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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

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PRATICAMENTE TODAS AS DOENÇAS TÊM UM COMPONENTE

GENÉTICO

FIBROSE CÍSTICA GENÉTICO AMBIENTE DOENÇAS CARDIOVASCULARES AIDS

(4)

Câncer Esporádico

Mutação,

amplificação

rearranjos,

LOH,

metilação,

(5)

Síndromes de Câncer Hereditário

Mutação

(6)

Esporádico Hereditario

genes desconhecidos

BRCA1 & BRCA2

TP53, PTEN, CHK2, ATM, BRIP1, PALB2, RAD51C, RAD51D, FANC, CDKN2A, CDH1 5-10% 20% 5% 75% 90-95%

(7)

62y.

58y. 62y.

58y.

Heredograma: câncer de mama esporádico

(8)

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

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Síndrome de Câncer de Mama e Ovário Hereditário

NORMAL MUTADO Gene BRCA1 Deleção CT no codon 157 (17q21) (13q12-q13) I:1 I:2

II: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

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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

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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

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Dieta e Cancer

25% dos canceres poderiam ser evitados com

mudancas na dieta

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Cohort: 521.000 >20anos

Recrutamento: de 1993 a 1999

Casos de Cancer: ~26.000

Obitos: ~16.000

Cancer de mama: 6.218

Projeto EPIC

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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.

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Exercicio e cancer

Atividade fisica regular (150 min/semana) reduz

o risco de cancer de mama em ate 30%

(16)

Vitamina D e cancer de mama

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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

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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.

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• 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.

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Referências

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