Fibroadenoma PBL Flashcards
What are the two main types of mutation?
Point mutations - change in a single base pair
Block mutations - change in a segment of base pairs
What are the types of point mutations? (4)
Substitution
Insertion
Deletion
Inversion
What are the types of block mutations? (5)
Duplication
Inversion
Deletion
Insertion
Translocation
What are the different mutation types? (that relate to the different outcomes of coding)
Missense - point substitution, produces a different amino acid than normal, protein have altered properties or non-functional
Silent - point substitution, does not code for a different amino acid
Nonsense - point substitution, codes for stop codon, premature termination of protein = non-functional or impaired function normally
How does the breast change in pregnancy?
Growth
Increase in oestrogen and progesterone - ductal proliferation, glandular tissue invades adipose
Increase in vascularity and blood flow
Greatest growth in first 22 weeks
Tenderness
Enlarged and darker nipple and areola
How does the breast change during breastfeeding?
Enlarged
Conversion from proliferative to secretory
Oxytocin released from nipple stimulation from baby maintains lactation
Increased firmness
How does the breast change during the menstrual cycle?
Swelling, pain and soreness
Lumps from enlarged glands
Oestrogen increases before ovulation - lactiferous ducts and glands to grow
Progesterone increases after ovulation - ducts and glands grow
What are controllable risk factors for breast cancer? (5)
Obesity -
mainly adipose tissue produces oestrogen post menopause. Oestrogen can encourage breast cancer growth in O receptor positive cells
Alcohol -
Toxic metabolites of alcohol can damage DNA.
Alc increases Oes levels
Alc increases risk of hormone receptor positive breast cancer
Hormonal contraception - increased O and P
HRT - increased O and P
Inactivity - exercise limits insulin growth factor levels in blood. increase in adipose, increases oestrogen
What are uncontrollable risk factors for breast cancer?
Family history/inheritance - faulty BRCA 1 and/or 2 gene (TSGs)
Radiation - women with faulty BRCA1/2 who had chest xray before 30 more likely to develop BC than those who don’t
Breast density - higher density higher risk - more breast cells less fat
Age of periods - Increased risk if started period early before 12 yr. Increased risk if late menopause after 55yr. Longer exposure to oestrogen
Previous cancer
No children or late children - lower risk in women who have had kids. lower risk the earier you’ve had kids
What is the chance of developing BC if inherited the harmful BRCA 1 and BRCA2 genes?
Harmful BRCA1 - 55-72% women will develop BC
Harmful BRCA2 - 45-69% women will develop BC
What is the most common type of benign breast tumour?
Fibroadenoma
What is DCIS?
Ductal carcinoma in situ
Abnormal cells in lining of breast duct
Not invasive or pre-invasive
What is stage 0 breast cancer?
Breast carcinoma in situ non-invasive breast cancer
Abnormal cells in breast tissue two types:
DCIS and paget disease
What is Paget disease?
Abnormal cells in the skin of the nipple, may spread to areola
Eczema like changes to the skin
What is stage 1 breast cancer?
Very early stage of invasive cancer
Small, localised to breast tissue
Two subgroups: 1A - up to 20mm no cancer in LN
1B - less than 20mm and small clusters cancer cells in LN OR no tumour in breast and small clusters cancer cells in LN