Genetic Breast Cancer Research Articles

Association between genetic risk score for telomere length and risk of breast cancer.

While leukocyte telomere length (TL) has been associated with breast cancer risk, limited information is available regarding the role of genetically-determined TL on breast cancer risk. We investigated whether aggregated TL-associated variants are associated with the risk of breast cancer in 2,865 breast cancer cases and 2,285 controls from the Shanghai Breast Cancer Genetics Study. Six genetic variants, identified through a genome-wide association study (GWAS) of TL in European-ancestry participants, were included in the study. A separate sample [n=1,536, from the Shanghai Women's Health Study (SWHS), for whom information on both phenotypical leukocyte TL and genetic information was collected] was used to evaluate the association of six variants with TL in Asians. Three genetic risk scores (GRSs), based on the number of alleles associated with shorter TL that each individual carries for the six variants, were derived for the study: un-weighted, internally weighted (from the SWHS), and externally weighted (from the European-ancestry GWAS study), and evaluated for their association with breast cancer risk by applying logistic regression analysis. Both internally and externally weighted GRSs were significantly associated with a decreased risk of breast cancer (OR 0.83, 95% CI 0.72-0.95 and OR 0.84, 95% CI 0.74-0.96, respectively, for tertile 3 vs. tertile 1). Non-genetic risk factors for breast cancer (i.e., age, years of menstruation/reproduction, oral contraceptive usage, and BMI) did not modify the association between GRSs and the risk of breast cancer. Our results suggest that short TL, determined by genetic factors, may be associated with a reduced susceptibility to breast cancer.

NCI Launches Large Study of Breast Cancer Genetics in Black Women

NCI Launches Large Study of Breast Cancer Genetics in Black Women

Abstract 1786: One in four Hispanic women with early onset breast cancer carry BRCA1, BRCA2, or PALB2 mutations: Results from a population-based study in South America

Abstract Breast cancer is the leading cause of cancer incidence and mortality among Hispanic women, who are often diagnosed with late stage tumors and are more likely to die after diagnosis when compared to non-Hispanic whites. While strides have been made in understanding Hispanic breast cancer genetics, most studies have been limited to investigating cases from high-risk clinics. In this study, we aimed to assess the prevalence of pathogenic mutations in three most important breast cancer genes (BRCA1, BRCA2 and PALB2) in an unselected Hispanic breast cancer cohort. Initially, six hundred and forty-six unselected Colombian breast cancer cases were screened for four known Hispanic BRCA1/2 mutations by genotyping. Subsequently, cases that remained mutation negative, as well as 186 cancer-free controls, were screened for BRCA1, BRCA2 and PALB2 mutations using targeted next generation sequencing. We identified 67 cases with pathogenic mutations, one case with a likely-pathogenic variant, and 16 carriers of variants of unknown significance. Among the pathogenic mutation carriers, 88.1% harbored a founder mutation (n = 59), which includes the known BRCA1 3450del4 mutation, strikingly found in 32 unrelated cases. Remarkably, we found that 1 in 4 of the cases diagnosed with breast cancer by age 40 years, regardless of family history of cancer, carried a pathogenic mutation. The high frequency of pathogenic mutations in this unselected cohort (10.4%), in particular those with an early age of onset (25.3%), suggests that population-based genetic testing among Hispanic communities can identify most carriers who would otherwise ineligible for testing. Identifying mutation carriers of these genes has implications in clinical management and surveillance for Hispanic women, a population that is vulnerable to breast cancer disparities in the U.S. and Latin America. Citation Format: Anna Marie Tuazon, Mabel Bohorquez, Carolina Ramirez, Paul Lott, Ana Estrada, Angel Criollo, Cathy Wang, Magdalena Echeverry, John Suarez, COLUMBUS Consortium, LaFamilia Consortium, Luis G. Carvajal Carmona. One in four Hispanic women with early onset breast cancer carry BRCA1, BRCA2, or PALB2 mutations: Results from a population-based study in South America. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1786.

Supporting genetics in primary care: investigating how theory can inform professional education

Evidence indicates that many barriers exist to the integration of genetic case finding into primary care. We conducted an exploratory study of the determinants of three specific behaviours related to using breast cancer genetics referral guidelines effectively: ‘taking a family history', ‘making a risk assessment', and ‘making a referral decision'. We developed vignettes of primary care consultations with hypothetical patients, representing a wide range of genetic risk for which different referral decisions would be appropriate. We used the Theory of Planned Behavior to develop a survey instrument to capture data on behavioural intention and its predictors (attitude, subjective norm, and perceived behavioural control) for each of the three behaviours and mailed it to a sample of Canadian family physicians. We used correlation and regression analyses to explore the relationships between predictor and dependent variables. The response rate was 96/125 (77%). The predictor variables explained 38–83% of the variance in intention across the three behaviours. Family physicians' intentions were lower for ‘making a risk assessment' (perceived as the most difficult) than for the other two behaviours. We illustrate how understanding psychological factors salient to behaviour can be used to tailor professional educational interventions; for example, considering the approach of behavioural rehearsal to improve confidence in skills (perceived behavioural control), or vicarious reinforcement as where participants are sceptical that genetics is consistent with their role (subjective norm).

Adherence to Recommended Risk Management among Unaffected Women with a BRCA Mutation.

Identifying unaffected women with a BRCA mutation can have a significant individual and population health impact on morbidity and mortality if these women adhere to guidelines for managing cancer risk. But, little is known about whether such women are adherent to current guidelines. We conducted telephone surveys of 97 unaffected BRCA mutation carriers who had genetic counseling at least one year prior to the survey to assess adherence to current guidelines, factors associated with adherence, and common reasons for performing and not performing recommended risk management. More than half of participants reported being adherent with current risk management recommendations for breast cancer (69%, n=67), ovarian cancer (82%, n=74) and both cancers (66%, n=64). Older age (OR=10.53, p=0.001), white race (OR=8.93, p=0.019), higher breast cancer genetics knowledge (OR=1.67, p=0.030), higher cancer-specific distress (OR=1.07, p=0.002) and higher physical functioning (OR=1.09, p=0.009) were significantly associated with adherence to recommended risk management for both cancers. Responses to open-ended questions about reasons for performing and not performing risk management behaviors indicated that participants recognized the clinical utility of these behaviors. Younger individuals and those with lower physical functioning may require targeted interventions to improve adherence, perhaps in the setting of long-term follow-up at a multi-disciplinary hereditary cancer clinic.

Factors associated with breast cancer genetic knowledge in a local public health district.

e13053Background: Public health (PH) clinics are in the process of optimizing genetic referrals from primary care settings. Adherence to breast cancer genetic screening guidelines depend on patient- and provider-related factors, including knowledge about breast cancer genetics. The objective of this study was to assess factors associated with knowledge about Breast Cancer (BC) genetics among female patients & PH employees across a rural health district. Methods: Cross-sectional study with mixed sampling (convenience & intra stratum systematic randomization) of adult female patients and female PH employees across 12 health clinics in Georgia. Respondents completed a modified, validated BC Genetic Questionnaire (developed from NIH Cancer Genetic Studies Consortium) that assessed socio-demographics, knowledge about BC, interest in genetic screening and Health Belief Model constructs. Factorial analysis of variance and multivariate regression were used compare means & elucidate associations with knowledge sco...

Abstract P1-10-14: Meeting the information and psychosocial needs of young Jewish women at increased risk for or diagnosed with breast cancer

Abstract Background: Approximately 12% of women living in the United States will be diagnosed with breast cancer during their lifetimes. Although breast cancer survival rates are improving, there remain significant impacts upon women's length and quality of life. This includes women already diagnosed with the disease, as well as those who are at increased risk owing to hereditary breast cancer-causing mutations (e.g., BRCA1/2 genes). While all women face formidable challenges posed by the threat of living with or being at increased risk for breast cancer, those of Ashkenazi and Central or Eastern European Jewish descent face additional challenges owing to higher BRCA1/2 mutation prevalence in this population. Amidst calls for population-based screening for hereditary breast cancer risk, much can be learned from the experiences of young Jewish women at risk for and surviving with breast cancer about their information and psychosocial needs. Methods: The present study is a secondary analysis of survey data from 2010 to 2014 originally collected by Sharsheret, a non-profit organization dedicated to serving women of all Jewish backgrounds facing or at risk for breast cancer. The evaluation included measures and metrics of community referral practices, social service/program engagement and satisfaction, and resource needs among the target population (N=555). Only survey items administered across all data collection years were analyzed. Results: Respondents had a M age of 50 years and ∼90% identified as Jewish. Over 1/3 were referred to the organization by family or friends, most often after a breast cancer diagnosis. Within the surveyed population, 25% reported being at risk or confirmed carriers of a BRCA1/2 mutation. Of the education and support programs offered, the greatest level of engagement occurred in the 1-on-1 peer emotional support and health care symposia education programs. Women reported very high levels of satisfaction with the programs and services available, sought additional information and social support services, and noted a strong desire to give back to the community by participating as a peer supporter. Importantly for this high-risk population, women who participated in the organization's breast cancer genetics program were >98% satisfied (on average) with the various evaluated components of the program. Women identified genetic risk information as one of their top needs for future engagement. Conclusion: These data affirm success of the organization's programs, especially in educating Jewish women about breast cancer genetics. Genetic information is increasingly salient among members of the Jewish community, extending to their cultural needs and need for peer support. Women likely responded well to Sharsheret's peer support program as it connects women to those with similar backgrounds, including culture, lifestyle, and medical similarities. Implications of these findings assert that culturally-relevant information and psychosocial services for young Jewish women living with or at risk for breast cancer can be enhanced for larger dissemination to meet the expected growing demand in this high risk community. Citation Format: Silber E, Fleischmann AK, Shoretz R, Johnson AC, Murphy SE, Mays D, O'Neill SC, Tercyak KP. Meeting the information and psychosocial needs of young Jewish women at increased risk for or diagnosed with breast cancer. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P1-10-14.

Abstract P5-10-03: XRAYS (eXamining Relevance of Articles to Young Survivors) program survey of information needs and media use by young breast cancer survivors and young women at high risk for breast cancer

Abstract Women age 45 or under with breast cancer, or who are at high risk for breast cancer, have distinct health risks and needs when compared to their older counterparts. Young women with breast cancer or at high risk for breast cancer need evidence-based, high-quality information to help them make informed decisions about their specific health needs. Interpreting media reports on research findings, including determining the study implications for younger women is often challenging. To help women better understand media coverage of new research, Facing Our Risk of Cancer Empowered (FORCE) developed the CDC-funded XRAYS (eXamining Relevance of Articles to Young Survivors) program. To assure that the XRAYS program is responsive to the community's needs, FORCE launched a survey to assess where young women turn for information about breast cancer and to identify their information needs. The survey examines: how frequently women visit various media sources and health- or cancer-related websites for information on breast cancer screening, treatment, surgery, prevention, genetics, or survivorship; how much the women trust these information sources; whether they have ever tried to share media articles with their health care team and how the team received the information; and at what point(s) during the process of screening, diagnosis, treatment, survivorship and/or risk management respondents actively seek out information from the media. FORCE launched the survey nationally through its network of 50 outreach groups, partner organizations that serve young breast cancer survivors, and via a social media campaign targeting women age 45 and under with, or at high risk for breast cancer. The survey was open March 15 - June 30, 2015. We will report results from over 800 women, age 45 or younger, including those with breast cancer, who have previously had breast cancer, or who are at high risk for breast cancer. Analysis will determine response frequencies and whether information needs and utilization correlate with key demographic variables such as race/ethnicity, education, and income level. We will use correlation and multiple regression analysis to assess patterns in the types of information needed and channels where information is sought. These results will ensure XRAYS materials and dissemination efforts are efficient and responsive to the young breast cancer population's needs, and will inform the broader medical, media and patient advocacy communities about the distinct information needs of this group. Citation Format: Rezende LF, Huynh J, Kramer K, Cranmer M, Schlager L, Pugh-Yi R, Friedman S. XRAYS (eXamining Relevance of Articles to Young Survivors) program survey of information needs and media use by young breast cancer survivors and young women at high risk for breast cancer. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P5-10-03.

Breast MRI radiogenomics: Current status and research implications

Breast magnetic resonance imaging (MRI) radiogenomics is an emerging area of research that has the potential to directly influence clinical practice. Clinical MRI scanners today are capable of providing excellent temporal and spatial resolution, which allows extraction of numerous imaging features via human extraction approaches or complex computer vision algorithms. Meanwhile, advances in breast cancer genetics research has resulted in the identification of promising genes associated with cancer outcomes. In addition, validated genomic signatures have been developed that allow categorization of breast cancers into distinct molecular subtypes as well as predict the risk of cancer recurrence and response to therapy. Current radiogenomics research has been directed towards exploratory analysis of individual genes, understanding tumor biology, and developing imaging surrogates to genetic analysis with the long-term goal of developing a meaningful tool for clinical care. The background of breast MRI radiogenomics research, image feature extraction techniques, approaches to radiogenomics research, and promising areas of investigation are reviewed. J. Magn. Reson. Imaging 2016;43:1269-1278.

The cancer genetics and pathology of male breast cancer.

Male breast cancer (MBC) is an uncommon and poorly understood disease. Recent molecular studies have shown important differences from female breast cancer which are likely to influence treatment strategies from the current female-based management towards a more tailored approach. Significantly more MBCs than female breast cancers arise with an underlying germline cancer predisposition, and display a vastly different penetrance compared with females. Furthermore, the genophenotypical association of basal-like cancer with BRCA1 present in female breast cancer is not observed in male breast cancer. Differences in somatic changes between male and female breast cancer have also been reported, with particular enrichment of PIK3CA mutations and a paucity of TP53 mutations. In general, chromosomal-based changes, in particular regions of gains, are seen more frequently in male than female breast cancer and methylation is seen less frequently. Clinically, several molecular subtypes with prognostic relevance have been described, including chromosomal complex high and methylation high groups, and subgroups with profiling signatures pertaining to epithelial mesenchymal transition and hormonal therapy insensitivity. As with female breast cancer, attention to male specific multicentre trials based on the individual characteristics are needed, together with establishment of reliable preclinical models to understand more clearly the pathogenesis of male breast cancer and improve the general poor outcome of this disease.

Genetics of breast and ovarian cancer

Genetics of breast and ovarian cancer

Breast surgeons' attitudes towards bilateral risk-reducing mastectomy: A National Survey of American Surgeons.

25 Background: Bilateral risk-reducing mastectomy (BRRM) confers the greatest risk-reduction in women at high-risk of developing breast cancer. Uptake of BRRM is influenced by the attitudes of these women as well as the breast surgeons offering these procedures. We surveyed surgeon members of the American Society of Breast Surgeons to assess their attitudes and knowledge. Methods: An International Cancer Risk Communication Study (InCRisC) questionnaire, previously used to assess attitudes of European physicians and surgeons was sent to 2648 members. Personal and occupational characteristics were recorded and knowledge of cancer genetics and attitudes to BRRM were assessed using clinical vignettes. Results: 439 breast surgeons responded. 98% of surgeons actively took a family history of the father. Almost 100% of surgeons reported a positive attitude towards BRRM. Female surgeons and those treating greater than 100 breast cancers a year were predictors of knowledge of breast cancer genetics and a positive attitude towards BRRM. Conclusions: Multiple factors contribute to surgeons' attitudes towards BRRM. Gender of surgeon and workload contribute to theses observed variations.

Imaging Genetics of Breast Cancer

Imaging Genetics of Breast Cancer

A porcine model system of BRCA1 driven breast cancer.

BRCA1 is a breast and ovarian tumor suppressor. Hereditary mutations in BRCA1 result in a predisposition to breast cancer, and BRCA1 expression is down-regulated in ~30% of sporadic cases. The function of BRCA1 remains poorly understood, but it appears to play an important role in DNA repair and the maintenance of genetic stability. Mouse models of BRCA1 deficiency have been developed in an attempt to understand the role of the gene in vivo. However, the subtle nature of BRCA1 function and the well-known discrepancies between human and murine breast cancer biology and genetics may limit the utility of mouse systems in defining the function of BRCA1 in cancer and validating the development of novel therapeutics for breast cancer. In contrast to mice, pig biological systems, and cancer genetics appear to more closely resemble their human counterparts. To determine if BRCA1 inactivation in pig cells promotes their transformation and may serve as a model for the human disease, we developed an immortalized porcine breast cell line and stably inactivated BRCA1 using miRNA. The cell line developed characteristics of breast cancer stem cells and exhibited a transformed phenotype. These results validate the concept of using pigs as a model to study BRCA1 defects in breast cancer and establish the first porcine breast tumor cell line.

Abstract 2780: Evaluation of genetic variants in high and moderate-penetrance breast cancer susceptibility genes in East Asians

Abstract Breast cancer is the most common invasive cancer in females worldwide. Over the past 20 years, pathogenic mutations in high-penetrance genes (BRCA1, BRCA2, PTEN and TP3) and moderate-penetrance genes (CHEK2, ATM, BRIP1, PALB2, RAD51C, STK11, CDH1, RAD50, and NBN) have been identified for breast cancer. Most of these germline mutations were discovered in women of European ancestry. In the present study, we aimed to investigate whether there were additional variants in these genes associated with breast cancer among women of Asian ancestry. Genotype data of up to 584 SNPs from the Breast Cancer Association Consortium (BCAC) including 6,269 cases and 6,624 controls and Shanghai Breast Cancer Genetics Study (SBCGS) including 5,768 cases and 5,703 controls were analyzed. Among 18 reported pathogenic mutations included in the dataset, 12 were monomorphic. Rare allele was observed for the remaining 6 mutations and one of them showed a significant association with P value of 0.0096. Among the remaining SNPs that were not previously reported to be pathogenic, 17 SNPs showed nominal association with P<0.05 in the Asian populations. Notably, SNP rs80359065 in the BRCA2 gene showed significant association with OR (95% CI) of 1.46 (1.15-1.84) and P value of 1.8 × 10−3 in the BCAC, and OR (95% CI) of 1.14 (1.03-1.27) and P value of 1.3 × 10−2 in the SBCGS. In the combined data, the OR (95% CI) was 1.23 (1.13-1.32) and the P value reached 7.0 × 10−5, lower than the bonferroni corrected P value (9.1 × 10−5). This SNP has a minor allele frequency (MAF) of 1% in the present study, more prevalent than reported pathogenic mutations. Another variant in the BRCA2 gene, rs80358978, was also associated with breast cancer with P value of 5.8 × 10−3 in the combined dataset. In the BRCA1 gene, three low-frequency variants with MAF<0.1% were associated with breast cancer, including rs8176085, rs799923, and rs1799950 with P values of 8.7 × 10−4, 1.0 × 10−3, and 5.8 × 10−3, respectively. Two common variants with MAF>10% in the RAD50 gene were also associated with breast cancer with P value of 1.0 × 10−3 and 2.1 × 10−3 for rs17772583 and rs2244012, respectively. Our study identified several new risk variants in the BRCA1, BRCA2 and RAD50 genes in relation to breast cancer risk in East Asian women and showed that many of the previously reported pathogenic mutations in the high/moderate penetrance genes of breast cancer are rare in our study population comprising largely sporadic breast cancer patients of East Asian ancestry. Citation Format: Mi-Ryung Han, Xiao-Ou Shu, Qiuyin Cai, Yu-Tang Gao, Ying Zheng, Kyriaki Michailidou, Joe Dennis, Manjeet K. Bolla, Qin Wang, Ji-Yeob Choi, Mikael Hartman, Daehee Kang, Artitaya Lophatananon, Hui Miao, Keitaro Matsuo, Kenneth Muir, Sulee Sangrajrang, Chen-Yang Shen, Soo Hwang Teo, Anna H Wu, Alison M. Dunning, Paul D. P. Pharoah, Douglas F. Easton, Wei Zheng, Jirong Long. Evaluation of genetic variants in high and moderate-penetrance breast cancer susceptibility genes in East Asians. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2780. doi:10.1158/1538-7445.AM2015-2780

Detection of novel germline mutations for breast cancer in non-BRCA1/2 families.

The identification of the breast cancer susceptibility genes BRCA1 and BRCA2 enhanced clinicians' ability to select high-risk individuals for aggressive surveillance and prevention, and led to the development of targeted therapies. However, BRCA1/2 mutations account for only 25% of familial breast cancer cases. To systematically identify rare, probably pathogenic variants in familial cases of breast cancer without BRCA1/2 mutations, we developed a list of 312 genes, and performed targeted DNA enrichment coupled to multiplex next-generation sequencing on 104 'BRCAx' patients and 101 geographically matched controls in Ireland. As expected, this strategy allowed us to identify mutations in several well-known high-susceptibility and moderate-susceptibility genes, including ATM (~ 5%), RAD50 (~ 3%), CHEK2 (~ 2%), TP53 (~ 1%), PALB2 (~ 1%), and MRE11A (~ 1%). However, we also identified novel pathogenic variants in 30 other genes, which, when taken together, potentially explain the etiology of the missing heritability in up to 35% of BRCAx patients. These included novel potential pathogenic mutations in MAP3K1, CASP8, RAD51B, ZNF217, CDKN2B-AS1, and ERBB2, including a splice site mutation, which we predict would generate a constitutively active HER2 protein. Taken together, this work extends our understanding of the genetics of familial breast cancer, and supports the need to implement hereditary multigene panel testing to more appropriately orientate clinical management.

Hereditary breast cancer: an update on risk assessment and genetic testing in 2015

The last 5 years have brought significant innovation and advancement in the genetics of breast cancer. This clinical opinion aims to summarize and update current approaches to the care of women at risk for a hereditary predisposition to breast cancer. Implications of the BRCA mutation and several other hereditary syndromes will be discussed. Risk assessment and criteria for referral to cancer genetic professionals as well as high-risk screening and prophylactic options will be reviewed. Finally, the newly available genetic cancer panels and implications of mutations in some of these lesser known genes will be discussed. As the field of cancer genetics continues to evolve, the education of medical students, residents, and faculty will be paramount to identify appropriate candidates for genetic counseling and testing in conjunction with cancer genetic professionals.

Mutation screening of PALB2 in clinically ascertained families from the Breast Cancer Family Registry.

Loss-of-function mutations in PALB2 are associated with an increased risk of breast cancer, with recent data showing that female breast cancer risks for PALB2 mutation carriers are comparable in magnitude to those for BRCA2 mutation carriers. This study applied targeted massively parallel sequencing to characterize the mutation spectrum of PALB2 in probands attending breast cancer genetics clinics in the USA. The coding regions and proximal intron-exon junctions of PALB2 were screened in probands not known to carry a mutation in BRCA1 or BCRA2 from 1,250 families enrolled through familial cancer clinics by the Breast Cancer Family Registry. Mutation screening was performed using Hi-Plex, an amplicon-based targeted massively parallel sequencing platform. Screening of PALB2 was successful in 1,240/1,250 probands and identified nine women with protein-truncating mutations (three nonsense mutations and five frameshift mutations). Four of the 33 missense variants were predicted to be deleterious to protein function by in silico analysis using two different programs. Analysis of tumors from carriers of truncating mutations revealed that the majority were high histological grade, invasive ductal carcinomas. Young onset was apparent in most families, with 19 breast cancers under 50 years of age, including eight under the age of 40 years. Our data demonstrate the utility of Hi-Plex in the context of high-throughput testing for rare genetic mutations and provide additional timely information about the nature and prevalence of PALB2 mutations, to enhance risk assessment and risk management of women at high risk of cancer attending clinical genetic services.

Young women and breast cancer: challenges and answers-report from the Sixth Annual International Symposium, Mexico, 20-21 October 2014.

Tómatelo a Pecho, Funsalud, the Harvard Global Equity Initiative, and the Mexican Ministry of Health led a group of institutions in organising the Sixth Annual International Symposium marking breast cancer awareness month in Mexico on 20–21 October 2014. This year’s event, with the theme ‘Young Women and Breast Cancer: Challenges and Answers’, took place at the National Institute of Perinatology in Mexico City.This was the first time the symposium focused almost entirely on young women. The reasons for this emphasis were reported on by many national and global experts, who also presented evidence to show that breast cancer has become a leading cause of death among younger women in Mexico, and conveyed the benefits of early breast cancer detection and the need to create innovative solutions for care and survivorship support for this age group.Over the course of one-and-a-half days, the symposium covered a wide range of topics and perspectives, including the epidemiology, biology, and genetics of breast cancer; challenges; and innovative answers to early detection and the myriad of short- and long-term challenges faced by patients with breast cancer, such as some cutting-edge techniques used to preserve fertility in women undergoing chemotherapy.How the presence of local and global stakeholders will ensure the accountability of the multiple participants already immersed in the various areas of research and activities related to breast cancer. The voices of the Ministry of Health and of other institutions central to the Mexican health system show that there is a political will for work in this area, and there are the means to make a change happen.

A genética do câncer de mama e a pluripotência do gênero

The so-called genetic revolution, developments in the life sciences and the rise of predictive medicine has stimulated social research not only to examine the novel forms of health and identity brought about at these junctures, but has also more recently involved efforts to examine how ‘older’ cultural categories of difference and identity such as race and ethnicity might be given new life by the development of new genetic knowledge and technologies. Gender must be regarded as an equally important category of difference that is also being informed by developments in genomics. In this paper I will examine these questions in relation to this particular area of genomic science and medicine by focusing on a domain known commonly as ‘breast cancer genetics’. The developments explored in this paper can be usefully examined in the light of the notion of ‘pluripotency’ in referring to the diverse and dynamic modes through which female gender has informed, been central to and itself sometimes been transformed in relation to the field of knowledge and technology associated with the BRCA genes.