1. PREVELENCE OF CANCER ASSOCIATED GENES IN
BREAST CANCER PATIENTS IN THE HOSPITAL
BASED STUDY FROM SOUTHERN ASSAM
Presented By
Jagadish Hansa
Biotechnology dept.
Assam University,
Silchar

2. What is breast cancer ??
Umberto Veronesi said if India does not put in place a vigorous
mechanism for early detection and an awareness building exercise,
then India will have more breast cancer patient as compare to other
part of world in 2020.
Types of undesired cell
growth in breast:-
Fibroadenoma
Cyst
Abscess
Fibrocystic disease
Tumor
TUMOR

3. Symptoms of breast cancer
 Change in nipple
 Change in direction of nipple
 Eczematous changes of nipple
 Presence of a lump or thickening
 Persistent discomfort and pain
 Change in nipple discharge
 Change in appearance of moles

4. FACTORS EFFECTING BREAST
Simply being a woman is the main risk factor for
Developing breast cancer.
Two types:- sporadic and hereditary breast cancer.
Hereditary cancer is by BRCA1 and BRCA2 gene.
Commonest cause of death for woman (35-55yr).
Age
Family History
Genetic
Factors
Reproductive
History
Radiation
Race Menstrual
Treatment with History
DES

5. BRCA1 - location
 Localized to the long arm of chromosome 17q21.
 Distributed over 100,000 base pairs of DNA.
 24 exons (22 coding + 2 non-coding) which encode a
protein that is 1,863 aa in length.
 BRCT (C-terminal of BRCA) domain
– Consists of 2 conserved BRCT repeats~90-100 amino acids long.
 N-terminal – ring-finger domain where Bard1 protein bind.

6. BRCA2
 Localized to chromosome 13q12-13.
 27 encoding exons distributed over roughly
70 kb of genomic DNA.
 The exons encode a known sequence of
3418 aa length.
 Carriers also have increased risks of
pancreatic, prostate, laryngeal, and ocular
cancers.

7. Normal function!!!
 BRCA 1 and BRCA 2
– Known as breast and ovarian cancer
susceptibility genes
– Tumor suppressor genes
 regulate the cycle of cell division by keeping cells
from growing and dividing too rapidly or in an
uncontrolled way
 inhibit the growth of cells that line the milk ducts in
the breast
– Involved in many other functions including
control of DNA replication and damage repair

8. Abnormal behaviour of BRCA genes
BRCA-1
 Germline mutations within BRCA1 predispose carriers (heterozyg-
otes) to early onset breast and 80% risk of breast cancer.
 Over 100 different mutations are associated with the BRCA1.
 Three main anomalies account for approx. 19% of the mutations:-
1) 185delAG in codon 23, 2) 5382insC on codon 1756, 3) 4184del4 in
codon 1355.
 Mutations found at the 5’ end increased risk of ovarian cancer.
BRCA-2
 BRCA2 mutations confer higher risk of male breast cancer.
 One mutation occur frequently: 6174delT
 Similar statistics for BRCA2 carriers, but later age of onset and
lead to other tumors: gastric, colon, pancreatic, prostate, and
melanoma

10. Thank
you all
for your
kind
attention