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10 November 2011
Genetic counseling for breast cancer risk
Aichu Huang, MS. CGC.Department of Medical Genetics
National Taiwan University Hospital
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
How Much Breast and Ovarian Cancer is Hereditary?
SporadicFamily clustersHereditary
Breast Cancer
15%-20%
5%-10%
Ovarian Cancer
5%-10%
ASCO
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 cancersConstellation 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 。
Esophageal cancer Liver cancer Breast Cancer
Should I Have my breasts removed?
Cancer Risk Perception
include: age (a woman’s chances of getting breast cancer Increase as she gets older),
family history of breast cancer,
an early age at first menstrual period,
a late age at 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.
Risk Factors for Breast Cancer
※Data from the National Cancer Institute, USA and ASCO
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 ~ 2006 12.1% (1 in 8)
2005 ~ 2007 12.15%(1 in 8)
The lifetime risk of being diagnosedwith breast cancer in the United States:
※Data from the National Cancer Institute, USA
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 。
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 。
The average age of being diagnosed With breast cancer in Taiwan
Year Average age Year Average age1989 48.8 1999 50.11990 48.5 2000 50.41991 49.6 2001 511992 49.2 2002 51.21993 49.2 2003 51.41994 49.6 2004 51.41995 49.2 2005 51.81996 49.5 2006 521997 50 2007 52.61998 50.1 2008 52.8
※Data from Taiwan Cancer Registry
The incidence rate diagnosed in 2004-2008 in the Unite States
Race/Ethnicity Incidence Rates
All Races 124.0 per 100,000 women
White 127.3 per 100,000 women
Black 119.9 per 100,000 women
Asian/Pacific Islander 93.7 per 100,000 women
American Indian/Alaska Native 77.9 per 100,000 women
Hispanic 78.1 per 100,000 women※Data from the National Cancer Institute, USA
The incidence rate diagnosed in 2008 in Asia (by WHO)
Country Incidence Rates
All Races in US 124.0 per 100,000 women
Taiwan 52.8 per 100,000 women
Japan 42,7 per 100,000 women
Korea 38.8 per 100,000 women
Singapore 59.9 per 100,000 women
Stage Distribution and 5-year Relative Survival by Stage at Diagnosis for 2001-2007
Stage at Diagnosis Stage 5-yearDistribution (%) Relative Survival (%)
Localized 60 98.6 (confined to primary site) Regional 33 83.8 (spread to regional lymphnodes) Distant 5 23.4 (cancer has metastasized) Unknown 2 52.4 (unstaged)
※Data from the National Cancer Institute, USA: All Races, Females
The death rate are who died in 2003-2007 in the in the Unite States
Race/Ethnicity Death Rates
All Races 24.0 per 100,000 women
White 23.4 per 100,000 women
Black 32.4 per 100,000 women
Asian/Pacific Islander 12.2 per 100,000 women
American Indian/Alaska Native 17.6 per 100,000 women
Hispanic 15.3 per 100,000 women
※Data from the National Cancer Institute, USA
The incidence rate and death rate from 1995-2006 in Taiwan
Year New casesIncidence
Death CasesDeath Rate
(1/100,000) (1/100,000)1995 2,515 23.53 918 8.791996 2,952 26.65 987 9.161997 3,478 30.45 1,073 9.661998 3,712 31.48 995 8.581999 4,405 38.78 1,082 9.932000 4,642 39.6 1,149 10.142001 5,067 41.91 1,241 10.572002 5,339 43.27 1,203 10.022003 5,325 42.01 1,381 11.072004 6,176 47.29 1,339 10.332005 6,594 49.19 1,439 10.782006 6,895 49.99 1,439 10.41
※Data from Taiwan Cancer Registry 1995-2006 。
※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
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 of
learning about increased cancer risk.Negative result: no mutated gene is found
mutation absent has the same average risk as most other people "false negative“ the test reads negative but the mutation is actually thereAppropriate medical follow-up
One month, six months, one year….
※Data from American Cancer Society
Genetic counseling should provide in an unbiased or neutral way