|
Conditions for which a PGD protocol for inherited predisposition to cancer is available in our Centre
 PGD is available for several hereditary cancers such as Li–Fraumeni
syndrome, Neurofibromatosis type 1 and 2, Von Hippel–Lindau
syndrome, Retinoblastoma and BRCA1.
The two most prevalent syndromes are breast and hereditary
non-polyposis colon cancers that are associated with
mutations in the BRCA1/2 genes and MSH2 /MLH1 genes
respectively. Other syndromes include multiple endocrine
neoplasia (MEN1, MEN2 genes), retinoblastoma (RB1 gene),
Neurofibromatoses (NF1, NF2 genes), Li Fraumeni syndrome
(p53 gene) and Familial Polyposis (FAP gene).
All these
cancers are autosomal dominant traits that usually manifest
in adulthood, but can occur occasionally in children.
Malfunction of tumour suppressor genes, impairment of DNA
repair genes or the transformation of a normal gene into an
oncogene are well known events that lead to the development
of these genetic cancers.
Our experience in PGD for inherited cancer susceptibility
|
Disease |
Gene |
No.
of Cycles |
No.
of Couples |
No.
of clinical pregnancies |
No.
of pregnancies still ongoing |
No.
of pregnancies delivered |
| Li-Fraumeni
Syndrome |
p53
|
2
|
1
|
0
|
0
|
0
|
|
Neurofibromatosis type 1 |
NF1
|
4
|
3
|
1
|
1
|
0
|
|
Retinoblastoma |
RB1
|
4
|
2
|
0
|
0
|
0
|
| von
Hippel-Lindau syndrome |
VHL
|
1
|
1
|
0
|
0
|
0
|
|
Total |
|
11
|
7
|
1
|
1
|
0
|
Next :
PGD for late on-set disorders
|
