1. 10 November 2011 Genetic counseling for breast cancer risk Aichu Huang, MS. CGC. Department of Medical Genetics National Taiwan University Hospital

2. Role of Cancer Genetic Counselors  Pedigree interpretation and cancer risk assessment  Complex psychosocial issues  In-depth counseling and education  Ordering and interpreting genetic test  Facilitating entry into clinical studies

3. How Much Breast and Ovarian Cancer is Hereditary? Sporadic Family clusters Hereditary Breast Cancer 15%-20% 5%-10% Ovarian Cancer 5%-10% ASCO

4. When to Suspect Hereditary Cancer Syndrome  Cancer in 2 or more close relatives (mother, father, sister, brother)  Early age at diagnosis  Multiple primary tumors  Bilateral or multiple rare cancers  Constellation of tumors consistent with specific cancer syndrome (e.g.. breast and ovary)  A known genetic mutation in the family (from one or more family members who had genetic testing) ※ Data from the National Cancer Institute, USA, ASCO and Taiwan Cancer Registry 。

5. Esophageal cancerLiver cancerBreast Cancer Should I Have my breasts removed? Cancer Risk Perception

6. include:  age (a woman’s chances of getting breast cancer Increase as she gets older),  family history of breast cancer,family history  an early age at first menstrual period,  a late age at menopause,menopause  a late age at the time of birth of her first full-term baby,  Dietary factors(ex, alcohol)  Obesity is also a risk factor for breast cancer in postmenopausal women. postmenopausal Risk Factors for Breast Cancer ※ Data from the National Cancer Institute, USA and ASCO

7. In 1970ses <10 % (1 in 10) 2000 ~ 2002 13.2% (1 in 8) 2001 ~ 2003 12.7% (1 in 8) 2002 ~ 2004 12.3% (1 in 8) 2003 ~ 2005 12.0 % (1 in 8) 2004 ~ 200612.1% (1 in 8) 2005 ~ 200712.15%(1 in 8) The lifetime risk of being diagnosed with breast cancer in the United States: ※ Data from the National Cancer Institute, USA

8. Estimated new cases and deaths In Taiwan in 2010: New cases: 7,000 (female) Deaths: 1,600 (female) United States in 2011: New cases: 230,480 (female); 2,140 (male) Deaths: 39,520 (female); 450 (male) ※ Data from the National Cancer Institute, USA and Taiwan Cancer Registry 。

9.  in the United States woman’s age: 30 ~39...... 0.43 % (as 1 in 233) 40 ~49...... 1.45 % (as 1 in 69) 50 ~59...... 2.38 % (as 1 in 42) 60 ~69...... 3.45 % (as 1 in 29)  in Taiwan woman’s age: 45~49 144 per 100,000 women 50~64 140~142 per 100,000 women A chance of being diagnosed With breast cancer is: ※ Data from the National Cancer Institute, USA and Taiwan Cancer Registry 。

10. The average age of being diagnosed With breast cancer in Taiwan YearAverage ageYearAverage age 198948.8199950.1 199048.5200050.4 199149.6200151 199249.2200251.2 199349.2200351.4 199449.6200451.4 199549.2200551.8 199649.5200652 199750200752.6 199850.1200852.8 ※ Data from Taiwan Cancer Registry

11. The incidence rate diagnosed in 2004-2008 in the Unite States Race/EthnicityIncidence Rates All Races124.0 per 100,000 women White127.3 per 100,000 women Black119.9 per 100,000 women Asian/Pacific Islander93.7 per 100,000 women American Indian/Alaska Native77.9 per 100,000 women Hispanic78.1 per 100,000 women ※ Data from the National Cancer Institute, USA

12. The incidence rate diagnosed in 2008 in Asia (by WHO) CountryIncidence Rates All Races in US124.0 per 100,000 women Taiwan52.8 per 100,000 women Japan42,7 per 100,000 women Korea38.8 per 100,000 women Singapore59.9 per 100,000 women

13. Stage Distribution and 5-year Relative Survival by Stage at Diagnosis for 2001-2007 Stage at Diagnosis Stage5-year Distribution (%)Relative Survival (%) Localized 6098.6 (confined to primary site) Regional 3383.8 (spread to regional lymphnodes) Distant 523.4 (cancer has metastasized) Unknown 252.4 (unstaged) ※ Data from the National Cancer Institute, USA: All Races, Females

14. The death rate are who died in 2003-2007 in the in the Unite States Race/EthnicityDeath Rates All Races24.0 per 100,000 women White23.4 per 100,000 women Black32.4 per 100,000 women Asian/Pacific Islander12.2 per 100,000 women American Indian/Alaska Native17.6 per 100,000 women Hispanic15.3 per 100,000 women ※ Data from the National Cancer Institute, USA

15. The incidence rate and death rate from 1995-2006 in Taiwan YearNew cases Incidence Death Cases Death Rate (1/100,000) 19952,51523.539188.79 19962,95226.659879.16 19973,47830.451,0739.66 19983,71231.489958.58 19994,40538.781,0829.93 20004,64239.61,14910.14 20015,06741.911,24110.57 20025,33943.271,20310.02 20035,32542.011,38111.07 20046,17647.291,33910.33 20056,59449.191,43910.78 20066,89549.991,43910.41 ※ Data from Taiwan Cancer Registry 1995-2006 。

16. ※ Data from the National Cancer Institute, USA and Myriad Genetic Laboratories, Inc. © 2004 Genetic Testing  Beneficence – provide appropriate health care. – using early detection and effective treatment protocols to improve outcomes. – consider the sociocultural context and family dynamics to ensure medical decision-making takes places without coercion or interference. – Alleviates uncertainty and anxiety  Limitations – Positives and true negatives are most informative results – Genetic testing for BRCA1 and BRCA2 does not identify all causes of HBOC

17. Effective genetic counseling and gene test  Purpose: genetic counseling screening recommendations  Identify individuals at high risk  Getting test results: Positive result : fear and anxiety and uncertainty are a normal part offear and anxiety uncertainty learning about increased cancer risk. Negative result: no mutated gene is found  mutation absent has the same average risk as most other people mutation  "false negative“ the test reads negative but the mutation "false negative“ is actually there  Appropriate medical follow-up One month, six months, one year…. ※ Data from American Cancer Society

18. Genetic counseling should provide in an unbiased or neutral way