NDLI: Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain

Content Provider	Springer Nature Link
Author	Ramón y Cajal, Teresa Polo, Ana Martínez, Olga Giménez, Carles Arjona, César Llort, Gemma Bassas, Lluís Viscasillas, Pere Calaf, Joaquin
Copyright Year	2011
Abstract	Carriers of a mutation in BRCA1/2 genes confront a high lifetime risk of breast and ovarian cancer and fifty percent probability of passing the mutation to their offspring. Current options for risk management influence childbearing decisions. The indications for preimplantation genetic diagnosis (PGD) have now been expanded to include predisposition for single-gene, late-onset cancer but few cases have been reported to date despite the favorable opinion among professionals and carriers. A 28-year-old BRCA1 mutation carrier (5273G>A in exon 19) with a strong maternal history of breast cancer and 2 years of infertility decided to pursue PGD to have a healthy descendent after an accurate assessment of her reproductive options. The procedure was approved by the national regulation authority and a PGD cycle was initiated. Four out of 6 embryos harbored the mutation. The two unaffected embryos were implanted in the uterus. A singleton pregnancy was achieved and a male baby was delivered at term. Consented umbilical cord blood testing confirmed the accuracy of the technique. Individualized PGD for inherited breast predisposition is feasible in the context of a multidisciplinary team.
Starting Page	175
Ending Page	179
Page Count	5
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	11
Issue Number	2
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-12-18
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Preimplantation genetic diagnosis Hereditary breast and ovarian cancer predisposition BRCA mutation Assisted reproductive technology Biomedicine general Cancer Research Human Genetics Epidemiology
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer

Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population

Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients

An unusual BRCA mutation distribution in a high risk cancer genetics clinic

Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis

Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain

Similar Documents

Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer

Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer

Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

Complete BRCA mutation screening in breast and ovarian cancer predisposition families from a North-Eastern Romanian population

Genetic uptake in BRCA-mutation families is related to emotional and behavioral communication characteristics of index patients

An unusual BRCA mutation distribution in a high risk cancer genetics clinic

Ovarian cancer patients at high risk of BRCA mutation: the constitutional genetic characterization does not change prognosis

Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain