NOTTINGHAM UNIVERSITY HOSPITAL NHS TRUST NOTTINGHAM BREAST INSTITUTE BREAST AND OVARIAN FAMILY HISTORY GUIDELINES

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1 NOTTINGHAM UNIVERSITY HOSPITAL NHS TRUST NOTTINGHAM BREAST INSTITUTE BREAST AND OVARIAN FAMILY HISTORY GUIDELINES GP Referrals All GP referrals for asymptomatic women with a family history of breast and/or ovarian cancer should be directed to Breast Care Nurse Specialist, Nicky Scott (NS). All women within the City Hospital catchment area currently referred directly to clinical genetics will also follow this pathway. All referrals will be sent a Family History Questionnaire. Women Identified at other Nottingham Breast or Ovarian Clinic All women should be given a Family History Questionnaire to complete and referred to NS before being given an appointment for the Family History Clinic. If a questionnaire is not available NS will arrange for one to be sent. No woman should be given a direct appointment at the Family History Clinic. Family History Questionnaires These will be returned to N.S for assessment. Women failing to return a questionnaire within 3 months will be sent one reminder letter (copy to GP) with a further copy of the questionnaire. A copy of the questionnaire will be filed in the case notes. GUIDELINES FOR THE RISK STRATIFICATION OF FAMILIES WITH BREAST/OVARIAN CANCER The family history can be defined as being low, moderate or high risk. Low Risk Moderate Risk High - Less than 2 x population lifetime risk of breast cancer x population lifetime risk of breast cancer - Greater that 3 x population lifetime risk of breast cancer NB: Women with Jewish Ancestry are around 5-10 times more likely to carry BRCA 1 or BRCA 2 mutations than women in the non-jewish population.

2 WOMEN AT LOW RISK OF BREAST CANCER These women are not currently offered regular screening. They will be sent a letter reassuring them that their family history is very unlikely to be significant. All minimal risk women aged under 50 will be entered into the Family History Clinic database. Patients with the following family histories, on the same side of the family, fall into the moderate and high risk group. Patients with the following family histories, on the same side of the family, fall into the moderate and high risk groups: MODERATE RISK 3 Relatives Three 1 st or 2 nd degree relatives with breast cancer at an average age of over 60* One relative with ovarian cancer and two 1 st or 2 nd degree relatives with breast cancer where the average age for the breast cancer is over 60*. 2 Relatives One 1 st degree relative and one 1 st or 2 nd degree relative with an average age of breast cancer over 50 and under 60*. One ovarian cancer and one 1 st or 2 nd degree relative with breast cancer over 50*. One 1 st or 2 nd degree relative with bilateral breast cancer and one 1 st or 2 nd degree relative with breast cancer over 60*. 1 Relative A 1 st degree relative with breast cancer under 40. A 1 st degree relative with male breast cancer at any age. A 1 st degree relative with bilateral breast cancer, where the average age of diagnosis is over 50. First degree relatives include parents, siblings and children. Second degree relatives include grandparents, aunts and uncles, nephews and nieces. *One should be a first degree relative unless the family history is on the paternal side of the family.

3 MAMMOGRAPHIC SCREENING Start annual screening age 40. Transfer to NHSBSP age 50yrs HIGH RISK 4 or more Relatives Four or more close relatives with breast and / or ovarian cancer *. 3 Relatives Three 1 st or 2 nd degree relatives with an average age of breast cancer under 60*. One relative with ovarian cancer and two 1 st or 2 nd degree relatives with breast cancer where the average age for the breast cancer is under 60*. One male breast cancer at any age and 2 female breast cancers with an average age under 60 2 Relatives One 1 st and one 1 st or 2 nd degree relatives with an average age of breast cancer under 50. One 1 st and one 1 st or 2 nd degree relative with ovarian cancer. One ovarian cancer and one 1 st or 2 nd degree relative with breast cancer under 50*. One 1 st or 2 nd degree relative with bilateral breast cancer and one 1 st or 2 nd degree relative with breast cancer under 60* or ovarian cancer at any age One male breast cancer at any age and a female breast cancer under 50 or an ovarian cancer at any age 1 Relative A 1 st degree relative with both breast cancer under 50 and ovarian cancer. A 1 st degree relative with bilateral breast cancer, both under 50. First degree relatives include parents, siblings and children. Second degree relatives include grandparents, aunts and uncles, nephews and nieces. *One should be a first degree relative unless the family history is on the paternal side of the family.

4 Assumptions - 2nd degree paternal confers same risk as 1 st maternal degree Other High Risk Groups Mantle Radiotherapy Known genetic syndrome (BRCA mutation carriers, Cowden s, Blooms, Peutz-Jeghers, Li Fraumeni MAMMOGRAPHIC SCREENING Start annual screening at age 35. Transfer to NHSBSP age 60yrs At first presentation these women will also attend the New Referral Family History Clinic. They will receive information on screening and if appropriate genetic testing. They will undergo screening mammography as per guidelines. These women will be invited to attend for annual screening by mammography. The women will be informed of their mammogram result by post. All abnormal mammogram results will be recalled by letter and the appropriate action taken as advised by Consultant Radiologist. Where appropriate high-risk women will be offered counselling by the Clinical Genetic Service. All women in this risk group will be entered into the Nottingham Family History Database. Women BRCA 1 & 2 positive or 50% risk by age 40 to start mammography at age 30. (Density of initial mammogram to be reviewed by Consultant Radiologist. Annual MRI will also be carried out until the age of 50yrs. Patients who have had mantle radiotherapy will also receive annual MRI until the age of 50yrs. Mutation Carriers under the age of 30yrs to see NS annually as a follow up on BFH2F.

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6 Ovarian Cancer Screening All referrals of asymptomatic women with a family history of ovarian cancer will be sent to NS. All symptomatic referrals will be sent to Consultant Gynaecologist. Asymptomatic women will be sent a questionnaire, which will be returned to NS for review. All families with a significant history of breast cancer will pass through the normal pathway as outlined above Prophylactic oophorectomy is also an option for women with a family history of ovarian cancer. This is recommended for BRCA mutation carriers. In those who cannot undergo genetic testing or for whom testing is uninformative prophylactic oophorectomy my be considered. However, such women should be referred to Clinical Genetics for a full discussion of potential risks and benefits. There is no evidence to suggest that the prophylactic oophorectomy should be sold to non-mutation carriers as a good option. Consultant Gynaecologist will see all women who have abnormal ultrasound scans or CA 125 measurements or who become symptomatic. (Ultrasounds and CA125 will not be performed routinely). There are various patient information leaflets and documentation to support this Guideline and these can be obtained from Nicky Scott Nurse Specialist Family History Ext

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8 SYMPTOMATIC GENETIC TESTING Patients with breast cancer who fulfil the above criteria for genetic testing can be offered testing without referral to Clinical Genetics. Such patients should be seen by Nicky Scott or Jackie O Sullivan initially. ASYMPTOMATIC GENETIC TESTING Patients without breast cancer who fulfil the about criteria for genetic testing can be offered testing and referred to Clinical Genetics. WOMEN CONSIDERING RISK REDUCING SURGERY All women with BRCA mutations, or those at 50% risk of carrying a mutation should be offered the opportunity to attend the Tea Party. Blood Storage Women at family history risk and high risk will be offered storage of blood from an affected relative to facilitate genetic testing should it be indicated in the future. Consent will be obtained and DNA will be stored in the Department of Molecular Genetics. Women, who test negative, where a mutation has been identified in an affected relative, will be sent a standard letter by Clinical Genetics disclosing the result and discharged from the Family History Clinic. Women who have been diagnosed with breast cancer who test positive will be informed by Nicky Scott or Jackie O Sullivan and be offered referral to the Clinical Genetic Service. They will then be referred to the appropriate Consultant Surgeon and counselled regarding risk management. They will be sent an information leaflet prior to attending for this appointment. ATYPICAL DUCTAL HYPERPLASIA (ADH) ATYPICAL LOBULAR HYPERPLASIA (ALH) LOBULAR CARCINOMA IN-SITU (LCIS) Any patient with the above diagnosis under the age of 50 years will be offered annual mammography until the age of 50yrs (Clinic BFH/MM) when they will be discharged to National Breast Screening Service (NHSBSP). Discharge from Family History Clinic Women with a moderate risk family history will be discharged to the National Screening Programme (NHSBSP) at age 50.

9 Women with a high risk family history will be discharged to the National Screening Programme (NHSBSP) at age 60. Hereditary Breast and/or Ovarian families waiting for genetic testing results or for whom genetic testing is uninformative/not possible. Such women will be discharged at age 60 yrs to the NHSBSP. Known BRCA1 and BRCA2 carriers will be screened until age 70 according to the National Breast Screening Guidelines. Non Attendees (DNA s) Failure to attend for appointment discharge back to GP no further appointment given. JAN.16

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