Learning disability (1:1000 patients with this syndrome)
- Hypothyroidism
- Type 1 diabetes which presents in early childhood; no increased incidence of type 2 diabetes
- Congenital heart disease
- Congenital GIT abnormalities
- Atlanto-axial instability
- Alzheimer’s disease
- Leukaemia
- Deafness
- Cataracts
Degree of Relationship
1st degree: parents, siblings, children
2nd degree: Uncle, Aunt, nephews, nieces, grandparents, grandchildren
3rd degree: First cousin, great grandparent, great aunt, great uncle. great nephew, great grandchild, half-aunt, half-uncle
Genetics of Breast Ca
Faulty genes in:
BRCA1 & BRCA 2
TP53 gene
PALB2 gene
ATM gene
CHEK2 gene
STK11 gene
PTEN gene
Referral for Breast / Genetic Clinic - 2
One 1st degree or 2nd degree relative diagnosed with breast cancer @>40 years PLUS any one of following:
- bilateral breast ca
- breast cancer in a man
- ovarian cancer
- Jewish ancestry
- sarcoma (Ca of the bone/ soft tissue) in a relative <45 years
- brain tumour - glioma or childhood adrenal cortical carcinomas or
complicated patterns of multiple cancers at a young age - =>2 relatives with breast cancer on your father’s side of the family
