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.



 

PGD for inherited predisposition to cancer

 

 

 

Familial adenomatous polyposis

APC

+175100

+175100

Li-Fraumeni syndrome

p53

#151623

191170

Multiple endocrine neoplasia type I

MEN1

131100

131100

Neurofibromatosis type 1

NF1

162200

162200

Retinoblastoma

RB1

180200

180200

von Hippel-Lindau sindrome

VHL

#193300

*608537

 

 

 

 

 


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



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PGD for late on-set disorders

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