Intensive screening

If you have a genetic predisposition to breast, ovarian or prostate cancer, screening is crucial. Screening does not reduce the risk of cancer, but allows it to detect certain types of cancer at an early stage, when therefore cancer is more treatable. Please keep in mind that this is valid for the breast, but not for the ovaries, as early stage ovarian cancer at an early stage cannot currently be detected through radiological screening. However, there are solutions that can considerably limit the risks of ovarian (and breast) cancer.

The screening guidelines proposed below were prepared by the Oncogenetics Working Group of the Belgian Society of Human Genetics. These are general guidelines and will need to be adapted by your doctors, based on your family history and/or on genetic arguments (e.g., hypomorphic variants with lower penetrance, etc.).

Note that when we use the terms ‘women’ and ‘men’, we are referring to the sex you were assigned at birth.

Admin info

As for reimbursement, it is necessary to provide your insurance company (mutuelle) with Annex 86. This is a document which will be provided by your doctor in order to justify reimbursement of the various radiological examinations necessary for the monitoring of women at risk. You can download the annex here: french / dutch.

Breast cancer (women)


BRCA 1/2, PALB 2	Clinical examination and ecography every 6 months from 25 years old 25* – 35 years old: annual breast MRI Consider one baseline mammogram at 30 years old to detect potential microcalcifications 35 – 65 years old: annual breast MRI and annual mammogram (+/- ultrasound when indicted by radiologist) alternating every 6 months 65 – 75 years old: annual mammography (if quality is sufficient) >75 years old: consider mammogram every 2 years *Or 5 y younger than youngest diagnosis in the family if diagnosis <30y
CHEK2	Clinical examination and ecography every 6 months from 25 years old 35 – 65 years old: at least yearly breast MRI with 1-incidence mammogram +/- ultrasound if indicated by radiologist (or start 5 years before the youngest diagnosis in family if diagnosis <40y) 65 – 75 years old: annual mammography (+/- ultrasound) >75 years old: consider mammogram every 2 y (if patient is in good health) Comments: when a CHEK2 mutation is found in absence of a family history of breast cancer, it is reasonable to downgrade screening to annual mammogram starting at 40 years old, as breast cancer risk is estimated to be 20% for CHEK2 women without family history (first and second degree) If you have a homozygous CHEK2 mutation, breast cancer screening as for BRCA carriers Recommendations for female non-carriers with a first degree relatives (sister, daughter/mother) with breast cancer in CHEK2 families: 40 – 50 y: Annual mammogram 50 – 75 y: Mammogram every 2 years
ATM	Clinical examination and ecography every 6 months from 25 years old 35 – 65 years old: at least yearly breast MRI with 1-incidence mammogram +/- ultrasound if indicated by radiologist (or start 5 years before the youngest diagnosis in family if diagnosis <40y) 65 – 75 years old: annual mammogram (+/- ultrasound) >75 years old: consider mammogram every 2 y (if patient is in good health) Comments: If you carry the high-risk variant ‘ATM c.7271T>G (V2424G)’, breast screening as for BRCA carriers is recommended Recommendations for female non-carriers with a first degree relatives (sister, daughter/mother) with breast cancer in ATM families: 40 – 50 y: Annual mammogram 50 – 75 y: Mammogram every 2 years
RAD51C and RAD51D	Clinical examination and ecography every 6 months from 25 years old 35 – 65 years old : at least yearly breast MRI with 1-incidence mammogram +/- ultrasound if indicated by radiologist (or start 5 years before the youngest diagnosis in family if diagnosis <40y) 65 – 75 years old: annual mammography (+/- ultrasound when indicated by radiologist) >75 years old: consider mammogram every 2 years (if patient is in good health) Comments: when a coincidental RAD51C/RAD51D mutation is found in absence of a family history of breast cancer (and an informative pedigree) it is reasonable to downgrade screening to annual mammogram starting at 40y, as breast cancer risk is estimated to be 20% for RAD51C/RAD51D women without family history Recommendations for female non-carriers with a first degree relatives (sister, daughter/mother) with breast cancer in RAD51/D families: 40 – 50 y: Annual mammogram 50 – 75 y: Mammogram every 2 years
BARD1	Clinical examination and ecography every 6 months from 25 years old 35 – 65 years old: at least yearly breast MRI with 1 incidence mammogram +/- ultrasound if indicated by radiologist (or start 5 years before the youngest diagnosis in family if diagnosis <40y) 65 – 75 years old: annual mammography (+/- ultrasound when indicted by radiologist) >75y: consider mammogram every 2 years (if patient is in good health) Comments: when a coincidental BARD1 mutation is found in absence of a family history of breast cancer (and an informative pedigree) it is reasonable to downgrade screening to annual mammogram starting at 40y, as breast cancer risk is estimated to be lower for BARD1 women without family history Recommendations for female non-carriers with a first degree relatives (sister, daughter/mother) with breast cancer in BARD1 families: 40 – 50 y: Annual mammogram 50 – 75 y: Mammogram every 2 years
BRIP 1, MLH1, MSH2, MSH6	No recommendations
Breast screening also includes self-check! Every woman should check her breasts regularly and be aware of any changes. You should feel your breasts with the palm of your hand systematically, once a month, 5-10 days after your menstrual period (if applicable). You should also look at your breasts in different positions. If there are changes, you should inform your gynaecologist and/or general doctor immediately. All women, with or without genetic predisposition to cancer, should practise it from their twenties. For more detailed information, check the website Know Your Lemons (available in multiple languages).

Breast cancer (men)


BRCA 2	Consider annual clinical exam by physician from age 40
BRCA 1, PALB 2, CHEK 2, ATM	Routine screening not recommended
RAD51C and RAD51D, BARD 1, MLH1, MSH2, MSH6, BRIP1	No recommendations

Ovarian cancer


BRCA 1	Risk-reducing surgery is recommended (tailored program could be offered if you refuse risk reducing bilateral salpingo-oophorectomy ≥ 40 y). Risk-reducing surgery is recommended.
BRCA 2, PALB 2, RAD51C, RAD51D, BRIP 1	Risk-reducing surgery is recommended (tailored program could be offered if you refuse risk reducing bilateral salpingo-oophorectomy ≥ 50 y).
MLH1, MSH2, MSH6	Risk-reducing surgery is recommended (tailored program could be offered if you refuse risk reducing bilateral salpingo-oophorectomy ≥ 40 y).
CHEK2, ATM, BARD 1	No recommendations

Prostate cancer


BRCA 1, BRCA 2, CHEK 2, ATM	Annual PSA (Prostate Specific Antigen) and digital prostate exam from age 50 (or 10 years earlier than youngest diagnosis, whichever comes first)
PALB 2, RAD51C, RAD51D, BARD 1, BRIP 1, MLH1, MSH2, MSH6	No recommendations

Pancreatic cancer


BRCA 1, PALB 2, ATM	Smoke cessation is recommended If ≥1 first degree relative with pancreatic cancer: consider discussing pros and cons of screening
BRCA 2	Smoke cessation is recommended If ≥1 first degree relative or ≥ 2 relatives of any degree with pancreatic cancer: consider discussing pros and cons of screening
CHEK2, BARD1, RAD51C and RAD51D, BRIP 1, MLH1, MSH2, MSH6	No recommendations

Other types of cancer


MLH1, MSH2, MSH6	For more details and surveillance recommendations according to Lynch guidelines (cfr Lynch workgroup: www.Belgianfapa.be)

As for the TP53 mutation (cause of Li-Fraumeni syndrome), surveillance protocols for carriers bearing disease-causing TP53 variants have recently been elaborated at international level (in the table below and at the following link): Guidelines for the identification of individuals who should be tested for germline disease-causing TP53 variants and for their subsequent clinical management. The benefits of the heavy protocols described in the guidelines should be carefully analysed and discussed in each family.


Exam	Periodicity	Age	Comments
Clinical examination with, in children, specific attention to signs of virilisation or early puberty and measurement of blood pressure and, in patients who received radiotherapy, to occurrence of basal cell carcinomas within the radiotherapy field	Every 6 months	Birth - 17 years old	/
	Annual	As of 18 years old	/
Whole-Body MRI without gadolinium enhancement	Annual	As of birth	High cancer risk TP53 variant or patient previously treated by chemotherapy or radiotherapy
Whole-Body MRI without gadolinium enhancement	Annual	As of 18 years old
Breast (women) MRI	Annual	20 - 65 years old
Brain MRI**	Annual	Birth - 18 years old	High cancer risk TP53 variant*
Brain MRI**	Annual	18 - 50 years old
Abdominal ultrasound	Every 6 months	Birth - 18 years old
Urine steroids	Every 6 months	Birth - 18 years old	When abdominal ultrasound does not allow a proper imaging of the adrenal glands
Colonoscopy	Every 5 years	As of 18 years old	Only if the carrier received abdominal radiotherapy for the treatment of a previous cancer or if there is a familial history of colorectal tumours suggestive of an increased genetic risk

*A germline disease-causing TP53 variant should be considered as “high risk” if the first person where the TP53 mutation was found has developed a childhood cancer; or childhood cancers have been observed within the family; or this variant has already been detected in other families with childhood cancers; or this variant corresponds to a dominant-negative missense variant.

**In children, brain MRI should alternate with the Whole-Body MRI, so that the brain is imaged at least every 6 months.

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