Xanit Hospital Internacional Avenida de los Argonautas s/n, 29630, Benalmádena, Málaga. Tlf: 952 367 190 - Fax: 952 367 191 - www.xanit.net Xanit Oncology Institute Xanit Oncology Institute Cancer screening and Genetics Risk Cancer screening and Genetics Risk Assessment Counseling program Assessment Counseling program Dr Rafael Trujillo Vilchez Hospital Xanit Internacional
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Xanit Oncology Institute Xanit Oncology Institute Cancer screening and Genetics Risk Assessment Counseling Cancer screening and Genetics Risk Assessment Counseling
In this conference I will explained our Cancer screening and Genetics Risk Assessment Counseling program at Xanit Oncology Institute and the scientific basis that support both programs. Here is a brief resume of the conference; estimation of the premature deaths that could have been avoided through screening varies from 3% to 35%, depending on a variety of assumptions. Beyond the potential for avoiding death, screening may reduce cancer morbidity since treatment for earlier-stage cancers is often less aggressive than that for more advanced-stage cancers.
Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history (maternal or paternal lineage) with features suggestive of hereditary cancer.[5] These features vary by type of cancer and specific hereditary syndrome. Criteria have been published to help identify families who may benefit from a referral to genetic counseling.[2,6]
INTRODUCTIONINTRODUCTION
The following are features that suggest hereditary cancer:The following are features that suggest hereditary cancer:
Unusually early age of cancer onset (e.g., premenopausal breast cancer). Multiple primary cancers in a single individual (e.g., colorectal and endometrial cancer). Bilateral cancer in paired organs or multifocal disease (e.g., bilateral breast cancer or multifocal
renal cancer). Clustering of the same type of cancer in close relatives (e.g., mother, daughter, and sisters with
breast cancer). Cancers occurring in multiple generations of a family (i.e., autosomal dominant inheritance). Occurrence of rare tumors (e.g., retinoblastoma, adrenocortical carcinoma, granulosa cell
tumor of the ovary, ocular melanoma, or duodenal cancer). Unusual presentation of cancer (e.g., male breast cancer). Uncommon tumor histology (e.g., medullary thyroid carcinoma). Rare cancers associated with birth defects (e.g., Wilms tumor and genitourinary abnormalities). Geographic or ethnic populations known to be at high risk of hereditary cancers. Genetic
testing candidates may be identified based solely on ethnicity when a strong founder effect is present in a given population (e.g., Ashkenazi heritage and BRCA1/BRCA2 mutations). [7,8]
Process of genetic education and counselingProcess of genetic education and counseling
As part of the process of genetic education and counseling, genetic testing may be considered when the following factors are present: An individual's personal history (including ethnicity) and/or family history is suspicious
for a genetic predisposition to cancer. The genetic test has sufficient sensitivity and specificity to be interpreted. The test will impact the individual's diagnosis, cancer management or cancer risk
management, and/or help clarify risk in family members.[9,10] A candidate for genetic testing receives genetic education and counseling before testing to
facilitate informed decision making and adaptation to the risk or condition.[11] Genetic education and counseling gives an individual time to consider the various medical uncertainties, diagnosis, or medical management based on varied test results, and the risks, benefits, and limitations of genetic testing.
All this issues will be fully thoroughly explained during the conference at Xanit Hospital.
Cancer risk assessment is a multi-step process
Provide Provide post-test post-test counselincounselin
g and g and follow-upfollow-up
Identify Identify hereditarhereditar
y risk y risk patientspatients
Provide Provide risk risk
assessmenassessmentt
Provide Provide informed informed consentconsent
Select and Select and offer testoffer test
Disclose Disclose resultsresults
The cancer family history is the key to:
Accurate risk assessment
Effective genetic counseling
Appropriate medical follow-up
Taking a cancer family history• Obtain at least a three-generation pedigree• Ask about all individuals in the family
and record:– age at cancer diagnosis, age at and cause of death– primary vs metastatic cancer– precursor lesions, bilateral cancer
• Record ethnicity and race• Verify with medical records when possible
Cancer Risk Assessment (for high risk breast cancer)
• Attempts to assist patient in understanding:– Medical facts– Mode of inheritance– Risk of getting breast and/or ovarian cancer (again)– Implications for daily life
• Options for dealing with the risk– Breast surveillance– DNA testing– Prophylactic mastectomy and/or oophorectomy– Chemoprevention (tamoxifen, SERM, OCP)
Gail model• Breast Cancer Detection and Demonstration Project
• Used to determine lifetime breast cancer occurrence risk• Used to determine appropriateness for prophylactic
tamoxifen therapy• Incorporates
– Age– Reproductive history– Benign breast disease history– Breast cancers in mother or sisters
Pitfalls of Gail model• Does not include other cancers in model
– Ovarian, pancreatic, thyroid, male breast• Does not include second-degree relatives
– Aunts, uncles, grandparents• Does not include paternal side• Does not include age of breast cancer diagnosis
in relatives
Cancer and Steroid Hormone Study
Three-generation pedigree
Breast Ca,
dx 4135
German/Polish English/Irish
Breast Ca, dx 49
d. 80
67 5565Diabetes,
dx 45
52
30
d. 70 d. 85
5962
d. 52
Claus risk for breast cancer• Claus table for two second-degree relatives• Probability to age 79 = 20.9%
– To age 39 = 2.4%– To age 49 = 6.1%– To age 59 = 11.4%– To age 69 = 16.9%
• Risk can be “used up”– A 59 year old woman with no cancer
• 20.9% risk of breast cancer by age 79?• Or 9.5% risk of breast cancer by age 79?
MYTHS:• “Cancer on the father’s side
of the family doesn’t count.”• “Ovarian cancer in the
family history is not a factor in breast cancer risk.”
• “The most important thing in the family history is the number of women with breast cancer.”
Misconceptions about family history
TRUTHS:•Half of all women with hereditary risk inherited it from their father.•Ovarian cancer is an important indicator of hereditary risk, although it is not always present.•Age of onset of breast cancer is more important than the number of women with the disease.
Hereditary Breast and Ovarian Cancer
Sporadic
BRCA1 (62%) Other Other
genesgenes(16%)(16%)
BRCA2 (32%)
7-10%7-10%
Hereditary
ASCO
Features that indicate increased likelihood of having BRCA mutations
• Multiple cases of early onset breast cancer• Ovarian cancer (with family history of breast or ovarian
cancer)• Breast and ovarian cancer in the same woman• Bilateral breast cancer• Ashkenazi Jewish heritage • Male breast cancer
ASCO
BRCA1-Associated Cancers: Lifetime Risk
Possible increased risk of other cancers (eg, prostate, colon)
Breast cancer 50%85% (often early age at onset)
Second primary breast cancer 40%60%
Ovarian cancer 15%45%
ASCO
BRCA1-Linked Hereditary Breast and Ovarian Cancer
NoncarrierBRCA1-mutation carrierAffected with cancer
Breast, dx 59
Breast, dx 45d. 89
92 86
73 68 Ovary, dx 59d. 62
71
Breast, dx 36
36
ASCO
BRCA2-Associated Cancers: Lifetime Risk
Increased risk of prostate, laryngeal, and pancreatic cancers