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Family history: Research, news and issues

March 2016

Factors affecting uptake and adherence to preventive therapy for breast cancer

Researchers from the UK and the U.S. have undertaken an analysis of 26 studies which explored the use of preventive therapy by women at an increased risk of breast cancer. Preventive therapy may include drugs such as tamoxifen and raloxifene, as research has shown that these drugs can reduce the risk of breast cancer developing in women who are at higher than normal risk. 

A total of 21,423 women were included in the researchers’ analysis. The researchers ultimately found that the use of preventive therapy by women was approximately 16.3%. When exploring what factors impacted women’s use of preventive therapy, they found that women who were involved in a clinical trial were more likely to be using preventive therapy compared to those that were not (25.2% of women compared to 8.7% of women respectively), as were women who had an ‘abnormal breast biopsy’. A number of studies also found that women with a ‘heightened’ perception of their personal risk of breast cancer were more likely to use preventive therapy than those who viewed their risk as low. 

The researchers also found that women at an increased risk of breast cancer who had received a recommendation from a doctor were more likely to be using preventive therapy. However, the researchers noted that a recommendation from a doctor may not enough; instead, ‘discussions about the risks and benefits of preventive therapy’ are important. The researchers also noted that women’s concern about the side effects influenced their use of preventive therapy. Ultimately, the researchers highlighted the importance of good communication about preventive therapy to help women at increased risk of breast cancer make informed decisions about what would be best for them.  

Source: Smith, S. et al. (2016). ‘Factors affecting uptake and adherence to breast cancer chemoprevention: a systemic review and meta-analysis,’ Annals of Oncology, doi: 10.1093/annonc/mdv590.

November 2015

Breast Cancer in Young Women and the ‘Angelina Jolie effect’

In October 2015, the Australian Institute of Health and Welfare (AIHW) released the report Breast cancer in young women: Key facts about breast cancer in women in their 20s and 30s. The report provides information about the characteristics of breast cancer in young women, the treatments young women have and women’s outcomes.

Approximately 80 women aged 20 to 29 and 715 women aged 30 to 39 were diagnosed with breast cancer in Australia in 2015. The report found differences in treatment among women aged 20 to 39 compared to women aged 40 and above. In 2013-14, 22%  of women aged 20 to 39 had breast conserving surgery compared to 30% of women aged 40 and above, and 20% of women aged 20 to 39 had a mastectomy compared to 16% of women 40 and above. Also, more women in their 20s and 30s had a breast reconstruction than to women aged 40 and over (17% compared to 8%).

One of the report’s key findings was that the number of women in Australia aged 20 to 39 who had a risk-reducing mastectomy increased substantially between 2012-13 and 2013-14. While 99 women aged 20 to 39 years had a risk reducing mastectomy in 2012-13, 227 women opted to do so in 2013-14. This increase has been attributed to the ‘Angelina Jolie effect’ after Angelina Jolie publically discussed the fact that she carried the BRCA1 gene and had a double mastectomy to reduce her risk of developing breast cancer.[1]

When discussing this report, CEO of Cancer Australia Professor Helen Zorbas said, ‘I think there is a role which can be responsibly used by celebrities not only providing information but demonstrating that taboo or disconcerting subjects can be discussed’.[2]  However, Professor Zorbas also noted, ‘Hopefully these mastectomies were performed on women who were at high risk and after appropriate counselling and information.’[3]

For more information on the report, please visit the AIHW website.

For more information about familial breast cancer, please visit BCNA’s website or download BCNA’s Family history fact sheet.

Source: Australian Institute of Health and Welfare 2015. Breast cancer in young women: key facts about breast cancer in women in their 20s and 30s.Cancer series no. 96. Cat. no.CAN 94. Canberra: AIHW.

[1] Dunlevey, S. (2015, October 25). ‘Angelina Jolie breast surgery doubles in Australia.’ News Corp Australia Network. Retrieved from http://www.news.com.au/lifestyle/health/health-problems/angelina-jolie-breast-surgery-doubles-in-australia/news-story/018c98763fa50003b3661e24b466c534.
[2] Ibid.
[3] Ibid.

April 2015

Risk-reducing surgery

American researchers have conducted a study aimed at exploring the attitudes of women at high risk of breast or ovarian cancer toward risk-reducing surgery before undergoing any genetic counselling.  

In total, 696 women aged between 21 and 85 years with at least a 10 per cent risk of carrying a BRCA1 or BRCA2 gene mutation participated in the study. The researchers conducted an initial interview, in which participants were asked about their perceptions of their risk of breast or ovarian cancer, prior knowledge of genetics, distress they may have been experienced, whether they felt conflicted about having genetic counselling, and their overall quality of life. They were also asked about whether they were considering having surgery to reduce their risk of breast or ovarian cancer.

Participants were then randomly assigned to either standard genetic counselling or telephone genetic counselling.

The researchers found that 23 per cent of participants had been considering having a risk reducing mastectomy and 43 per cent were considering having a risk reducing oophorectomy (surgery to remove the ovaries) before they underwent genetic counselling.

The researchers found that women who were younger, had been in education longer, had higher levels of cancer-related distress, and had a higher perception about their risk of breast cancer were more likely to be considering having a risk reducing mastectomy.

When exploring the factors that impacted women’s intention to have surgery to remove their ovaries, the researchers found that women who were older, who were married and women who had a higher perception of their risk of ovarian cancer were more likely to be considering the surgery before undergoing counselling.

Because factors such as cancer-related distress and women’s perceptions about their risk of cancer were found to impact women’s decisions about whether to have surgery, the researchers noted the importance of genetic counselling to help women understand more about their actual risk of developing cancer and to assist women make decisions about managing their risk.  

July-October 2014

Impact of PALB2 Gene

Researchers in Australia, the U.S., the U.K. and elsewhere conducted a study analysing the risk of breast cancer in a total of 362 individuals (from 154 families) who were found to have a mutation in the PALB2 gene.

The study included 311 were women and 51 men. 229 women and seven men had been diagnosed with breast cancer.

With regard to the risk of developing breast cancer, the researchers found the following:

  • Women aged up to 40 years who carry a PALB2 gene mutation have a risk of breast cancer that is eight to nine times higher than the general population;
  • Women aged 40 to 60 years who carry a PALB2 gene mutation have a risk of breast cancer that six to eight times higher than the general population;
  • Women aged 60 years and over who carry a PALB2 gene mutation have a risk of breast cancer that is five times higher than the general population.

The researchers also found that by the age of 70, a woman carrying the PALB2 gene mutation who has two first-degree relatives diagnosed with breast cancer before they were 50  has a breast cancer risk of 58 per cent, while a woman carrying the gene mutation with no affected relatives has a breast cancer risk of 33 per cent.  

Ultimately, the study found that mutations in the PALB2 gene are an important cause of familial breast cancer. The researchers recommend that larger studies must be conducted to further understand the increased risk of breast cancer caused by PALB2 gene mutations.

May-June 2014

Impact of Oophorectomy on gynaecological cancer risk

A large Canadian study has investigated the impact of oophorectomy (the removal of the ovaries) on women with a BRCA1 or BRCA2 gene mutation.

The researchers aimed to find out the reduction in risk of ovarian, fallopian tube, and peritoneal cancer in women with a BRCA1 or BRCA2 mutation after oophorectomy.

5,783 women with a BRCA1 or BRCA2 mutation were identified from an international registry. Each participant completed two questionnaires – one at the beginning of the study and one at follow-up.

After an average follow-up period of 5.6 years:

  • 132 women had been diagnosed with ovarian cancer (2.3 per cent)
  • 22 women had been diagnosed with fallopian tube cancer (0.4 per cent)
  • 32 women had been diagnosed with peritoneal cancer (0.5 per cent)

The researchers conclude that oophorectomy resulted in an 80 per cent reduction in the risk of developing ovarian, fallopian tube, or peritoneal cancer in women with a BRCA1 or BRCA2 gene mutation.

February 2014

Arimidex reduces risk in high-risk postmenopausal women

Findings from a large international clinical trial suggest that Arimidex effectively reduces the risk of breast cancer in high-risk postmenopausal women.

Between 2003 and 2012, 3864 postmenopausal women aged 40—70 years were recruited from 18 countries. Around half the women in the trial were randomly assigned to receive Arimidex (1920 women) while the other half received a placebo (1944 women).

After an average follow-up period of five years, 40 women in the Arimidex group (2 per cent) and 85 in the placebo group (4 per cent) developed breast cancer.

After seven 7 years, cumulative incidence of breast cancer was predicted to be 2.8 per cent in the Arimidex group and 5.6 per cent in the placebo group.

The researchers conclude that Arimidex treatment effectively reduces the risk of breast cancer in high-risk postmenopausal women.

November 2013

Uptake of risk-reducing measures

Australian researchers have found that the uptake of cancer risk-reducing measures in Australian women carrying a BRCA1 or BRCA2 mutation could be increased.

Women with a known BRCA mutation who had not had a diagnosis of cancer were enrolled into the study between 1997 and 2012.

One hundred and seventy-five women with a BRCA1 mutation and 150 women with a BRCA2 mutation were included in the study. The average age of participants at the beginning of the study was 37 years.

Twenty-one per cent (69 women) opted to have a risk-reducing mastectomy, 38 per cent (125 women) opted to have a risk-reducing salpingo-oophorectomy (the removal of the fallopian tubes and ovaries) and three per cent (nine women) received risk-reducing medication while enrolled in a clinical trial.

After an average of nine years of follow-up, 21 per cent (68 women) were diagnosed with cancer (including 52 breast cancers and nine ovarian cancers).

The researchers conclude that the uptake of cancer risk-reducing measures in Australian women carrying a BRCA1 or BRCA2 mutation could be increased.

September 2013

Ten year survival rate of young women with BRCA1 mutation

Researchers have found that the 10 year survival rate of young women diagnosed with breast cancer who have a BRCA1 gene mutation is similar to those without a BRCA1 mutation.

3,345 women diagnosed with early breast cancer at or before the age of 50 were enrolled into the Canadian trial. Two hundred and thirty-three participants (7 per cent) had a BRCA1 gene mutation, while the remaining women did not.

The researchers found that 80.9 per cent of the women with a BRCA1 gene mutation were still alive after ten years, which was similar to the 82.2 per cent of women without the gene mutation. Women with a BCRA1 mutation who had a small tumour (measuring less than 2cm) and were lymph node negative, had a 10 year survival rate of 89.9 per cent. The researchers also found that women with the gene mutation who had an oophorectomy (surgical removal of the ovaries) had an improved rate of survival.

The researchers concluded that the ten year survival rate of women diagnosed with breast cancer who have a BRCA1 gene mutation was similar to those without the mutation.

August 2013

Tamoxifen an option for high risk women

New research has found that the breast cancer drug tamoxifen reduces the risk of breast cancer in women who are at high risk due to an inherited BRCA1 or BRCA2 gene mutation.

Tamoxifen is widely used in women who have been diagnosed with hormone positive breast cancer to reduce their risk of breast cancer recurring, and is also used to reduce the risk of breast cancer in women who have a strong family history of breast cancer. Until now, however, there has been little information about whether it can also reduce the risk for women at high risk because of a BRCA1 or BRCA2 gene mutation.

An international study, led by Melbourne-based medical oncologist Professor Kelly-Anne Phillips, recruited 2,500 women from Australia, Europe and North America who had an inherited BRCA1 or BRCA2 gene mutation and who had been diagnosed with breast cancer, and treated them with tamoxifen. The study found that their risk of developing a new breast cancer was halved.

These findings give women who carry a BRCA1 or BRCA2 mutation a new option for reducing their risk of breast cancer.

‘In the past, the only way of reducing breast cancer risk for these high-risk women was to do invasive surgery to remove their breasts and/or ovaries,’ Professor Phillips said. ‘For women who choose not to undergo such surgery, or who would prefer to delay surgery until they are older, tamoxifen could now be a viable alternative.’

Women who carry a BRCA1 or BRCA2 gene mutation and who are interested in options to reduce their risk should talk to a member of their treatment team.

July 2013

Recent webinar discusses breast cancer in the family

Only 5-10% of breast cancer is caused by a known genetic mutation or a strong family history, however recent media attention on this topic has resulted in an increase in interest relating to breast cancer in the family. Cancer Council Victoria, with support from BCNA, recently held an online webinar to address some of these questions. Lucinda Hossack, Clinical Genetic Counsellor at Peter MacCallum Cancer Centre, was the guest speaker. A significant amount of time was allocated for questions and discussion.

  • The webinar is available on YouTube and runs for almost fifty minutes.

June 2013

Decision aids may help women decide whether preventive tamoxifen suits them

Tamoxifen is a hormone drug recommended for many women with hormone positive breast cancer. Tamoxifen may also work to reduce the risk of breast cancer developing in women with a significant family history of the disease.

Although there are no current guidelines for using tamoxifen in high risk women in Australia, the UK and USA are currently considering if doctors should be routinely recommending the drug to these women.

Researchers developed a web-based decision aid designed to help women make a decision about whether to take tamoxifen. Postmenopausal women, aged 46-74, who had never had breast cancer participated in the study. The researchers found that using the decision aid helped to inform the women about what the decision would mean for them, and empowered women to choose the treatment strategy that best reflected their own needs and values.

Tamoxifen, like all drugs, has side effects and is not suited to all women. If you have a high risk of developing breast cancer and are interested in taking tamoxifen, you may like to talk to your doctor. You can also read BCNA’s Family History fact sheet for more information about hereditary breast cancer.

April 2013

Some high risk women experience long-term psychological distress

Researchers have looked at the long-term psychological distress experienced by some women at risk for hereditary breast cancer. They were keen to discover ways to identify women at an increased risk of distress. This may help health professionals identify and support women at a high risk of distress in the future.

197 women participated in the study, and were followed for about eight years. All women were having regular medical and self-check-ups for breast cancer.

Their coping styles, amount of family history, perception of breast cancer risk and how often they self-examined their breasts were all considered in the study.

The researchers found that, generally, the following features may predict increased long-term distress in women at a high-risk of hereditary breast cancer:

  • A particular type of coping style described as passive. At a very basic level, this may be thought of as a sense of hopelessness.
  • Excessive breast self-examination.
  • Overestimation of the risk of developing breast cancer.

They noted that women who cope by using reassuring thoughts were less likely to experience long-term distress. This research will help health professionals to assist and support women at a high risk of long-term distress.

March 2013

Adolescent girls and perception of breast cancer risk

A US study has looked at how well adolescent girls understand the risks of developing breast cancer. 
Fifty-four girls between the ages of 11 and 19 were interviewed about their knowledge of breast cancer.  35 girls (65%) were classified as high risk (if they had a parent with a BRCA1/2 mutation or at least one first-degree or second-degree relative with breast cancer).

Some of the interesting findings from the study include:

  • Only 17% of girls were aware of BRCA1/2 genes
  • The majority of girls (76%) who were at high risk knew that they were at increased risk for breast cancer. However, only 22% of the girls with no family history or known genetic mutation thought they were at risk.
  • Half of the girls reported that women can get breast cancer before 20 years old.
  • The mother was the most frequently reported source of information for breast cancer among high-risk (97%) and the remaining girls (89%).
  • The majority of girls believed there are things women and girls can do to prevent breast cancer.

The researchers noted that the girls’ responses were likely to have been influenced by media reports of breast cancer in young women.  They also highlighted the finding that mothers are an important source of information about breast cancer for girls.

It was noted that with future research, health professionals and families may benefit from understanding what adolescent girls know about breast cancer risks.  The researchers noted the need to further investigate the impact of this on their emotional well-being.

February 2013

UK recommends high risk women take Tamoxifen

You may have seen some media attention recently about a recommendation in the UK that women at a high risk of developing breast cancer should take tamoxifen. 

The UK’s National Institute of Health and Clinical Excellence (NICE) has released a consultation paper asking for feedback from interested stakeholders, which includes a draft recommendation that tamoxifen could be given to high risk women for up to five years.

The paper states that ‘’high risk women’’ includes women with a sister and a mother or aunt diagnosed with breast cancer before the age of 50.  Emerging research suggests that taking tamoxifen could reduce their risk of developing breast cancer.

Tamoxifen is not routinely prescribed as a preventative drug in Australia.  The benefits of taking tamoxifen may not outweigh the risks of taking this drug for all women. If you think a member of your family may be interested in taking tamoxifen to reduce their risk of developing breast cancer, she may like to discuss this with her doctor.

The final recommendations from the NICE are expected to be released later this year.  BCNA will keep up to date with the progress of this issue and its relevance to Australian women in the future.

November 2012

Women describe their self-identity based on their family history of breast cancer

Research findings recently published in the Cancer Nursing journal highlight that women at a higher risk of developing breast cancer describe their own identity based on their family history of breast cancer.

The small study included 20 women at a higher risk of developing breast cancer. Women participated in open-ended interviews and were asked questions about their experiences living at a high risk.

The researchers found that women describe their self-identity based on their family history of breast cancer. Their high risk also influenced their behaviour, which included seeking care from hereditary cancer experts.

Study explores Indigenous Australians’ interest in identifying family cancer risk

Australian researchers have explored the level of interest that Indigenous Australians have toward identifying cancer risk in their family.

The research team interviewed 225 Indigenous cancer patients, who were mainly female (56%) with an average age of 53. 73% of participants reported having a family history of cancer and, of these, half reported having a first degree family member diagnosed with cancer.

68% of the study participants expressed concern about their relatives being affected by cancer, and 55.2% said that they would like to discuss cancer risk in their family with a genetic counsellor.

October 2012

Young women with a known BRCA mutation share their concerns

Research recently published in the American Journal of Nursing has investigated the emotional wellbeing and concerns of young women who have a known BRCA mutation. Forty-four women who live in America and Canada were interviewed and each was asked to discuss issues they faced as a result of their known BRCA mutation.

The researchers found that the young women who were not partnered tended to be concerned about when to disclose their genetic risk in intimate relationships. Partnered women expressed concern at being less than ‘perfect’ to their partners.

They also found that, for women with children, their main concern was feeling a sense of responsibility to stay alive for their children, and some of these women spoke about choosing risk-reducing surgery sooner rather than later for this reason. Some women with children also described feeling guilty at possibly passing the BRCA mutation onto their children, and a few women even said that this led to a decision to limit the number of children they had. However, none of the women in the study regretted the choice to have children. Young women without children were mainly concerned with the need to have children by a particular age.

Of the women in the study who had a breast cancer diagnosis and learnt of their BRCA mutation after their diagnosis, many expressed the need to have a prophylactic mastectomy of the other breast.

September 2012

BRCA gene mutation carriers exposed to chest X-rays at increased risk of breast cancer

An international study has found that women with a BRCA gene mutation are more likely to develop breast cancer if they are exposed to chest X-rays before the age of 30.

The study, which included almost 2,000 women with BRCA gene faults from the Netherlands, France and the UK found that the women who were exposed to chest X-rays were 43% more likely to develop breast cancer, compared with women with BRCA gene faults who were not exposed. The researchers found no increased risk for women with gene mutations who were exposed to chest X-rays over the age of 30.

The researchers state that women with BCNA mutations are less likely to be able to repair DNA damage caused by radiation, so they are at a greater risk of developing breast cancer. The researchers conclude that doctors should be aware of this increased risk when considering medical tests that use chest X-rays.

For more information on this research, visit the Cancer Research UK website.

August 2012

Genetic counselling reduces distress in women

American researchers have found that women who are given genetic counselling before a genetic test are better off than those who are not.

The research included 103 women who received genetic counselling before their genetic test. Each participant met with a trained genetic health professional who discussed the woman’s family history of breast cancer and provided a risk assessment.

Those who received counselling before their breast surgery reported a decrease in feelings of distress and intrusive thoughts, while those who received counselling after their surgery experienced better informed decision-making. Both groups of women displayed increased cancer knowledge after counselling.

  • To read more about this research, visit this page.

July 2012

Preimplantation genetic diagnosis (PGD) for BRCA1/2 mutations shows good success rates

Researchers in Belgium and the Netherlands have found that preimplantation genetic diagnosis (PGD) can be used to screen for BRCA1 and BRCA2 mutations, with good success rates.

PGD is a procedure where embryos are tested for known genetic mutations (like BRCA1 and BRCA2 mutations) before being used during IVF implantation. This means that the resulting baby will not inherit these mutations.

The researchers reviewed 145 PGD cycles for BRCA1/2 mutations in 70 couples - the largest review of this kind conducted in Europe. The researchers found that almost 60% of BRCA mutation carriers were women, and two thirds of the mutations found were BRCA1. 26% of the women who were carrying a BRCA1/2 mutation had undergone a prophylactic bilateral mastectomy.

Of the embryos that were tested, 43.1% had a BRCA1/2 mutation, and 40.7% did not have a mutation and could be used for implantation. The remaining embryos had other abnormalities or were inconclusive. The overall pregnancy rate was 29%.

The researchers concluded that while PGD can completely remove the risk of the offspring developing breast cancer as a result of a BRCA1/2 mutation, it does not eliminate the risk of developing breast cancer for some other reason. These offspring still have the risk of developing breast cancer just by chance (for every nine women in Australia, one will develop breast cancer before the age of 85).

June 2012

Women with known gene mutation more likely to choose risk-reducing mastectomy of the other breast

Researchers recently investigated the factors that influenced whether women choose to have a risk-reducing mastectomy (sometimes called a prophylactic mastectomy) of the other breast, after undergoing genetic testing for a known breast cancer mutation.

The researchers, from the University of Texas M.D. Anderson Cancer Centre in the USA, recruited 165 women with DCIS to the study. They found that women who tested positive for a known breast cancer mutation were more likely to choose a risk-reducing mastectomy of the other breast, compared with those who did not have a known mutation, or those who did not undergo genetic testing. The researchers also found younger women and those with a family history of ovarian cancer were also more likely to choose a risk-reducing mastectomy of the other breast.

The researchers presented these findings at the recent American Society of Clinical Oncology (ASCO) annual meeting. They concluded that more studies were needed to investigate women’s perceived risk of developing breast cancer in the other breast, as this may explain the high number of women who chose to have a risk-reducing mastectomy.

  • To read the abstract for this research, visit the ASCO website.

May 2012

Nine new genes associated with breast cancer found

Research published in the science and medical journal Nature has outlined the discovery of 9 new genes that are involved in the development of breast cancer. These genes are called ‘driver genes’ which means that they drive the development of cancer.

The researchers made this discovery after investigating the genes within 100 different breast cancer tumours. They also stated that most breast cancers contained different combinations of the mutated driver genes, contributing to the diversity of breast cancer as a disease.

The researchers highlight that these findings could lead to the development of new breast cancer treatments. It should be noted however, that it will be a long time before any new treatments could be available.

April 2012

New breast cancer gene discovered

A large international study led by University of Melbourne researcher Melissa Southey has led to the discovery of a new gene which, if containing one of two mutations, leads to an increased risk of developing breast cancer in women. The study investigated families with a family history of breast cancer but without a known gene mutation, and found that those with a mutation in the XRCC2 gene were more susceptible to developing breast cancer.

The researchers used a technology called 'massively parallel sequencing' which allows DNA to be sequenced at high speed. Further work is being conducted around the world to determine how many cases of breast cancer result from a mutation in the XRCC2 gene.

Do genetic risk assessments really help?

The delivery of cancer genetic risk assessment services has been reviewed by The Cochrane Breast Cancer Group. According to the review, risk assessment is the first step in the process in supporting those who visit family cancer clinics.

The review found that those who participated in a risk assessment more accurately understood their risk of developing breast cancer, had a better understanding of breast cancer and genetics, and had reduced anxiety and improved emotional wellbeing overall.

The authors of the review conclude that there are too few studies into the best way to deliver a cancer genetic risk assessment, and that further research is needed in this area.

March 2012

Risk management for women with a strong family history of breast cancer, but with no known genetic mutation

University of Melbourne researchers have examined how women with a strong family history of breast cancer, but without a known genetic mutation, understand their risk of developing breast cancer. This study also explores how their understanding is related to breast screening behaviour.

The results showed that women were classified into one of five groups, including women who:

  • don’t worry about cancer risk, but participate in screening anyway
  • are concerned about cancer risk, and participate in screening 
  • are concerned about cancer risk, but do not participate in screening
  • feel that developing cancer is inevitable (some had mammograms, others did not)
  • feel that developing cancer is unlikely (some had mammograms, others did not)

Given the main source of advice for many of these women was their general practitioner, the researchers highlighted the importance of general practitioners being informed about the resources and appropriate support services available to these women.

Women with BRCA1 gene mutation respond better to chemotherapy before surgery

Research from the University of Texas in the United States was conducted to determine whether women with a BRCA gene mutation respond to treatment differently than women without mutations. The research found that, in 46% of women with a BRCA1 gene mutation, all traces of breast cancer were removed after neoadjuvent chemotherapy (which is chemotherapy given before surgery, to shrink a tumour) regardless of their stage of disease. In comparison, neoadjuvent chemotherapy removed all traces of breast cancer in 13% of women with a BRCA2 gene mutation, and 22% of women with no gene mutation.

The results from this small study highlighted that BRCA1 breast cancers were more responsive to anthracycline and taxane-based chemotherapy drugs than BRCA2 cancers or those with no gene mutation. Whilst the results are interesting, the researchers recommend that larger studies be conducted to confirm the findings.

Women in the United States with genetic mutations being diagnosed earlier than older family members

Research from The University of Texas, has found that women diagnosed with a BRCA1 or BRCA2 genetic mutation are being diagnosed with breast cancer nearly eight years earlier than older relatives. The researchers identified 132 women who had been involved in a clinical cancer genetics program from 2003-2009, who had a BRCA gene mutation, and who had been diagnosed with breast cancer.

After reviewing the women’s medical family tree, the researchers found that 106 women had a family member in the generation before them who had been diagnosed with breast or ovarian cancer. Women in the younger generation on average were diagnosed at age 42 compared to age 48 in the generation beforehand.

The researchers highlighted that women with a BRCA mutation should be screened in light of the American guidelines (including mammography, MRI and possibly prophylactic mastectomy). It also highlighted that the use of MRI screening in the younger generation could account for women being diagnosed at a younger age.