Estilo de vida interfere na
genetica e no risco para
doencas
Dr. Jose Claudio Casali da Rocha
Hospital Erasto Gaertner PUC-PR
CGEN – Centro de Genetica
PRATICAMENTE TODAS AS DOENÇAS TÊM UM COMPONENTE
GENÉTICO
FIBROSE CÍSTICA GENÉTICO AMBIENTE DOENÇAS CARDIOVASCULARES AIDSCâncer Esporádico
Mutação,
amplificação
rearranjos,
LOH,
metilação,
…
Síndromes de Câncer Hereditário
Mutação
Esporádico Hereditario
genes desconhecidos
BRCA1 & BRCA2
TP53, PTEN, CHK2, ATM, BRIP1, PALB2, RAD51C, RAD51D, FANC, CDKN2A, CDH1 5-10% 20% 5% 75% 90-95%
62y.
58y. 62y.
58y.
Heredograma: câncer de mama esporádico
Câncer de mama Câncer de ovario
35y. 38y. 44y.
45y.
39y. 53y.
Heredograma: câncer de mama Hereditario
Idade de aparecimento precoce Bilateralidade
Múltiplos membros afetados na família
Outros tumores na família Penetrância variável
Síndrome de Câncer de Mama e Ovário Hereditário
NORMAL MUTADO Gene BRCA1 Deleção CT no codon 157 (17q21) (13q12-q13) I:1 I:2II:1 II:2 II: 3
II:4 II:5 II:6 II:7 II:8 II:9
III:1
II:10
III:2
II:11
III:3 III:4 III:6 III:5
IV:1 IV:2 IV:3 V:1 V:2 IV:4 V:3 V:4 III:7
IV:5 IV:6 IV:7 IV:8 III:8
IV:9 IV:12IV:10 IV:11
PLoS Genet. 2011 July; 7(7): e1002182.
Genetic Anticipation Is Associated with Telomere
Shortening in Hereditary Breast Cancer
Beatriz Martinez-Delgado,#1,2*Kira Yanowsky,#1,2Lucia Inglada-Perez,2,3Samuel Domingo,1,2Miguel Urioste,1,2Ana
Osorio,1,2and Javier Benitez1,2
Cancer Res 2007;67:1415-1418.
Younger Age of Cancer Initiation Is Associated with
Shorter Telomere Length in Li-Fraumeni Syndrome
Uri Tabori,1 Sonia Nanda,1 Harriet Druker,1 Jodi Lees,1 and David Malkin1,2
1Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, and 2Department of Medical Biophysics, University of Toronto, Toronto, Canada
Dieta e Cancer
25% dos canceres poderiam ser evitados com
mudancas na dieta
Cohort: 521.000 >20anos
Recrutamento: de 1993 a 1999
Casos de Cancer: ~26.000
Obitos: ~16.000
Cancer de mama: 6.218
Projeto EPIC
Projeto EPIC
(European Prospective Investigation into Cancer and Nutrition)
The role of endogenous steroid hormones in pre- and post-menopausal breast cancer has been investigated in EPIC
Both estrogens and androgens increase breast cancer risk, while SHBG (Sex Hormone Binding Globulin) decreases risk after menopause.
Overweight and low physical activity increase breast cancer risk after menopause.
On the contrary, before menopause. androgens increase breast cancer risk,
progesterones decrease risk; and SHBG and obesity are NOT associated with risk.
The consumption of fruit and vegetables is NOT associated with breast cancer risk.
Exercicio e cancer
Atividade fisica regular (150 min/semana) reduz
o risco de cancer de mama em ate 30%
Vitamina D e cancer de mama
WHO - Saude
• The World Health Organization (WHO), defines
Health as a state of complete physical, mental, and
social well-being, not simply just the absence of
disease.
• The actual definition of Healthy Living is the
steps,
actions and strategies
one puts in place to achieve
Healthy Living is about taking
responsibility
for your
decisions and making
smart health choices
for today
and for the future. So healthy living would consist of:
•Physical (For the body):
•Good nutrition, eating right
•Getting physically fit, beneficial exercise, •Adequate rest
•Proper stress management.
•Emotional Wellness (For the mind):
•Self-supportive attitudes,
•Positive thoughts and viewpoints •Positive self-image.
• You also need to give and receive:
• Forgiveness,• Love and compassion;
• You need to laugh and experience happiness;
• You need joyful relationships with yourself and others.
• Spiritual Wellness:
• Inner calmness,
• Openness to your creativity, • Trust in your inner knowing.
• And all aspects of one’s self, must work in harmony to achieve wellness, so you need to create a balanced life.