If you are a researcher, genetic counsellor, or clinician, please consider referring your patients with pathogenic or likely pathogenic PALB2 mutation to the PALB2 Interest Group.
Please download and print the PALB2 leaflet in PDF format.
We are happy to include all individuals with pathogenic or likely pathogenic PALB2 mutations.
You can either consent patients using your own protocols which allow you to send us anonymised data, or please ask your patients to contact us directly- we will then provide the necessary information and consent forms to sign.
Please send us updates if you test more members of a PALB2 family.
How to send us data
There are 3 ways to send us data on your families:
1) Complete the CIMBA-style data entry template (we can email this to you).
2) Email us anonymised pedigrees and we can do the data entry.
3) If you have the data in an electronic format e.g. BOADICEA or Progeny we can work with these formats directly.
It is important to include as much information as you can about unaffected and we also need to know what ascertainment criteria you used to select the families for testing.
Please clarify how the families you have contributed were ascertained by giving an answer to the question below. If the families you have contributed were ascertained in more than one way (e.g. through screening of multiple case families and separately through screening of unselected patients) please state this – in this case we would need to identify the families under each ascertainment scheme.
How were you families ascertained?
- Based on family history of cancer – research
- Based on family history of cancer – clinics
- Unselected – research
- Unselected – other, please also specify whether: a) bilateral breast, b) triple negative, c) male breast cancer, d) ovarian cancer, e) multiple primary tumors
For each type of ascertainment, if specific selection criteria were used, please provide a full description.
Please note we may need to get back to you with various questions as there are quite a few QC steps before the families can be analysed.
Please get in touch so together we can help future generations. Thank you.