Access : Mutation analysis of RAD51D in non-BRCA1|[sol]|2 ovarian and breast cancer families : British Journal of Cancer

Access : Mutation analysis of RAD51D in non-BRCA1|[sol]|2 ovarian and breast cancer families : British Journal of Cancer

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

Abstract

Background:

Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families.

Methods:

The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions.

Conclusion:

RAD51D should be included in genetic screening of ovarian cancer families that do not have BRCA1/BRCA2 mutations. We show that mutations are more likely to be found in families with two or more ovarian cancers, or in probands with first-degree relatives with ovarian cancer, and we feel testing should be preferentially offered to affected women from such families.

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Increased risk of other cancers for relatives of women with early onset breast cancer | e! Science News

Published: Wednesday, September 29, 2010 - 18:23 in Health & Medicine

 

Close relatives of women diagnosed with breast cancer before the age of 35 years are at an increased risk of developing other cancers, according to a University of Melbourne study, published in the British Journal of Cancer today. Professor John Hopper, Director of Research from the Centre for Molecular, Environmental, Genetic and Analytic Epidemiology at the University of Melbourne, Australia, a lead investigator in the study, said these are surprising and novel findings which could be pointing to the existence of a new cancer genetic syndrome.
"The results suggest there could possibly be undiscovered genes causing breast cancer in these young women, and perhaps other cancers in their families," Professor Hopper said.
Every year in Australia, more than 300 women are diagnosed with breast cancer before the age of 35 years. This is approximately one in 40 of all breast cancers.
In the largest population based study of its kind, scientists studied 2200 parents and siblings of 500 women diagnosed with breast cancer before the age of 35 from across three countries, Australia, Canada and the United States.
After excluding families with mutations in BRCA1 and BRCA2, the two known major breast cancer susceptibility genes, they found that close relatives were at increased risk of not only breast cancer, but also of cancers of the prostate, lung, brain and urinary tract.

The results showed:

• Fathers and brothers had a 5-fold increased risk of prostate cancer.
• Mothers and sisters had a 2-fold increased risk of ovarian cancer as well as a 4-fold increased risk of breast cancer
• Close relatives also had a 3-fold increased risk for brain cancer, an 8-fold increased risk for lung cancer, and a 4-fold increased risk for urinary tract cancers.

"We wanted to find out what caused the early onset of breast cancer in these women and found some results we weren't expecting regarding their relatives," Professor Hopper said.
"The results of this study could help scientists discover new cancer susceptibility genes that explain the risk of early-onset and other cancers within some families," he said.
"Our next step is to conduct larger studies to further clarify these results."