Publications by authors named "Danielle Vachon"

Background And Objectives: Despite the availability of healthcare and community services dedicated to cancer survivors, these remain underutilized by young adults living with cancer (YAC; aged 18-39). A workshop was organized in Montréal, Canada, to identify the needs of YAC during their post-treatment transition period and explore existing services dedicated to YAC.

Methods: We recruited seventeen stakeholders (N = 17), including seven YAC, to participate in a one-day workshop to consult about best approaches and practices to meet the needs of YAC, post-treatment.

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Article Synopsis
  • This research identifies 290 genetic factors linked to ovarian ageing by analyzing the age at natural menopause in 200,000 European women, highlighting how genetics can influence reproductive lifespan.* -
  • The study reveals that these genetic variants are connected to DNA damage response processes that impact ovarian reserve and depletion rates, suggesting potential therapeutic targets.* -
  • Manipulating these pathways in experimental models showed promise in boosting fertility and extending reproductive longevity, while also indicating benefits and risks for women's overall health, such as improved bone health but increased cancer risk.*
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Health-related quality of life (HRQOL) is an important prognostic patient-reported outcome in oncology. Because prior studies suggest that HRQOL is, in part, heritable, we performed a GWAS to elucidate genetic factors associated with HRQOL in breast cancer survivors. Physical and mental HRQOL were measured via paper surveys that included the PROMIS-10 physical and mental health domain scales in 1442 breast cancer survivors participating in the Mayo Clinic Breast Disease Registry (MCBDR).

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Purpose Women with atypical hyperplasia (AH) on breast biopsy have an aggregate increased risk of breast cancer (BC), but existing risk prediction models do not provide accurate individualized estimates of risk in this subset of high-risk women. Here, we used the Mayo benign breast disease cohort to develop and validate a model of BC risk prediction that is specifically for women with AH, which we have designated as AH-BC. Patients and Methods Retrospective cohorts of women age 18 to 85 years with pathologically confirmed benign AH from Rochester, MN, and Nashville, TN, were used for model development and external validation, respectively.

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Oxic lake surface waters are frequently oversaturated with methane (CH). The contribution to the global CH cycle is significant, thus leading to an increasing number of studies and stimulating debates. Here we show, using a mass balance, on a temperate, mesotrophic lake, that ~90% of CH emissions to the atmosphere is due to CH produced within the oxic surface mixed layer (SML) during the stratified period, while the often observed CH maximum at the thermocline represents only a physically driven accumulation.

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Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.

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Background: Annexin A1 (ANXA1) is a protein related with the carcinogenesis process and metastasis formation in many tumors. However, little is known about the prognostic value of ANXA1 in breast cancer. The purpose of this study is to evaluate the association between ANXA1 expression, BRCA1/2 germline carriership, specific tumor subtypes and survival in breast cancer patients.

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Purpose: Optimal early detection and prevention for breast cancer depend on accurate identification of women at increased risk. We present a risk prediction model that incorporates histologic features of biopsy tissues from women with benign breast disease (BBD) and compare its performance to the Breast Cancer Risk Assessment Tool (BCRAT).

Methods: We estimated the age-specific incidence of breast cancer and death from the Mayo BBD cohort and then combined these estimates with a relative risk model derived from 377 patient cases with breast cancer and 734 matched controls sampled from the Mayo BBD cohort to develop the BBD-to-breast cancer (BBD-BC) risk assessment tool.

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Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS).

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GWAS have identified a breast cancer susceptibility locus on 2q35. Here we report the fine mapping of this locus using data from 101,943 subjects from 50 case-control studies. We genotype 276 SNPs using the 'iCOGS' genotyping array and impute genotypes for a further 1,284 using 1000 Genomes Project data.

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Mitotic index is an important component of histologic grade and has an etiologic role in breast tumorigenesis. Several small candidate gene studies have reported associations between variation in mitotic genes and breast cancer risk. We measured associations between 2156 single nucleotide polymorphisms (SNPs) from 194 mitotic genes and breast cancer risk, overall and by histologic grade, in the Breast Cancer Association Consortium (BCAC) iCOGS study (n = 39 067 cases; n = 42 106 controls).

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Introduction: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.

Methods: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium.

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A 38 year-old man, operated upon two years previously for combined mitral and tricuspid valve disease of rheumatic origin, presented with signs of a severe biological inflammatory syndrome, and a mild proliferative glomerulonephritis (normal complement with exclusively mesangial deposits of IgM, Clq, and C3 on immunofluorescence), which developed slowly over a period of 3 years in the absence of any fever. Blood cultures were always negative, and prolonged antibiotic therapy on two occasions had no effect on the clinical or biological picture. Mitral prosthesis replacement was necessary 6 months after the onset of the affection, a second leakage 16 months later leading to rapidly fatal heart failure.

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