Additional data for breast cancer surveillance in women with Down syndrome Daniel Satgé MD, PhD1 Clotilde Mircher MD2 Brigitte Trétarre MD3 Marie-Odile Réthoré MD2 1Pathology, University Hospital, Saint Etienne, France and ONCODEFI Project,IURC Montpellier France 2Institut Jérôme Lejeune, Paris, France 3Hérault Cancer Registry, Montpellier, France World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer in the general population Breast cancer is the most frequent tumor in women in the world. One women on 9 will be diagnosed with breast cancer during her life in France.
More than half of breast cancer are diagnosed after 65 years in industrialized countries.
Breast cancer is the second cause of cancer death in the world.
World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer in women with intellectual disability
Globally breast cancer seems as frequent in women with intellectual disability as it is in the general population Patja et al Finland 2001
SIR at 0.90 (CI 95% 0.6-1.3)
Sullivan et al Australia 2004 SIR at 0.69* (CI 95% 0.43-1.06) * Possible underestimation linked to underutilization of screening service World Down syndrome Congress 2012 August 14-17 Cape Town SA Risk factors for breast cancer in women with intellectual disability General population Intellectual disability Nulliparity Overweight (after menopause) Sedentarity Familial history of breast cancer World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer risk is not similar for all women with intellectual disability Conditions with increased risk Cerebral palsy Cowden syndrome Saethre Chotzen syndrome Type1 neurofibromatosis Conditions with similar risk ??? Conditions with decreased risk Down syndrome +++ Fragile-X syndrome World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer frequency in women with Down syndrome Incidence studies
Hasle et al 2000 (Denmark) 0/7.3 (CI 95% 0.0-0.41) Patja et al 2006 (Finland) 6/15.4 (CI 95% 0.1-0.8) Sullivan et al 2007 (Australia) 0/? World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer frequency in women with Down syndrome Mortality studies Scholl et al 1982 (USA) 1/11.7 (CI ?) Satgé et al 2001 (France) 5/69 (CI ?) Yang et al 2002 (USA) 25/(625) (CI 95% 0.03-0.06)
World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer in women with Down syndrome
Published cases 1968-2012 Incidence studies
Only 2 case reports provide clinical World Down syndrome Congress 2012 details. August 14-17 Cape Town SA Breast cancer in all intellectual disabilities/ Down syndrome
Whereas breast cancer seems to occur at a similar frequency in women with intellectual disability and in the general population, epidemiological studies suggest a reduced frequency in women with Down syndrome. This suggests that the supernumerary 21 chromosome could have a protective effect on breast cancer occurrence. World Down syndrome Congress 2012 August 14-17 Cape Town SA Factors increasing breast cancer risk in women with Down syndrome
- Nulliparity - Oxidative stress - Overweight after menopause - Premature aging - DNA repair anomalies (mild) Thoracic X-rays for respiratory infections - Immune deficiency (mild) World Down syndrome Congress 2012 August 14-17 Cape Town SA Factors decreasing breast cancer risk in women with Down syndrome Reduced estrogen exposure In utero: decreased maternal estriol levels Decreased estradiol levels during cycle Early menopause Decreased oral contraception Decreased menopause hormonal treatment World Down syndrome Congress 2012 August 14-17 Cape Town SA Protective genetic factors
Studies of loss of heterozygosity and of comparative hybridization suggested genes protecting against breast cancer on 21 chromosome ANA (BTG3) TIAM1 ETS2 DSCR1, DYRK1A angiogenesis inhibition S100B
And others… World Down syndrome Congress 2012 August 14-17 Cape Town SA
Men with Down syndrome develop less frequently gynecomastia compared to men with other intellectual disabilities [Sabeen et al 1971] World Down syndrome Congress 2012 August 14-17 Cape Town SA
syndrome have significantly smaller mammary buds compared to non-Down syndrome fetuses [Petrikovska et al 1996] World Down syndrome Congress 2012 August 14-17 Cape Town SA Experience at the Institut Jérôme Lejeune, Method All women, aged 20 years or more included years 1998-2012 (some patients since 1955)
40% from Paris 55% from other towns in France 5% from other countries
Histologically proven cancers World Down syndrome Congress 2012 August 14-17 Cape Town SA Institut Jérôme Lejeune experience Results 889 women aged 20 to 73 years
Corresponding to 4272 person-years
4 breast cancers after 1998 1 breast cancer before 1998 Expected number of breast cancer after 1998 16.45 (for 4 cases observed) World Down syndrome Congress 2012 August 14-17 Cape Town SA Breast cancer in women with Down syndrome at the Institut Jérôme lejeune
25 years type1 neurofibromatosis + DS 59 years mother with breast cancer 53 years mother with breast cancer
menopause hormonal ttt 3 yrs
52 years oral contraception 10 yrs 40 years tuberculous pleurisy World Down syndrome Congress 2012 August 14-17 Cape Town SA Note 1: Although genetic conditions favoring breast cancer occur in around 5-10% of women with breast cancer in the general population 3/5 patients in this series had a family history or a genetic favoring condition Note 2 The mean age at diagnosis was 46 years, whereas it is 61years in the general population World Down syndrome Congress 2012 August 14-17 Cape Town SA
In the medical literature only one other case is documented: Bernardino et al 1997. There was also a familial predisposition to cancer (B Dutrillaux personal communication). Together with our observations this suggests that in case of familial cancer the supernumerary chromosome 21 does not seem to protect against breast World Down syndrome canceroccurrence. Congress 2012 August 14-17 Cape Town SA
1) Women with Down syndrome have a reduced frequency of breast cancer which remain to be more precisely assessed
2) Women with Down syndrome are more vulnerable to ionizing radiations (X-rays)
3) In this series tumors occurred at a lower mean age compared to the general population (to be confirmed)
4) A supernumerary 21 chromosome does not seem to protect in case of familial- World Down syndrome genetic predisposition to breast cancer. Congress 2012 August 14-17 Cape Town SA Breast cancer monitoring in women with Down syndrome
A mode of monitoring is necessary Palpation? Mammography? Echography?
Which may be different from that in the general population
An earlier awareness is warranted
For patients with familial/genetic predisposition, women should be followed similarly to other family members World Down syndrome Congress 2012 August 14-17 Cape Town SA Thank you for your attention Acknowledgments
The Fondation Jérôme Lejeune supports the study on cancer in people with Down syndrome World Down syndrome Congress 2012 August 14-17 Cape Town SA
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Clinical Microbiology Prepared plated media (Vitalmedia Series) Isolation media for general bacteria Isolation media for Haemophilus spp. Isolation media for gram-positive bacteriaIsolation media for Bordetella pertussis Isolation media for Moraxella (Branhamella) catarrharis Isolation media for gram-negative bacteriaMicrobial count media from food materials Twin-plate Tw
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