Tuesday, 21 November, 2017

An Unprecedented Study Has Revealed 72 New Breast Cancer Gene Variants

Pixabay Pixabay
Tracy Craig | 25 October, 2017, 00:54

Breast cancer is the second most common cancer among women in the USA -affecting one in every eight-but researchers recently found a difference between breast tissue of healthy women versus those with breast cancer that could lead to new kinds of treatment.

'As well as identifying new genetic variants, we have also confirmed many that we had previously suspected. Seven of the mutations found lead to a type of breast cancer that doesn't respond to traditional hormonal therapies, like tamoxifen.

Crestwood Medical Center and WDRM teamed up for a breast cancer awareness concert Monday night. Fortunately, today's breast cancer screening technology has advanced tremendously since 1985, and since I was diagnosed with cancer more than 11 years ago.

"There are many different types of breast cancer and all of those have different reasons why they develop".

However the discovery of 73 new genes not known about previously now put the total contribution of our genes to a breast cancer diagnosis at 18 per cent.

Professor Doug Easton, one of the lead investigators from Cambridge University, said: 'These findings add significantly to our understanding of the inherited basis of breast cancer.

'There are some clear patterns in the genetic variants that should help us understand why some women are predisposed to breast cancer, and which genes and mechanisms are involved'. "This should provide guidance for a lot of future research".

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The newly identified risk regions almost double the number that are already known, thereby bringing the number of known common variants associated with breast cancer to around 180.

However, not all cancer cells carry this receptor - these are known as oestrogen-receptor negative.

"We knew about 100 before, it is a big contribution but probably more important than the number is the methods we developed", she said. The studies identified genetic regions specifically associated with either oestrogen-receptor positive or oestrogen receptor negative breast cancer, underscoring the fact that these are biologically distinct cancers that develop differently.

"Many women are offered mammogram screening when they are middle-aged, but if we know a woman has genetic markers that place her at higher risk of breast cancer, we can recommend more intensive screening at a younger age", says Chenevix-Trench.

Mutations in these genes prevent them from repairing changes in other sections of DNA in breast tissue, raising the risk of further mutation.

How much can the newly identified genes predict about breast cancer risk?

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