Breast cancer genes

SB3j Homework 2
The techniques developed during the Human Genome Project (HGP) have helped to identify over 1800
disease-related genes. These techniques have been improved so they are now far quicker and cheaper to do
than when the project started. This has made it possible to analyse many genomes and look for variation within
the genes related to disease.
Two genes that are related to breast cancer were identified before the HGP was completed. These are the
BRCA1 and BRCA2 genes. Both genes produce proteins (BRCA1 and BRCA2 – shown in upright letters to
distinguish the protein from the gene) that normally help repair damaged DNA, particularly in breast tissue.
Damaged cells are more likely to develop into cancers than healthy cells are. This can occur in men as well as
women, although women are at greater risk as they have many more breast cells than men.
Many differences have been found in these genes between different people. Some differences are the result of
one or more changes to the DNA base pairs in the gene. Certain variations affect the risk of developing breast
cancer, as shown in the table.

Proportion of woman having Bases in the relevant section of

breast cancer before age 80 DNA code
BRCA1 BRCA2 BRCA1 BRCA2
normal 12% 12% CAGTGTCCT TCTATATTC
allele
allele X 12% 12% CAGTGCCCT TCTATCTTC
allele Y 60–90% 45–85% CAGAGTCCT TCTACATTC

Women with breast cancer receive a range of treatments, often including drugs. Herceptin is a drug that targets
cancer cells that are producing a lot of the HER2 protein. These kinds of cancer cells are found in about
15–30 per cent of breast cancers. Herceptin is not only very expensive, it can also be poisonous to heart cells.
1 Describe the main aim of the Human Genome Project.
2 a Which name is given to the process that produces a new allele of a gene?
b When does this process usually happen?
c Use evidence from the table to identify how alleles X and Y for each gene have changed from the
normal (most common) version.
3 Explain how the normal alleles of the BRCA1 and BRCA2 genes help to prevent the development of breast
cancer.
4 a Explain why some variations in the BRCA genes change the risk of developing breast cancer.
b Suggest why some variations in these genes do not change the risk of developing breast cancer.
5 a Explain how a genome test could help identify the risk of developing breast cancer.
b Explain how a genome test could help identify how breast cancer could be treated.
6 Allele Y shown in the table for both BRCA genes is dominant to other alleles.
a Use a Punnett square to show the probability of inheriting a high risk of breast cancer from a father who
is heterozygous for allele Y for BRCA1 and a mother who is homozygous recessive for this gene (has
no copies of allele Y).
b Suggest why young women in a family with a history of breast cancer might choose to have a genome
test for the BRCA genes.

Extra challenge
7 Explain how a genome test cannot identify whether a person will or will not develop breast cancer before
they are 80.
8 Suggest a reason for the values for the ‘normal’ version shown in the table above