Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

GAËLLE BOUGEARD; JEAN-MARC LIMACHER; COSETTE MARTIN; FRANÇOISE CHARBONNIER; AUDREY KILLIAN; OLIVIER DELATTRE; MICHEL LONGY; PHILIPPE JONVEAUX; JEAN-PIERRE FRICKER; DOMINIQUE STOPPA-LYONNET; JEAN-MICHEL FLAMAN; THIERRY FRÉBOURG

doi:10.1136/jmg.38.4.253

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Detection of 11 germline inactivating TP53 mutations and absence of TP63 andHCHK2 mutations in 17 French families with Li-Fraumeni or Li-Fraumeni-like syndrome

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	Abstract	Full	Pdf
Apr 2001	0	44	0
May 2001	0	22	0
Jun 2001	0	19	0
Jul 2001	0	7	0
Aug 2001	0	14	0
Sep 2001	0	12	0
Oct 2001	0	22	0
Nov 2001	0	15	0
Dec 2001	0	13	0
Jan 2002	0	12	0
Feb 2002	0	12	0
Mar 2002	0	14	0
Apr 2002	0	20	0
May 2002	0	13	1
Jun 2002	0	20	0
Jul 2002	0	10	0
Aug 2002	0	8	0
Sep 2002	0	14	0
Oct 2002	0	13	0
Nov 2002	0	19	0
Dec 2002	0	17	0
Jan 2003	0	12	0
Feb 2003	0	10	0
Mar 2003	0	17	0
Apr 2003	0	13	0
May 2003	0	9	0
Jun 2003	0	9	0
Jul 2003	0	76	0
Aug 2003	0	12	0
Sep 2003	0	13	0
Oct 2003	0	62	0
Nov 2003	0	24	0
Dec 2003	0	18	0
Jan 2004	0	62	0
Feb 2004	0	14	0
Mar 2004	0	31	0
Apr 2004	0	25	0
May 2004	0	37	0
Jun 2004	0	49	1
Jul 2004	0	63	0
Aug 2004	0	78	0
Sep 2004	0	62	0
Oct 2004	14	34	0
Nov 2004	12	38	0
Dec 2004	9	37	0
Jan 2005	11	60	0
Feb 2005	7	37	0
Mar 2005	8	23	0
Apr 2005	4	20	0
May 2005	4	21	0
Jun 2005	1	13	0
Jul 2005	3	18	0
Aug 2005	0	12	3
Sep 2005	1	19	0
Oct 2005	2	15	0
Nov 2005	5	19	0
Dec 2005	1	6	0
Jan 2006	4	19	0
Feb 2006	3	24	0
Mar 2006	3	39	0
Apr 2006	7	20	0
May 2006	7	15	3
Jun 2006	4	9	0
Jul 2006	1	11	0
Aug 2006	5	15	0
Sep 2006	2	13	0
Oct 2006	1	16	0
Nov 2006	0	7	2
Dec 2006	1	10	0
Jan 2007	0	14	0
Feb 2007	1	30	0
Mar 2007	3	15	0
Apr 2007	9	12	0
May 2007	6	1	0
Jun 2007	7	4	0
Jul 2007	2	7	0
Aug 2007	4	12	0
Sep 2007	4	6	0
Oct 2007	8	6	0
Nov 2007	7	13	0
Dec 2007	6	11	0
Jan 2008	13	20	0
Feb 2008	4	14	0
Mar 2008	3	6	0
Apr 2008	2	4	0
May 2008	7	9	0
Jun 2008	7	2	0
Jul 2008	8	4	0
Aug 2008	8	2	0
Sep 2008	7	6	0
Oct 2008	3	3	0
Nov 2008	2	3	0
Dec 2008	2	6	0
Jan 2009	7	6	0
Feb 2009	5	2	0
Mar 2009	6	4	0
Apr 2009	2	1	0
May 2009	6	4	1
Jun 2009	2	5	0
Jul 2009	5	2	0
Aug 2009	1	8	2
Sep 2009	2	1	0
Oct 2009	5	1	1
Nov 2009	5	7	0
Dec 2009	4	0	0
Jan 2010	0	1	0
Feb 2010	1	2	0
Mar 2010	4	4	0
Apr 2010	3	10	0
May 2010	3	2	0
Jun 2010	4	4	0
Jul 2010	0	1	0
Aug 2010	1	2	0
Sep 2010	12	8	0
Oct 2010	4	1	0
Nov 2010	13	2	0
Dec 2010	4	5	0
Jan 2011	8	1	0
Feb 2011	5	1	0
Mar 2011	8	2	0
Apr 2011	4	5	0
May 2011	14	0	0
Jun 2011	16	6	0
Jul 2011	9	5	0
Aug 2011	20	3	0
Sep 2011	9	1	0
Oct 2011	7	1	0
Nov 2011	13	5	0
Dec 2011	13	7	0
Jan 2012	12	5	0
Feb 2012	8	5	0
Mar 2012	8	7	0
Apr 2012	13	13	0
May 2012	10	12	0
Jun 2012	6	6	0
Jul 2012	13	17	0
Aug 2012	6	3	0
Sep 2012	18	8	0
Oct 2012	21	12	0
Nov 2012	19	9	0
Dec 2012	17	7	0
Jan 2013	22	7	0
Feb 2013	6	6	0
Mar 2013	13	13	0
Apr 2013	18	9	0
May 2013	23	4	0
Jun 2013	10	10	0
Jul 2013	16	13	0
Aug 2013	12	17	0
Sep 2013	7	8	0
Oct 2013	5	6	0
Nov 2013	9	15	0
Dec 2013	6	9	0
Jan 2014	7	13	0
Feb 2014	6	10	0
Mar 2014	15	9	0
Apr 2014	9	5	0
May 2014	7	13	0
Jun 2014	9	14	0
Jul 2014	23	15	0
Aug 2014	3	5	0
Sep 2014	19	6	0
Oct 2014	6	10	0
Nov 2014	2	5	0
Dec 2014	8	4	0
Jan 2015	4	8	0
Feb 2015	8	2	0
Mar 2015	20	8	0
Apr 2015	12	11	0
May 2015	7	10	0
Jun 2015	18	8	0
Jul 2015	33	6	0
Aug 2015	56	6	0
Sep 2015	167	12	0
Oct 2015	19	5	0
Nov 2015	91	14	0
Dec 2015	52	7	0
Jan 2016	8	2	0
Feb 2016	15	3	0
Mar 2016	55	6	0
Apr 2016	7	4	0
May 2016	12	15	0
Jun 2016	10	5	0
Jul 2016	20	10	0
Aug 2016	18	5	0
Sep 2016	8	3	0
Oct 2016	10	5	0
Nov 2016	20	4	0
Dec 2016	12	5	0
Jan 2017	14	6	0
Feb 2017	2	1	0
Mar 2017	5	17	0
Apr 2017	1	15	0
May 2017	1	11	0
Jun 2017	6	18	0
Jul 2017	13	12	0
Aug 2017	23	23	0
Sep 2017	36	34	0
Oct 2017	56	46	0
Nov 2017	84	82	0
Dec 2017	97	89	0
Jan 2018	134	134	0
Feb 2018	62	60	0
Mar 2018	149	131	0
Apr 2018	49	49	0
May 2018	51	51	0
Jun 2018	32	32	0
Jul 2018	46	40	0
Aug 2018	62	62	0
Sep 2018	52	50	0
Oct 2018	60	56	0
Nov 2018	81	77	0
Dec 2018	76	74	0
Jan 2019	50	47	0
Feb 2019	69	62	0
Mar 2019	60	56	0
Apr 2019	24	24	0
May 2019	26	27	0
Jun 2019	22	20	0
Jul 2019	26	20	0
Aug 2019	20	20	0
Sep 2019	23	21	0
Oct 2019	21	15	0
Nov 2019	27	25	0
Dec 2019	22	22	0
Jan 2020	51	47	0
Feb 2020	16	13	0
Mar 2020	28	25	0
Apr 2020	14	12	0
May 2020	34	34	0
Jun 2020	18	18	0
Jul 2020	11	11	0
Aug 2020	13	11	0
Sep 2020	22	20	0
Oct 2020	44	40	0
Nov 2020	40	38	0
Dec 2020	17	17	0
Jan 2021	16	16	0
Feb 2021	14	12	0
Mar 2021	17	15	0
Apr 2021	20	8	0
May 2021	5	5	0
Jun 2021	18	18	0
Jul 2021	12	12	0
Aug 2021	19	18	0
Sep 2021	19	19	0
Oct 2021	12	12	0
Nov 2021	14	14	0
Dec 2021	11	11	0
Jan 2022	18	17	0
Feb 2022	12	12	0
Mar 2022	41	41	0
Apr 2022	11	11	0
May 2022	20	20	0
Jun 2022	32	31	0
Jul 2022	15	14	0
Aug 2022	28	28	0
Sep 2022	57	52	0
Oct 2022	31	32	0
Nov 2022	17	17	0
Dec 2022	16	13	0
Jan 2023	23	21	0
Feb 2023	35	35	0
Mar 2023	15	11	0
Apr 2023	9	9	0
May 2023	23	18	0
Jun 2023	3	2	0
Jul 2023	5	6	0
Aug 2023	11	7	0
Sep 2023	8	6	0
Oct 2023	19	16	0
Nov 2023	13	9	0
Dec 2023	50	3	0
Jan 2024	34	2	0
Feb 2024	37	9	0
Mar 2024	14	1	0
Total	4226	4848	14

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