Posts tagged ‘breast cancer risk’

Women, who are considered to have a breast or ovarian cancer risk often miss diagnosing it early enough. This could well be for the fact that the family history on the father’s side is often not taken into account.

Researchers associated with Lancet Oncology say that the women are more likely to refer to the disease on their mother’s side of the family. Consequently, the incidences of women having maternal histories of cancer are referred almost five times more than others by their family doctors.

A charity associated with cancer in the UK also stated that the history of the father is often overlooked especially when it is a case of breast or ovarian cancer. Studies have revealed that almost 5% to 10% of such cancers are usually associated with genetic inheritance. A significant amount of the genetic risk manifests itself as a BRCA1 or BRCA2 defect. This is associated with the possibility of the concerned woman being diagnosed by breast or ovarian cancer in her life time.

A woman having a family history of cancer is therefore at a risk and can take the necessary precaution by being referred for genetic testing in order to find out whether she has the defect.

Jeanna McCuaig, the leader of the research team and attached to the Princess Margaret Hospital, Toronto  found out that in spite of the chances of inheriting a defective gene from the father and mother being 50-50, the maternal history is the only one taken into consideration most of the time. A study of records from their own clinic showed the disparity in referral rates.

The reason for overlooking the paternal history might be due to ignorance feel the researchers. McCuaig stated knowing of two prominent cases where the women concerned were falsely reassured despite having a history of BRCA2 gene mutation and incidences of breast/ovarian cancer in their paternal families.

Dr Caitlin Palframan said that it was important to understand the importance of paternal family history of cancers as the faulty genes can be inherited from either side of the family.


The findings by a team of international researchers under the leadership of the Mayo Clinic researchers show that individuals possessing a number of variants to the mutated BRCA1 gene face an increased risk of developing breast cancers. The findings have been published in the current issue of ‘Nature Genetics’.

The results of the study will help to determine the degree of risk for each BRCA1 gene carrier, states Fergus Couch, the investigator at Mayo Clinic and senior author of the study. It is also likely to provide useful insight into the hormone receptor linked to negative breast cancer among the general population.

It has been known that the genetic mutations within the BRCA1 gene put the carriers at risk for developing breast cancers. The researchers tried to determine whether the variations of mutated genes could alter the risk factor appreciably. Genome wide association studies were conducted in 20 different research centers spanning 11 countries around the globe.

The first study was a comparison of 550,000 human genome alterations in 1,193 carriers with breast cancer and 1,190 carriers without the invasive cancer of the breast. Both sets of carriers were under the age of 40. This led to the discovery of 96 single nucleotide polymorphisms (SNPs) which was corroborated by carrying out the same study in a larger context comprising of 3,000 carriers with breast cancer and 3,000 without. The researchers could isolate 5 SNPs associated with breast cancer risk from the region of the chromosome 19p13.

By observing these SNPs in a further 6,800 breast cancer patients without the mutated BRCA1 gene, the scientists found that the cancerous tumors were without estrogen receptors. Study of the 5 SNPs in another 2,300 breast cancer patients were found to be linked to the triple-negative breast cancer which is one of the most aggressive forms of cancer and accounts for 12% of all breast cancer incidences. The researchers could also ascertain that the SNPs had no link with the ovarian cancer in BRCA1 mutation carriers.