Breast Cancer Screening for Women With Down Syndrome: Lessons Learned

Chicoine, Brian; Roth, Melody; Chicoine, Laura; Sulo, Suela

doi:10.1352/1934-9556-53.2.91

Cited by 13 publications

(8 citation statements)

References 17 publications

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“…By comparison, 2010 U.S. screening rates were 72% for breast cancer, 83% for cervical cancer, and 59% for colorectal cancer, with 21% of U.S. women aged 50−64 years receiving osteoporosis screening in the same time period. 77,78 These findings are unexpected as people with DS have a much higher risk of developing osteoporosis (25%−50% prevalence among adult men and women with DS 79−82 ) than breast cancer (<1% prevalence 83,84 ). In fact, there is ongoing debate regarding the utility of screening mammography in women with DS.…”

Section: Discussionmentioning

confidence: 99%

“…In fact, there is ongoing debate regarding the utility of screening mammography in women with DS. 84 Given case reports of individuals with DS and breast cancer, however, the authors argue that family history and clinical presentation should guide breast cancer screening decisions in women with DS. 85 People with DS are a vulnerable population who benefit from well-supported syndrome-specific recommendations.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Low Rates of Preventive Healthcare Service Utilization Among Adolescents and Adults With Down Syndrome

Jensen

Campagna

Juaréz-Colunga

et al. 2021

American Journal of Preventive Medicine

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Low Rates of Preventive Healthcare Service Utilization Among Adolescents and Adults With Down Syndrome

Jensen

Campagna

Juaréz-Colunga

et al. 2021

American Journal of Preventive Medicine

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“…Studies assessing genetic and environmental modifiers that may influence these risks are warranted. How the low rates of certain solid tumors, like breast cancer, should affect cancer screening among survivors of childhood cancer with have been raised …”

Section: Discussionmentioning

confidence: 99%

“…How the low rates of certain solid tumors, like breast cancer, should affect cancer screening among survivors of childhood cancer with have been raised. 45 The lack of an available comparison group of individuals with DS without leukemia prevents us from determining whether the chronic conditions are due to DS or the leukemia therapy. The fact that more chronic conditions were present before 5 years from diagnosis suggests that these conditions may be related more to DS than to the cancer therapy.…”

Section: Survivors Of Leukemia With Down Syndrome/goldsby Et Almentioning

confidence: 99%

Long‐term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report

Goldsby

Stratton

Raber

et al. 2017

Cancer

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Leukemia survivors with DS have therapy-related chronic health conditions comparable to those of similarly treated survivors without DS, with a few notable exceptions: 1) an increased risk of cataracts, hearing loss, and thyroid dysfunction compared with survivors without DS (though these are known risks in the DS population), 2) decreased risk of second cancers, and 3) increased risk of severe or multiple conditions. Practitioners should be aware of these risks during and after therapy. Cancer 2018;124:617-25. © 2017 American Cancer Society.

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“…Records of 684 women and results of 993 mammograms were reviewed, including 902 screening and 93 diagnostic mammograms. The study found that only 0.7% women with DS had been diagnosed with breast cancer [8]. In line with the above reports, Martel-Billard et al studied trisomy 21 and breast cancer and concluded that chromosomal abnormality of DS protects against breast cancers via genetic mechanisms [9].…”

Section: Introductionmentioning

confidence: 90%

Down’s Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship

Dey

Krie

Klein

et al. 2017

IJMS

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Down’s syndrome (DS), the most common genetic cause of significant intellectual disability in children and adults is caused by the trisomy of either all or a part of human chromosome 21 (HSA21). Patients with DS mostly suffer from characteristic tumor types. Although individual patients of DS are at a higher risk for acute leukemia and testicular cancers, other types of solid tumors including breast cancers are mostly uncommon and have significantly lower-than-expected age-adjusted incidence rates. Except for an increased risk of retinoblastomas, and lymphomas, the risk of developing solid tumors has been found to be lower in both children and adults, and breast cancer was found to be almost absent (Hasle H., The Lancet Oncology, 2001). A study conducted in the United States found only one death when 11.65 were expected (Scholl T et al., Dev Med Child Neurol. 1982). A recent study examined mammogram reports of women with DS treated in the largest medical facility specifically serving adults with DS in the United States. It was found that only 0.7% women with DS had been diagnosed with breast cancers (Chicoine B et al., Intellect Dev Disabil. 2015). Here we describe a case of breast cancer in a 25-year-old patient with DS. The disease was presented as lymph node positive carcinoma with alterations of tumor suppressor genes characteristic to the triple negative breast cancer subtype. Comprehensive Genomic Profiling (CGP) revealed a wild-type status for BRCA1. The CGP report showed a frameshift mutation, A359fs*10 of the tumor suppressor gene INPP4B and another frameshift mutation, R282fs*63 of tumor suppressor gene TP53 in the tumor biopsy as characteristically found in triple-negative breast cancers. The VUS (Variance of Unknown Significance) alteration(s) were identified in ASXL1 (L1395V), NTRK1 (G18E), DDR2 (I159T), RUNX1 (amplification), ERG (amplification), SOX2 (T26A), FAM123B (G1031D), and HNF1A (A301T). Bonafide cancer-related genes of chromosome 21 amplified in the patient’s tumor are RUNX1 and ERG genes. After the completion of the radiation, the patient was placed on everolimus which was based on the result of her CGP report. Thus, post-mastectomy radiation therapy was completed with a recommendation for everolimus for one year. During the time of writing of this report, no metastatic lesions were identified. The patient currently has no evidence of disease.

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Breast Cancer Screening for Women With Down Syndrome: Lessons Learned

Cited by 13 publications

References 17 publications

Low Rates of Preventive Healthcare Service Utilization Among Adolescents and Adults With Down Syndrome

Low Rates of Preventive Healthcare Service Utilization Among Adolescents and Adults With Down Syndrome

Long‐term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report

Down’s Syndrome and Triple Negative Breast Cancer: A Rare Occurrence of Distinctive Clinical Relationship

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