Family history of breast and ovarian cancer and triple negative subtype in hispanic/latina women.

Familial breast and ovarian cancer prevalence was assessed among 1150 women of Mexican descent enrolled in a case-only, binational breast cancer study. Logistic regression was conducted to compare odds of triple negative breast cancer (TNBC) to non-TNBC according to family history of breast and breast or ovarian cancer among 914 of these women. Prevalence of breast cancer family history in a first- and first- or second-degree relative was 13.1% and 24.1%, respectively; that for breast or ovarian cancer in a first-degree relative was 14.9%. After adjustment for age and country of residence, women with a first-degree relative with breast cancer were more likely to be diagnosed with TNBC than non-TNBC (OR=1.98; 95% CI, 1.26-3.11). The odds of TNBC compared to non-TNBC were 1.93 (95% CI, 1.26-2.97) for women with a first-degree relative with breast or ovarian cancer. There were non-significant stronger associations between family history and TNBC among women diagnosed at age <50 compared to ≥50 years for breast cancer in a first-degree relative (P-interaction = 0.14) and a first- or second-degree relative (P-interaction = 0.07). Findings suggest that familial breast cancers are associated with triple negative subtype, possibly related to BRCA mutations in Hispanic/Latina women, which are strongly associated with TNBC. Family history is an important tool to identify Hispanic/Latina women who may be at increased risk of TNBC, and could benefit from prevention and early detection strategies

A qualitative investigation of breast cancer survivors’ experiences with breastfeeding

This is an exploratory, qualitative investigation of breast cancer survivors’ experiences with breastfeeding. Previous studies have focused on the physiology of lactation after surgery and treatment, but have not explored factors influencing breastfeeding decisions and behavior. We used purposeful sampling to identify 11 breast cancer survivors who had a child after their diagnosis and treatment. Participants were recruited from among those in the Women’s Healthy Eating and Living (WHEL) study and a Young Survival Coalition (YSC) affiliate. We conducted semi-structured, open-ended telephone interviews lasting 45–75 min. We used social cognitive theory (SCT) to structure questions regarding influences on breastfeeding behavior. We transcribed interviews and used cross-case, inductive analysis to identify themes. Ten of 11 participants initiated breastfeeding. The following main themes emerged: 1) Cautiously hopeful, 2) Exhausting to rely on one breast, 3) Motivated despite challenges, 4) Support and lack of support, and 5) Encouraging to others. Study participants were highly motivated to breastfeed but faced considerable challenges. Participants described problems that are not unique to women with breast cancer, but experienced these to a much greater degree because they relied mostly or entirely on one lactating breast. This study revealed a need for improved access to information and support and greater sensitivity to the obstacles faced by breast cancer survivors. Results of this qualitative analysis indicate that interventions to support the efforts of breast cancer survivors who are interested in breastfeeding are warranted. Additional research would aid in the development of such interventions

Randomized trial of a phone- and web-based weight loss program for women at elevated breast cancer risk: the HELP study

Excess weight and physical inactivity are modifiable risk factors for breast cancer. Behavioral intervention is particularly important among women with an elevated risk profile. This trial tested an intervention that trained women to use a self-monitoring website to increase activity and lose weight. Women with BMI≥27.5 kg/m(2) at elevated breast cancer risk were randomized to the intervention (N=71) or usual care (N=34). The intervention group received telephone-based coaching and used web-based self-monitoring tools. At 6 months, significant weight loss was observed in the intervention group (4.7% loss from starting weight; SD=4.7%) relative to usual care (0.4% gain; SD=3.0%) (p<.0001). By 12 months, the intervention group had lost 3.7% of weight (SD=5.4%), compared to 1.3% (SD=4.2) for usual care (p=.003). At 12 months, accelerometer-measured moderate-to-vigorous physical activity increased by 12 min/day (SD=24) compared to no change in usual care (p=.04. In summary, this web- and phone-based approach produced modest but significant improvements in weight and physical activity for women at elevated breast cancer risk

FGFR1 and NTRK3 actionable alterations in “Wild-Type” gastrointestinal stromal tumors

BACKGROUND: About 10–15% of adult, and most pediatric, gastrointestinal stromal tumors (GIST) lack mutations in KIT, PDGFRA, SDHx, or RAS pathway components (KRAS, BRAF, NF1). The identification of additional mutated genes in this rare subset of tumors can have important clinical benefit to identify altered biological pathways and select targeted therapies. METHODS: We performed comprehensive genomic profiling (CGP) for coding regions in more than 300 cancer-related genes of 186 GISTs to assess for their somatic alterations. RESULTS: We identified 24 GIST lacking alterations in the canonical KIT/PDGFRA/RAS pathways, including 12 without SDHx alterations. These 24 patients were mostly adults (96%). The tumors had a 46% rate of nodal metastases. These 24 GIST were more commonly mutated at 7 genes: ARID1B, ATR, FGFR1, LTK, SUFU, PARK2 and ZNF217. Two tumors harbored FGFR1 gene fusions (FGFR1–HOOK3, FGFR1–TACC1) and one harbored an ETV6–NTRK3 fusion that responded to TRK inhibition. In an independent sample set, we identified 5 GIST cases lacking alterations in the KIT/PDGFRA/SDHx/RAS pathways, including two additional cases with FGFR1–TACC1 and ETV6–NTRK3 fusions. CONCLUSIONS: Using patient demographics, tumor characteristics, and CGP, we show that GIST lacking alterations in canonical genes occur in younger patients, frequently metastasize to lymph nodes, and most contain deleterious genomic alterations, including gene fusions involving FGFR1 and NTRK3. If confirmed in larger series, routine testing for these translocations may be indicated for this subset of GIST. Moreover, these findings can be used to guide personalized treatments for patients with GIST. Trial registration NCT 02576431. Registered October 12, 2015 ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12967-016-1075-6) contains supplementary material, which is available to authorized users

The psychosocial impact of lymphedema-related distress among breast cancer survivors in the WHEL Study.

ObjectiveLymphedema is a distressing and chronic condition affecting up to 30% of breast cancer survivors. Using a cross-sectional study design, we examined the impact of self-reported lymphedema-related distress on psychosocial functioning among breast cancer survivors in the Women's Healthy Eating and Living Study. The Women's Healthy Eating and Living Study has a dataset that includes self-report data on lymphedema status, symptoms, and distress.MethodsChi-square tests and binary logistic regression models were used to examine how specific participant characteristics, including lymphedema-related distress, were associated with physical health and mental health as measured by the SF-36-Item Health Survey and depressive symptoms assessed by the Center for Epidemiologic Studies Depression Scale screening form.ResultsOf the 2431 participants included in the current study population, 692 (28.5%) self-reported ever having lymphedema. A total of 335 (48.9%) women reported moderate to extreme distress as a result of their lymphedema and were classified as having lymphedema-related distress. The logistic regression models showed that women with lymphedema-related distress had 50% higher odds of reporting poor physical health (p = 0.01) and 73% higher odds of having poor mental health (p &lt; 0.01) when compared with women without lymphedema. In contrast, even though lymphedema-related distress was significantly associated (p = 0.03) with elevated depressive symptoms in the bivariate analyses, it was not significant in the logistic regression models.ConclusionBreast cancer survivors with lymphedema-related distress had worse physical health and mental health outcomes than women with lymphedema who were not distressed and women with no lymphedema. Our findings provide further evidence of the relationship between lymphedema and psychosocial outcomes in breast cancer survivors

Addressing Hereditary Cancer Risk at the End of Life

Oncology guidelines clearly outline evidence-based recommendations for patients with newly diagnosed cancer to help oncologists determine which patients are appropriate for a genetic assessment. Ideally, patients with newly diagnosed cancer, who have personal or family histories suggestive of hereditary cancer predisposition, are referred for genetics work up in the nonurgent setting. However, in some cases, a genetics work up is delayed until the end of life. This is a time of heightened stress and additional obstacles, including discordance between family members regarding the obtainment of genetic information, paying for testing, selecting a surrogate to receive and disperse information in the case of a patient's death, and the use of DNA banking for future evaluation. To meaningfully participate and support patients, family members, and our colleagues facing requests at the end of life for genetic testing, we provide a practical approach and highlight resources to effectively engage in this rising challenge