Characterization of Lynch syndrome (LS) associated cancers in patients with immune dysfunction.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. 1532-1532 ◽  
Author(s):  
Shahla Bari ◽  
Xia Wang ◽  
Taiwo Ajose ◽  
Jameel Muzaffar
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Age Of Onset ◽  
Immune Dysfunction ◽  
Common Mutation ◽  
Related Condition ◽  
Multiple Cancers ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
Autoimmune Condition

1532 Background: LS is caused by a germline mutation in one of several DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6 or PMS2. Inappropriate immune responses as seen in chronic inflammatory conditions as well as immunodeficiency states confer increased risk of developing cancer. This aim of this study was to evaluate the effect of immune dysfunction on the characteristics of LS associated cancers. Methods: This was a retrospective analysis of LS patients and carriers at two institutions listed above. We evaluated mutational profiles, immune status, age of onset of first and subsequent cancers in this cohort. Results: 106 patients with mutations consistent with LS were included. 72 patients had at least one cancer while 34 were carriers. 44% patients were Caucasian female, 18% white males, 14% African American males, 11% African American females and 10% Hispanic females. Colon cancer (CRC) was the most common cancer (44%) and PMS2 was the most common mutation, noted in 35 patients (33%). Of the 72 patients with LS associated cancer, 18 patients were either immunosuppressed or had an autoimmune condition. Of the 10 patients who had an autoimmune condition ,7 had multiple cancers. Of the 9 patients who were immunosuppressed, 5 had multiple cancers. Out of a total of 18 out of 72 patients who had multiple cancers, 12 (66%) had either an autoimmune condition or were immunosuppressed. CRC was the index cancer in 42% and breast in 33% of patients with multiple cancers. Patients with MSH2 were most likely to have an immune related condition (32%) and accounted for 41% of patients with multiple cancers. The median age of first cancer in this group was 46 years while it was 48.5 years in the population without immune dysfunction (p = 0.2). There was a high prevalence of breast cancer (24%) as a LS associated cancer in our study population. 66% of the patients with PMS2 mutation had breast cancer with a median age of onset of 48 years (62 years for sporadic cancer). Conclusions: Our study is the first to look at the effect of immune dysfunction in LS patients. Immune dysfunction was associated with a higher rate of multiple cancers and was more commonly associated with the MSH2 mutation. It also highlights importance of aggressive screening for breast cancer in LS patients (especially with PMS2 mutation).

scholarly journals Association between Inflammatory Conditions and Alzheimer’s Disease Age of Onset in Down Syndrome

2021 ◽  
Vol 10 (14) ◽  
pp. 3116
Author(s):  
Florence Lai ◽  
Nathaniel Mercaldo ◽  
Cassandra M. Wang ◽  
Giovi G. Hersch ◽  
Herminia Diana Rosas
Keyword(s):  
Down Syndrome ◽  
Age Of Onset ◽  
Vitamin B12 Deficiency ◽  
Inflammatory Conditions ◽  
Increased Risk ◽  
Wide Range ◽  
High Prevalence ◽  
Autoimmune Conditions ◽  
B12 Deficiency ◽  
The Relationship

Adults with Down syndrome (DS) have an exceptionally high prevalence of Alzheimer disease (AD), with an earlier age of onset compared with the neurotypical population. In addition to beta amyloid, immunological processes involved in neuroinflammation and in peripheral inflammatory/autoimmune conditions are thought to play important roles in the pathophysiology of AD. Individuals with DS also have a high prevalence of autoimmune/inflammatory conditions which may contribute to an increased risk of early AD onset, but this has not been studied. Given the wide range in the age of AD onset in those with DS, we sought to evaluate the relationship between the presence of inflammatory conditions and the age of AD onset. We performed a retrospective study on 339 adults with DS, 125 who were cognitively stable (CS) and 214 with a diagnosis of AD. Data were available for six autoimmune conditions (alopecia, celiac disease, hypothyroidism, psoriasis, diabetes and vitamin B12 deficiency) and for one inflammatory condition, gout. Gout was associated with a significant delay in the age of AD onset by more than 2.5 years. Our data suggests that inflammatory conditions may play a role in the age of AD onset in DS. Further studies are warranted.

scholarly journals Promoting Team-Based Exercise Among African American Breast Cancer Survivors

2018 ◽  
Vol 40 (12) ◽  
pp. 1885-1902 ◽  
Author(s):  
Linda B. Piacentine ◽  
Karen M. Robinson ◽  
Leslie J. Waltke ◽  
Judy A. Tjoe ◽  
Alexander V. Ng
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Cancer Survivors ◽  
Breast Cancer Survivors ◽  
Well Being ◽  
Walking Program ◽  
Increased Risk ◽  
Before And After ◽  
Mind Set ◽  
Poor Outcomes

Physical activity benefits the health and well-being of breast cancer survivors (BCS). Yet, many African American survivors do not routinely exercise and have increased risk of poor outcomes. The purpose of this mixed-method study was to identify motivational factors compelling African American BCS to participate in a 14-week team walking program and to intend to continue exercise after the intervention concluded. Focus groups were held with participants ( n = 12) before and after training. Content analysis discovered themes before the intervention: Not wanting to go at it alone, exercise not a life or treatment priority, cancer treatment affected activity, advocates to exercise, and can exercise really help? Four themes postintervention themes included: In the same boat, changed mind-set, improved weight and activity, and overcoming barriers. Physical data verified improvements. Results suggest that a team-based exercise training program may assist in overcoming a sedentary behavior tendency and subsequently improve health among survivors.

FOXP3 GENE POLYMORPHISM IS ASSOCIATED WITH BREAST CANCER IN IRANIAN PATIENTS

2018 ◽  
Vol 40 (4) ◽  
pp. 309-314
Author(s):  
F Arabpour ◽  
A Shafizad ◽  
M Rahimzadeh ◽  
M Norouzian ◽  
N Naderi
Keyword(s):  
Breast Cancer ◽  
Gene Polymorphism ◽  
Age Of Onset ◽  
Estrogen Receptor Status ◽  
Ki 67 ◽  
Foxp3 Gene ◽  
Receptor Status ◽  
Genotype Frequencies ◽  
Increased Risk ◽  
Significant Difference

Aim: Breast cancer (BC) is one of the leading causes of cancer death among women. Recent studies have characterized FoxP3 as a marker of regulatory T cells and an X-linked tumor suppressor gene, which is involved in the pathogenesis of BC. Therefore, we investigated the potential influence of three single-nucleotide polymorphisms (SNPs) of FoxP3 gene on the development of BC in Iranian women. Materials and Methods: The association between FoxP3 rs2232365, rs3761548 and rs4824747 polymorphisms and BC risk was assessed in 124 BC patients and 198 healthy controls using sequence-specific primers. Results: We identified significant difference of rs3761548 in both allele and genotype frequencies between cases and control groups. Our results showed that individuals carrying FoxP3 rs3761548 AA genotype had about 4.3-fold increased risk of BC compared with CC carriers. No significant association was found between rs3761548C>A polymorphism and clinical outcome parameters (age of onset, tumor size, lymph nodes metastasis, tumor stage, progesterone receptor status, estrogen receptor status, Ki-67 status, HER-2 status and duration of disease). Conclusion: This study has provided the first genetic data on the FoxP3 gene polymorphism in south of Iran and proposes the rs3761548 polymorphism of FoxP3 gene as a risk factor, but not a prognostic marker in the development of BC in Iranian population.

scholarly journals +ACA BRCA1 promoter polymorphism confers increased risk of breast cancer among African‐American women

2008 ◽  
Vol 22 (S1) ◽  
Author(s):  
Kristen K. White ◽  
Patricia V. Basta ◽  
Jessica K. Booker ◽  
Robert C. Millikan ◽  
William B. Coleman
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
Promoter Polymorphism ◽  
Brca1 Promoter ◽  
American Women ◽  
Increased Risk

Abstract 4827: A novel FGFR2 haplotype is associated with increased risk of breast cancer in African American women

2010 ◽  
Author(s):  
Priya B. Shetty ◽  
Jill S. Barnholtz-Sloan ◽  
Xiaowei Guan ◽  
Sarah J. Nyante ◽  
Robert C. Millikan
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
American Women ◽  
Increased Risk

Abstract B5: Cultural factors in obesity in African American women at increased risk for hereditary breast cancer

2008 ◽  
Author(s):  
LaShanda Jones Corneille ◽  
Lisa Kessler ◽  
Katherine Schmitz ◽  
Susan Domchek ◽  
Chanita Hughes Halbert
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African American Women ◽  
Hereditary Breast Cancer ◽  
Cultural Factors ◽  
American Women ◽  
Increased Risk

scholarly journals Disparities in Breast Cancer Associated With African American Identity

2021 ◽  
pp. e29-e46
Author(s):  
Erica M. Stringer-Reasor ◽  
Ahmed Elkhanany ◽  
Katia Khoury ◽  
Melissa A. Simon ◽  
Lisa A. Newman
Keyword(s):  
Breast Cancer ◽  
African American ◽  
African Americans ◽  
Quality Care ◽  
Age Distribution ◽  
White Americans ◽  
Younger Age ◽  
Increased Risk ◽  
Triple Negative Phenotype ◽  
Breast Cancer Disparities

Persistent disparities in the burden of breast cancer between African Americans and White Americans have been documented over many decades. Features characterizing breast cancer in the African American community include a 40% higher mortality rate, younger age distribution, greater advanced-stage distribution, increased risk of biologically aggressive disease such as the triple-negative phenotype, and increased incidence of male breast cancer. Public health experts, genetics researchers, clinical trialists, multidisciplinary oncology teams, and advocates must collaborate to comprehensively address the multifactorial etiology of and remedies for breast cancer disparities. Efforts to achieve breast health equity through improved access to affordable, high-quality care are especially imperative in the context of the COVID-19 pandemic and its disproportionately high economic toll on African Americans.

scholarly journals Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer

2005 ◽  
Vol 7 (4) ◽  
pp. 230-238 ◽  
Author(s):  
Lisa Kessler ◽  
Aliya Collier ◽  
Kiyona Brewster ◽  
Chachira Smith ◽  
Benita Weathers ◽  
...  
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Genetic Testing ◽  
African American Women ◽  
Hereditary Breast Cancer ◽  
American Women ◽  
Increased Risk

scholarly journals Interactions Between Adiponectin-Pathway Polymorphisms and Obesity on Postmenopausal Breast Cancer Risk Among African American Women: The WHI SHARe Study

2021 ◽  
Vol 11 ◽  
Author(s):  
Gina E. Nam ◽  
Zuo-Feng Zhang ◽  
Jianyu Rao ◽  
Hua Zhou ◽  
Su Yon Jung
Keyword(s):  
Breast Cancer ◽  
African American ◽  
Breast Cancer Risk ◽  
Cancer Risk ◽  
African American Women ◽  
Postmenopausal Women ◽  
Genetic Variants ◽  
Postmenopausal Breast Cancer ◽  
Serum Adiponectin ◽  
Increased Risk

BackgroundA decreased level of serum adiponectin is associated with obesity and an increased risk of breast cancer among postmenopausal women. Yet, the interplay between genetic variants associated with adiponectin phenotype, obesity, and breast cancer risk is unclear in African American (AA) women.MethodsWe examined 32 single-nucleotide polymorphisms (SNPs) previously identified in genome-wide association and replication studies of serum adiponectin levels using data from 7,991 AA postmenopausal women in the Women’s Health Initiative SNP Health Association Resource.ResultsStratifying by obesity status, we identified 18 adiponectin-related SNPs that were associated with breast cancer risk. Among women with BMI ≥ 30 kg/m2, the minor TT genotype of FER rs10447248 had an elevated breast cancer risk. Interaction was observed between obesity and the CT genotype of ADIPOQ rs6773957 on the additive scale for breast cancer risk (relative excess risk due to interaction, 0.62; 95% CI, 0.32–0.92). The joint effect of BMI ≥ 30 kg/m2 and the TC genotype of OR8S1 rs11168618 was larger than the sum of the independent effects on breast cancer risk.ConclusionsWe demonstrated that obesity plays a significant role as an effect modifier in an increased effect of the SNPs on breast cancer risk using one of the most extensive data on postmenopausal AA women.ImpactThe results suggest the potential use of adiponectin genetic variants as obesity-associated biomarkers for informing AA women who are at greater risk for breast cancer and also for promoting behavioral interventions, such as weight control, to those with risk genotypes.

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