Breast/colon cancer -blanch

mendilan mut

DOM, bilateral, early onset

sporadic mut

reccessive, unilateral, late onset

breast cancer-stats

1-12
1-3 (if someone has it under 40 in fam)
5-10% is single gene

DCIS

High risk for breast cancer if untreated)

non-invasive (unless u dont treat)

LCIS

pre-cancerous
risk for bilateral b-cancer

BRCA1 and BRCA2
-what kind of cancer
%'s

Hereditary Breast Ovarian

50% of herditary b-cancer
90% of familiar segregaton

TP53

Li-Fraumeni Syndrome

PTEN

Cowden Syndrome

papllia around mouf

Peutz Jeghers Syndrome-gene

STK11

Bilateral breast cancer is a slight predictor for

same with male b-cancer

BRCA1 and BRCA2 mutations

Chrome for BRCA1

17

Chome for BRAC2

13

Men b-cancer?

BRAC2

Biallelic mutations of BRCA2 gene
casue what type of anemia

Fanconi Anemia (FA)

Microcephaly, congenital heart disease
Aplastic anemia (Bone marrow fails to produce blood cells including red an white as well as platelets)

LOCUS hertogenity

Gene test results (Positive)

you def got that shit

Gene test results (Variant of uncertain significance
)

got some missense...dont know if its one of the problems

Gene test (negative-Known family istory)

TRUE negative (but your chances dont go to zero)

Gene test (negative-unknown family istory)

Mutation unknown within the family – this results is considered as an uninformative result, remember the testing does not detect 100% of mutations

colon rectal cancer-stats

3rd most common w/ men

RF for CRC

adenomas - beign tumors
High-fat, low-fiber diet
Aging

FAP

1%
more then 100 polyps
AD

FAP gene

APC
5q chrom

FAP - polyps

w/ 100 polyps
90% penetrances

Upper GI probs too

untreatd poly 100% cancer

HPNCC - LYNCH syndrome

5%
early onset 20's
FEW POLYPS
right side colon damage

HPNCC - GENE

MMR - mismatch repair

or

TSG's
MSH2, MLH1, MSH6, PMS2

microsat check for which disorder

HPNCC
95% multiple loci

Peutz-Jeghers syndrome (PJS)

Hamartomatous (benign tumor like) polyps of GI tract as early as 1st decade

small intestines

Mucocutaneous hyperpigmentation - on lips