Reproductive & Genetics Flashcards
(103 cards)
1
Q
The single gene responsible for sexual determination is:
A
SRY
2
Q
The main cell responsible for the sexual differentiation of the internal genital tract is the:
A
Sertoli cell
3
Q
Main hormone responsible for differentiation of the internal genital tract is:
A
Anti Mullerian Hormone - AMH
4
Q
Main hormone responsible for differentiation of the external genitalia is:
A
Testosterone
5
Q
Development of ___________ induces the development of the kidney
A
the ureter
6
Q
Every individual goes through an __________ state of sexual differentiation with coexistence of both _____________ tracts
A
undifferentiated
male/female
7
Q
What is hypospadias?
A
Birth defect in boys in which opening of urethra is not located at the tip of the penis
1 / 300
8
Q
Name some side effects of DES - Diethylstillbestrol
A
Given in 1940-1970s, synthetic oestrogen to prevent miscarriage
DES daughters -Prenatal/ in utero exposure linked to clear cell adenocarcinoma - cervix/vagina cancer
Appears to be no known effects to DES sons
9
Q
A
10
Q
Most breast cancers derive from what tissue:
A
Lobular or Ductal
11
Q
What is the % spread of invasive carcinomas of the breast?
A
75% Ductal
10% Lobular
Other rarer ones exist
12
Q
4 molecular Subtypes of breast cancer and some features
(include rough survival %) -
A
-
Luminal A
- ER/ PgR +ve
- HER2 -ve
- Ki 67 low (mitotic factor)
-
Luminal B
- ER/ PgR +ve
- HER2 -ve or +ve (2 subtypes)
- Ki 67 hige (mitotic factor)
-
Erb-B2 overexpression
- ER + PgR absent
- HER2 +ve
-
Basal Like
- ER + PgR Absent
- HER2 -ve
13
Q
What are the layers of endometrial “zona functionalis”
A
Zona compacta
Zona spongiosum
14
Q
what are the 3 stages of implantation
A
- Apposition
- Adhesion
- Invasion
15
Q
What are the 2 phases of the menstrual cycle?
A
Follicular phase → Day 0-14
Luteal Phase → Day 14-28
16
Q
Where does Gonadotropin Releasing Hormone come from, and what does it stimulate?
A
GnRH (Gonadotropin Releasing Hormone) is released from the hypothalamus, and stimulates release of:
- Luteinising hormone (LH) and
- Follicle stimulating hormone (FSH)
Both from the anterior pituitary
17
Q
Combined oral contraceptive pills (cocp) work by:
A
- Include oestrogen and progestogen → inhibit FSH and LH release, thus inhibiting follicular development and ovulation
Also:
- Progestogen increases cervical mucus to inhibit sperm access to uterus
- Decreases ability for implantation of fertilised ovum due to atrophic endometrium
18
Q
Risk factors for breast cancer
A
- BRCA1 and BRCA2 mutations → 5-10% breast factors
- If you have these genes ~ 80% risk of developing
- Age > 40y
- F:M 100:1
- FHx
- Past Hx
- Hormonal influences
- age 1st pregnancy <30 reduces risk
- # pregnancies
- Diet/Etoh
- Obesity → inc risk post menopause, red risk pre menopause
- Exogenous hormones
- HRT - long term inc
- Oral contraceptives - slight inc breast, red risk others
- Tamoxifen → red risk breast, inc risk others
19
Q
Steps of breast cancer development
A
- Normal ductal lumen
- Benign proliferative changes
- Atypical hyperplasia
- Ductal cancer in situ
- Invasive carcinoma
20
Q
Most common metastases from breast cancer are:
A
Brain
Bones
Lungs
Liver
21
Q
Define breast cancer in situ vs invasive carcinoma
A
In situ - The proliferation of ductal epithelial cells with all the morphologic features of malignancy but without evidence of basement membrane penetration or stromal invasion.
22
Q
Name some prognostic and predictive factors for breast cancer
A
Prognostic markers – e.g., ER + good prognosis; HER2 + bad prognosis Predictive markers – e.g., ER+ responds to Hormone Therapy; HER2 + to Herceptin® Therapy
23
Q
Name some genes involved in breast cancer progression
A
- Oncogenes
- KRAS
- ERBB2 (HER2/NEU)
- Mismatched Repair
- MLH1
- MLH2
- BRACA1
- BRACA2
- Tumour Suppressor
- PTEN
- P53
- BRACA1
- BRACA2
- Cell Adhesion
- CDH1 - e cadherin
24
Q
Foetal blood is separated from maternal blood by:
A
- Foetal capillary endothelium
- Mesenchyme (embryonic connective tissue undifferentiated cells) and cytotrophoblasts (inner layer of trophoblasts)
- Thin layer of syncytiotrophoblasts (epithelial cells that cover villous tree)
25
Where does the placenta shear off after birth?
At the *decidua basalis*
26
What are the names of the foetal, and maternal portions of the placenta?
Foetal → villous chorion
Maternal → decidua basalis
These two are held together by *_anchoring villi_* that are anchored to the decidua basalis by the *cytotrophoblastic shell*
27
1. Lactogenesis (secretion) is inhibited during pregnancy by high levels of what hormone?
2. What triggers a sudden drop in this?
1. Progesterone → has an inhibitory effect on prolactin
2. Expulsion of the placenta
Note → “retained products” aka retention of placental tissue can result in early failure lactogenesis
28
Suckling at the breast stimulates:
Oxytocin release from the posterior pituitary
This leads to contraction of myoepithelial cells → milk ejection or “let down”
Also - prolactin bursts from anterior pituitary → aids milk production
This becomes a supply & demand situation → weaning must occur slowly as when done abruptly, can cause painful mastitis, and infection of the breast
29
5 D's of endometriosis
* Dolor - (chronic pelvic pain)
* Dysmenorrhea - painful period
* Dyspareunia - painful intercourse
* Dysuria - painful urination
* Dyschezia - painful defecation
30
Define & describe persistent pelvic pain (PPP)
* “non-cancer pain, \> 3-6months perceived in structures related to pelvis” → seems currently preferred to Chronic pelvic pain (CPP)
* 20% wome will experience at one stage in their lift
* Very common, assoc w poor outcomes, mental health and “suffering in silence”
31
Name some potential causes of PPP (persistent pelvic pain)
* Gynaecologic → Endometriosis, Ovarian cysts
* Urologic → Chronic UTI, Bladder dysfunction / stones
* Gastrointestinal → IBD, IBS, Hernia
* Musculoskeletal → Pelvic floor myalgia, Nerve entrapment, SIJ disorders
32
Rhesus (Rh) incompatibility occurs when:
* Rhesus (Rh) factor is a protein found on outside of red blood cells (RBCs).
* ~ 85% of people are Rh +ve
Problem occurs when:
* Mother is Rh -ve
* Pregnant with Rh +ve baby
* Mum's immune system reacts, creates Rh antibodies, which facilitates an immune system attack against the baby.
33
Rhesus (Rh) antibody formation can happen due to:
Only occurs with Negative mum, Positive bub
Antibodies form when Foetal blood enters mother's circulation or post blood transfusion, from causes such as:
* Injury to stomach area during pregnancy
* Bleeding during pregnancy
* Tests that require cells or fluids drawn from pregnant woman - ie amniocentesis, chorus villus sampling
* Early pregnancy complications such as miscarriages, ectopic pregnancies, termination
* Delivery of baby - vaginal or caesarian
34
Major risk factors for postnatal depression
* PHx Dep/Anx
* Antenatal Dep/Anx
* FHx Dep/MI
* Lack of social, practical, financial or emotional support
* Life stresses & adverse life events
* Stressful or complicated pregnancy
* Previous miscarriage/stillbirth
* Young maternal age
* Unwell/ unsetteld bub
35
Rx postnatal depression can include:
* Social support
* Psychological therapy
* Pharmacotherapy
36
General principles of Dep/Anx Rx in pregnancy
* Planned pregnancy allows time to discuss Rx options, and to switch if necessary to a med that appears safer in pregnancy
* Whenever possible, psychotherapy & psychosocial measures take precedence over pharmacotherapy or electroconvulsive therapy
* Pharmacotherapy goal → not max control of symptoms, but reduction of those that jeopardise mum or pregnancy
* All Rx recommendations discussed w patient, partner and obstetrician
37
Differentiation between stillbirth and miscarriage
“Expulsion from mother, embryo or fetus:”
Miscarriage
* \< 20 weeks
* \< 400g (NSW), \<500g (WHO→ median wt @ 20w)
Stillbirth after these times/weights
38
Sperm had 3 major roles in fertilisation
* Induce change in *zonal pellucida* which prevents polyspermy
* Stimulate second meiotic division of ovum → generating a second polar body which then dies
* Deliver paretnal gene compliment to ovum
* haploid → diploid - which forms the zygote
* determine the gender of the zygote
39
What is the terminology of developing foetus
First 2 weeks:
* zygote → morula → blastocyst
2-8 weeks
* Embryo
9-40 weeks
* Foetus
40
3 stages of implantation
1. Apposition
2. Adhesion
3. Invasion
41
Steps in Follicle development
* Female born with many many *diploid* (2N) _Oogonium_
* Pre puberty, these develop into _Primordial Follicles_ (still 2N) → *frozen in prophase 1* of Meiosis
* _Primary Follicles_ : Local androgens at puberty (not FSH or LH) convert some of the primordial follicles into primary follicles
* Primary Follicle → primary oocyte, still frozen in prophase 1, with single layer of cuboidal or columnar follicle cells
* _Early 2ndary Follicle_: Secretion of FSH by the anterior pituitary stimulates development of primary follicle to early 2ndary
* Early 2ndary Follicle → has many layers of cuboidal follicle cells surrounding primary oocyte
* Has *Zona Pellucida* (glycoprotein membrane) surrounding oocyte
* FSH stimulates follicle now to begin production of oestrogen
* _Late 2ndary Follicle_ (still a primary oocyte → ie hasn't finished meiosis 1) → develops via FSH & LH stimulation
* Production of pockets of follicular fluid → rich in hyaluronic acid
* More follicular cells
* _Graffian / Vecicular / Tertiary (3ry) Follicle_
* *2ndary oocyte* → 2 x (n), ie 2 haploid daughter cells - has finished meiosis I
* Frozen in *metaphase II*
* Pockets of follicular fluid merge to become *antrum*
* Releases *Inhibin B* → inhibits FSH production
* Proteolytic enzymes cut “stigma” to pop 2ndary oocyte out of Graffian follicle → Ovulation!! (~day 14)
* *Corpus Luteum* → LH surge promotes Graffian follicle to ovulate.
* LH stimulates Corpus Luteum to produce Progesterone
42
How do follicles produce oestrogen?
* Thecal cells surrounding granulosa cells of the follicle are stimulated by LH
* Theca cells: in presence of LH Cholesterol → Androgens (such as androstenedione)
* Granulosa cells in presence of FSH
* Androgens → Oestrogen
43
High Oestrogen levels towards the end of Follicular phase stimulate:
* Hypothalamus to release GnRH
* Anterior pituitary to produce tonnes of LH (LH surge)
* Note, Inhibin B inhibits production of FSH
44
2 layers of endometrium are?
* Stratum Functionalis
* Innermost layer
* Spiral & Coiled arteries
* Regenerates (proliferative phase) and is shed every cycle → regenerates in response to oestrogen
* Stratum Basalis
* Outermost
* Straight arteries - branches of uterine arteries
* Remains
45
Define “Ectopic Pregnancy”
* Non-intrauterine pregnancy → potentially life threatening
* May occur in:
* ovaries
* cervix
* intra abdominally
* but most common is uterine (fallopian) tubes
* 55% ampulla
* 25% isthmus
* remainder in fimbriae or uterine part
46
Describe the parts of the uterine (fallopian) tubes
FIAI
47
Risk factors for ectopic pregnancy
* Previous ectopic pregnancy
* Previous surgery → eg tubal ligation
* Pelvic infection
* Endometriosis
* *In vitro* fertilization (IVF)
* However, 50% of ectopic pregnancies occur in women with no predisposing risk factors
48
Clinical presentation of ectopic pregnancy
Range from no symptoms, to:
* Lower abdo pain → L, R or bilateral depending on location
* Vaginal bleeding
* Intra-abdominal haemorrhage
* Collapse
49
Describe Ectopic pregnancy:
* Confirmation of Dx
* Rx
Dx:
* hCG test (Human chorionic gonadotropin) → still usually raised despite implantation outside uterus
* Ultrasound of uterus
Rx:
* When occurring in uterine (fallopian) tubes
* *Laparascopic salpingostomy* (incision into tube)
* *Salpingectomy* (removal of tube)
50
Pre-eclampsia is defined as:
Pregnancy induced hypertension (PIH),
Oedema, and
Proteinuria
Relatively common, occurring in ~10% of pregnancies
51
Pregnancy induced hypertension (PIH) is heterogenous in manifestation but areas affected include:
* Liver damage
* Kidney dysfunction
* Hypertension itself may be dominant feature
52
A number of factors predisposing a woman to developing (PIH) pregnancy induced hypertension include:
* FHx
* First pregnancy
* Extremes of maternal age
* Medical Hx (pre-existing htn, diabetes mellitus)
* Obstetric Hx (multiple pregnancy, hydatitdiform mole)
53
Common complaints of symptomatic menopause include:
Most common (effectively relieved by HRT)
* Hot flushes
* Night sweats
* Vaginal dryness
Less commonly (may improve with HRT)
* Mood swings
* Sleep disturbance
* Sexual dysfunction
* Myalgia
54
One “bonus” of HRT is:
Reduction of osteoporosis assoc with menopause, and associated #s
55
The anaerobic bacterium ***Treponema Pallidum*** causes:
Syphillis
Microbiologically classified as a spirochete (sp-eye-roh-keet) - (rhymes with parakeet)
56
Describe Stages of *meiosis* (I & II)
→ what we have at the start and end of each
57
What are the 2 major cells in the testes, and what do they do?
Sertoli cells
* Spermatogenesis
Leydig cells
* Testosterone
58
As well as producing sperm, what do the Sertoli cells do?
* Form the “blood testes barrier”
* Segregating the basal lamina to lumen
* This avoids blood contact with the gametes, and avoids any 2ndary immune response that may occur because of this
59
Where and how do the 2 major endocrine hormones react with cells in the testes?
* Luteinizing Hormone (LH) → Leydig Cells
* → Testosterone
* Follicular Stimulating Hormone (FSH) → Sertoli Cells
* → Sperm development
* “Androgen binding protein” → keeps some testosterone intertesticular(as testosterone is hydrophobic)
60
Steps of sperm production:
1. Spermatogonia → 46n, XY → (base cell)
2. Primary spermatocytes → 46n, XY → (via Meiosis I)
3. Secondary Spermatocytes → 23nn, X or Y → (via Meiosis II)
4. Spermatids → 23n, X or Y → (end of Meiosis II → gametes)
5. Spermatozoa (via spermiogenesis → ie, change to nucleus, cytoplasm. Now functional sperm)
61
Key features of sperm for travelling
* Acrosome → contains hydrolyric enzymes, required to penetrate ovum
* Nuclear condensation → “getting lean”, less cytoplasm
* Mitochondrial spiral → ATP
* Flagellum → movement
62
Describe the function of the epididymus
* 400 - 600 seminiferous tubules join to form this
* Single, long coiled duct → continuous with “Ductus Deferens”
* Sperm maturation occurs here → ~ 12 days
* Aquire motility, protein secretions
* Sperm can be stored here for months
63
Function of seminal vesicles
* Add most of volume of semen ~ 70%
* Thick, alkaline fluid
* Fructose & citrate for nourishment
* Prostaglandins for motility → kind of works like coagulant, stick together stay safe
64
Penis erectile tissue includes:
* 2 Corpora cavernosa
* 1 Corpus spongiosum (with urethra)
65
What creates *Dihydrotestosterone?*
66
Describe female hormone levels as they fluctuate throughout the menstrual cycle
67
Define pleitrophy
One genetic mutation has multiple effects in the same organism
eg → marfan syndrome
* unusually tall
* thin fingers & toes
* disloc lens of eye
* cardiac problems → rupture aorta
68
In males, what cells are responsible mainly for testosterone production
LH → Leydig cells
69
In females, what cells are mainly responsible for androstenedione and progesterone
LH → Theca cells
70
Gender split of central precocious puberty
~90% females idiopathic
~75% males have CNS lesion
71
Pathological causes for delayed puberty
* Tumor
* Trauma
* Treatment
72
Describe HDN → Haemolytic Disease of the Newborn
* Happens with Rh (Rhesus) -ve mother, +ve child
* Generally does not happen with first pregnancy
* Occurs after a sensitising event such as:
* Miscarriage \>12w
* Abdominal trauma
* Birth of previous bub
* When Rhesus +ve red blood cells come into contact with mum's B cells, they identify it as foreign and start creating anti rhesus antibodies
* These are small enough to cross the placental barrier, and can cause haemolytic anaemia of the next child → hyperbilirubinaemia
* Complications include:
* Jaundice, brain damage, long term learning difficulties
73
Prevention of HDN (haemolytic disease of the newborn) involves?
Injecting mum with anti-d antibodies if there is a fear of any new sensitising event (with -ve mum and +ve bub)
This “destroys” +ve blood cells in mum before she can become sensitised and launch her own immune response
Give -ve mum anti D injection at any risk of sensitising event
74
3 types of chromosomal abnormalities
* Numerical abnormalities
* Structural abnormalities
* Mosaicism → either numerical or structural abnormalities can be mosaic
75
Describe 4 common subtypes of chromosomal structural changes
Give an eg of each
DDIT
* Deletions
* Deleting part of genetic material from a chromosome
* Often results in miscarriage (unless micro deletion)
* Cystic Fibrosis
* Duplications
* Have duplication of genetic material
* Huntington's Disease
* Inversions
* Info from area of a chromosome has moved - but still on the same chromosome
* Haemophilia
* Translocations
* Genetic info has moved from one chromosome to another
* Ie no genetic material is gained or lost → no problem in somatic cell, but in Gamete can cause problems
* Robertsonian translocation → other cause of Trisomy vs non-disjunction in Meiosis I
76
Describe paternal vs maternal imprinting
Happens when genes are silenced from either Father's (paternal imprinting) or mother's (maternal imprinting)
Different areas are silenced on from either source
Commonly occurs on Chromosome 15
77
Explain Prader Wili and Angleman in terms of imprinting
Some traits of each
_Prader-Willi_ →
Gene zone on chromosome 15 which is imprinted (turned off) on the maternal chromosome has its corresponding *paternal gene area* deleted
Issues with HPA axis in satiety, weight gain and OCD style traits, mild to moderate intellectual impairment,
_Angelman Syndrome_
Gene zone in chromosome 15 which is normally imprinted (turned off) on the paternal side has its corresponding maternal coding zone deleted
Development of key neurological areas in early embryological development are impaired, leading to severe intellectual disability, convulsions
78
Define aneuploidy
Change in chromosome number
Polyploidy → too many (trisomy)
Monoploidy → too few
79
Describe Trisomy 13 and Trisomy 18
Trisomy 13 - Patau's syndome
Trisomy 18 - Edward's syndrome
* 1/5000
* Poor prognosis - often die very young
* Congenital heart defects
* Positive association with maternal age incidence
As with most Trisomies, caused by *Non-disjunction in meiosis* most of the time, but also by *Robertsonian translocation*
80
Describe Trisomy 21
Aka Down's Syndrome
* Non disjunction in meiosis 95% cases (~90% maternal, 5% paternal)
* Unbalanced Robertsonian translocations 2-4%
* 1-4% mosaic karyotype
* 70% of trisomy 21 pregnancies miscarry
81
Common impacts of Trisomy 21
Most
* memory and learning difficulties
* craniofacial alterations
* muscle hypotonia
Some
* congenital heart defects → AV canal defects most common
* leukaemia
* gut abnormalities → Duodenal atresia most common
82
Describe PAR regions on sex chromosomes
Towards the peripheries of the sex chromosomes, these are known as *Pseudo-Autosomal Regions*.
Ie - They act like autosomes and we need two copies from XX or XY to code unlike the remainder of the sex chromosomes which generally just need one copy
Also → Contains SHOX gene, which codes for skeletal development (key involvement in Klinefelter's Syndrome)
83
Describe Klinefelter's syndrome (genetics)
47 - XXY
1/500 → 1/1000
Extra chromosome from meiotic errors in each parent
* Newborn boys asymptomatic
* Dx mid childhood
* Can be assoc with infertility
Normally in males, the Y chromosome tells the X to not turn into a Barr body
In XXY, there is “cross talk” in which the Y is telling an X to not shut down, but the 2nd X is giving mixed messages to the first, telling it to turn into a Barr body.
We end up with triple gene dosage in the PAR region
84
What is a Barr Body?
Inactive X chromosome in a cell with more than 1 X chromosome
eg, In humans with euploidy, a genotypical female (46, XX karyotype) has one Barr body per somatic cell nucleus, while a genotypical male (46, XY) has none.
85
Symptoms Klinefelter's syndrome
Xxy 47
* Language based learning difficulties
* Testosterone deficiency and hypogonadism
* Motor difficulties in strength and running
* 50% have gynaecomastia and increased risk of breast cancer
* Increase in stature, relatively long limbs
86
Describe Turner's syndrome (genetics)
“Monoploidy on X chromosome” → ie 45 X
* 97% all Turner's pregnancies are lost
* 50% result from meiotic error
* Can also be
* 45 X/46 XX mosaicism
* 46 XX with one partially deleted
* Key is that we have lost “Parr region”
87
Symptoms of Turner's syndrome
45 X
**Inherited features**
* Shield shaped chest
* Low hairline
* Wide spacing nipples
* Infertility - oestrogen replacement therapy required to reduce osteoporosis risk
Common internal abnormalities
* Coarction aorta 15%
* Renal malformation 40%
**Acquired Disorders**
* Short stature may be apparent (½ normal dose of Shox gene on PAR region → missing one sex chromosome which codes for height!)
* Growth hormone can add 5-10cm
* Chronic middle ear infections - hearing loss
* Autoimmune disorders such as underactive thyroid and celiac disease
88
Increase in basal body temp seen ~ day 14 of menstrual cycle is due to the effect of:
*Progesterone* increasing the set point temp in the *hypothalamic thermoregulatory centre*
89
Anti mullerian hormone has what effect?
Present in males, it inhibits the development of mullerian ducts into the uterus, cervix, fallopian tubes and upper vagina.
If no AMH is present, the ducts automatically develop, and *wolffian ducts* (aka mesonephric ducts) responsible for male reproductive development die
first 8 weeks gestation
90
McArdle's disease is?
Glycogen storage disease type 5
Muscle glycogen storage disease
* Autosomal recessive
* Deficiency of *myophosphorylase* → cannot breakdown muscle glycogen
* Rhabdomyolysis, Myoglobinuria, may develop acute kidney injury or renal failure due to myoglobinuria
* Can have “2nd wind phenomenon” after 10 minutes of low intensity exercise
91
Von Gierke's Disease is?
Glycogen storage disease type 1
Hepatocytes unable to breakdown glycogen
* Deficiency in *glucose-6-phosphatase* (Ia) or *glucose-6-phosphatase-translocase* (Ib)
* Both types lead to excessive glucose storage in liver and kidneys
* Involves hypoglycaemia, NAFLD, hepatomegaly
92
Glactosaemia is?
Hereditary inability to metabolise galatose
Without Rx, mortality in infants is ~75%
Symptoms include:
* cataracts, ataxia, delayed development
93
Why is exogenous testosterone associated with a reduction in spermatogenesis?
-ve feedback loop to hypothalamus
leading to decreased production of GnRH → less FSH & LH
Thus, less spermatogenesis and testicular testosterone
94
What is enzyme A?
Where is it commonly found?
5α reductase.
High conc. in prostate and skin
95
What is enzyme B?
Where is it commonly found?
Aromatase
High conc. in adipose tissue liver and some brain regions
96
Where is β-HCG secreted from and when does its level peak in pregnancy?
* Syncytiotrophoblastic cells
* Placenta
* Peaks around 10 weeks gestation
97
What is the path of blood from the mother’s heart to the fetus’ heart?
* Aorta → common iliac → internal iliac → uterine arteries → placenta
* Across placenta → fetal umbilical vein → ductus venosus → IVC → heart
98
99
Describe APGAR scores (when, where, how much?)
ASAP after delivery
Again at 5 minutes
total/10
~98% of babies have 7 or higher at 5 minutes
100
2 factors causing jaundice in newborn
* Increased bilirubin production due to decreased lifespan of neonatal red blood cells
* Decreased capacity of the neonatal liver to conjugate bilirubin.
101
How are immunoglobulins in breast milk absorbed in newborn GI tract?
Transcytosis - a form of receptor mediated endocytosis
This allows the immunoglobulin (protein) to enter the infant's bloodstream intact
Most maternal immunoglobulins are IgA
102
7 common genes involved in breast cancer
* PTEN – inhibits PI3K pathway
* P53 – apoptosis; cell cycle regulation, check points etc
* BRCA1 & BRCA2 – MMR in breast cancer
* CDH1 – codes for E-cadherin, functions in cell adhesion to form organised
tissues
* STK11 –tumour activity involved in cell apoptosis and polarisation
* PALB2 –tumour suppressor activity, MMR and homologous recombination
103
Hormonal changes through menstrual cycle and early pregnancy
