cancer risk assessmentbreast and ovarian cancer家族性癌症的风险assessmentbreast和卵巢癌课件

Familial Cancer Risk Assessment: Breast and Ovarian Cancer Genetics and Primary Care Case 1: Ruth Ruth, a 35 year old Jewish woman, comes for a family planning visit. You inquire about family health history and find out the following information: Maternal family history is negative for cancer Paternal family history is significant for: Paternal aunt with ovarian cancer age at 55 Paternal grandmother with breast cancer age 42 Ruth has no other risk factors or pertinent family history Case 2: Alison Alison is a 40 year old Caucasian (non-Jewish) patient who asks you for information about the “breast cancer gene test”. She states she wants this test. You ask about her family history: Mother with breast cancer - age 58 Maternal aunt with breast cancer age 65 Paternal grandmother with breast cancer age 79 Alison has no other risk factors for breast cancer She feels that with her family history, breast cancer is inevitable Outline Hereditary breast and ovarian cancer Genetic counseling and testing for hereditary breast and/or ovarian cancer Cancer family history a primary tool Screening for hereditary breast/ovarian CA in the primary care setting When and how to refer patients for genetic services Cancer Etiology: 5-10% of cases have a strong hereditary component 15-20% are “familial”/multifactorial 70-75% are thought to be sporadic Hereditary Breast/Ovarian CA Occurs in multiple generations Younger ages of onset (often 50 yrs not included; clinical data not validated Genetics referral appropriate for women with significant risk of mutation Breast/Ovarian Cancer Risk Assessment Likelihood of developing breast cancer: Gail model Claus model Likelihood of having a BRCA1 or 2 mutation Myriad risk tables BRCAPRO, Couch, Shattuck-Eidens, CAGene Likelihood of other breast cancer syndrome Pedigree analysis Case 1: Ruth Ruth, a 35 year old Jewish woman, comes for a family planning visit. You inquire about family health history and find out the following information: Maternal family history is negative for cancer Paternal family history is significant for: Paternal aunt with ovarian cancer age at 55 Paternal grandmother with breast cancer age 42 Ruth has no other risk factors or pertinent family history. Her first menses was at age 12. Case 1: Pedigree Key -Breast CA -Ovarian CA Dx 55 d. 56 Dx 42 82 yrs Ruth 35 Russian JewishPolish Jewish 3728 60 58 Case 1: Risk Assessment Gail Model: 0.3% five year risk. 11.3% lifetime risk Claus Model: No category for 1 breast CA, 1 ovarian CA in second degree relatives Lifetime risk of 10.4% based on affected paternal grandmother Limitations in each model Case 1: BRCA1/2 Risks Myriad Table: 28.6% risk of mutation in patient 41.3% risk of mutation in grandmother Referral for Cancer Genetic Counseling is appropriate For cancer risk assessment and discussion of genetic testing for BRCA1/2 Consider cancer genetic counseling referral if: Myriad table indicates significant risk for BRCA1/2 mutation Family medical history is suspicious for a hereditary cancer syndrome Client has extreme anxiety about the cancer family history Client has questions beyond the scope of your practice “High/Genetic Risk” Indications for referral Two 1st degree, or one 1st and one 2nd degree relative in the same lineage with breast cancer 50 yrs 3 or more family members (1st or 2nd degree) with breast cancer, same lineage, any age Male with breast CA + breast or ovarian CA in a relative “High/Genetic Risk” Indications for referral (cont.) Patient or 1st degree relative with breast CA 40 yrs, with or without family history Two or more cases of ovarian CA, same lineage Ashkenazi Jewish ancestry and any family history of breast 50 or ovarian cancer, any age Both breast and ovarian CA, same lineage Case 2: Alison Alison is a 40 year old Caucasian (non-Jewish) patient who asks you for information about the “breast cancer gene test”. She states she wants this test. You ask her about her family history: Mother with breast cancer - age 58 Maternal aunt with breast cancer age 65 Paternal grandmother with breast cancer age 79 Alison has no other risk factors for breast cancer. Menses began at age 11. 1st child at age 25. She feels that with her family history, breast cancer is inevitable Case 2: Pedigree Dx 58 65 yr Dx 65 71 yr Dx 79 d.81 Caucasian mixSwedish / Finnish Key: -Breast CA Alison 40 yr 15 yr Case 2: Risk Assessment Gail Model: 5 year risk of 1.2% / lifetime risk of 20.4% Claus Model: Lifetime risk of 18.8% Myriad table: 3.4% risk of BRCA1/2 mutation using family history Pedigree analysis: no indications of other breast cancer syndromes Patient concerns “Moderate/Familial” Risk Clustering of cancer cases seen in the family Ages of onset not strikingly young Risks for first degree relatives increased Risk depends on number of family members affected, how closely related, ages of onset Multiple low-power genes may play a role and interact with environmental triggers Case 2: Pedigree Dx 58 65 yr Dx 65 71 yr Dx 79 d.81 Caucasian mixSwedish / Finnish Key: -Breast CA Alison 40 yr Risk Based Management Moderate/Familial: BSE monthly; CBE once or twice a year Mammogram once a year starting at 35 or 5-10 yrs prior to earliest case of breast cancer Immediate biopsy of any suspicious findings Option: Chemoprevention Lifestyle changes Case 2: Assessment Patient is in “Moderate/Familial” risk category Can begin breast cancer screening by age 35 Counseling issues: Low risk for BRCA1 or BRCA2 mutation Screening and preventive strategies Psychosocial perceived risk, fears Support resources Referral to genetics if patient anxiety remains high or other questions arise Preventive lifestyle measures Increase exercise 30 min. or more most days Weight control Diet ? (results inconclusive): Less saturated, animal and trans fat, more fish Less refined flour, sugar More fruits/vegetables, whole grains, beans, nuts More fiber, antioxidant supplements? (data limited) Alcohol: less than 1-2 drinks/day Breast feeding Oregon Genetics Providers Portland Oregon Health & Science University Legacy Health Care Northwest Perinatal Services Kaiser-Pe