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Items: 1 to 20 of 79

1.

A BRCA1 nonsense mutation causes exon skipping.

Mazoyer S, Puget N, Perrin-Vidoz L, Lynch HT, Serova-Sinilnikova OM, Lenoir GM.

Am J Hum Genet. 1998 Mar;62(3):713-5. No abstract available.

2.

Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

Bonnet C, Krieger S, Vezain M, Rousselin A, Tournier I, Martins A, Berthet P, Chevrier A, Dugast C, Layet V, Rossi A, Lidereau R, Frébourg T, Hardouin A, Tosi M.

J Med Genet. 2008 Jul;45(7):438-46. doi: 10.1136/jmg.2007.056895. Epub 2008 Apr 18.

PMID:
18424508
3.

[Mutational analysis of breast/ovarian cancer hereditary predisposition gene BRCA1 in Tunisian women].

Mestiri S, Monastiri K, Ben Ahmed S, Bouaouina N, Presneau N, Bignon YJ, Khairi H, Chouchane L.

Arch Inst Pasteur Tunis. 2000;77(1-4):11-5. French.

PMID:
14658222
4.

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

Risch HA, McLaughlin JR, Cole DE, Rosen B, Bradley L, Fan I, Tang J, Li S, Zhang S, Shaw PA, Narod SA.

J Natl Cancer Inst. 2006 Dec 6;98(23):1694-706.

PMID:
17148771
5.

Germline BRCA1 mutation analysis in Indian breast/ovarian cancer families.

Kumar BV, Lakhotia S, Ankathil R, Madhavan J, Jayaprakash PG, Nair MK, Somasundaram K.

Cancer Biol Ther. 2002 Jan-Feb;1(1):18-21.

PMID:
12170759
6.

Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

Gallardo M, Silva A, Rubio L, Alvarez C, Torrealba C, Salinas M, Tapia T, Faundez P, Palma L, Riccio ME, Paredes H, Rodriguez M, Cruz A, Rousseau C, King MC, Camus M, Alvarez M, Carvallo P.

Breast Cancer Res Treat. 2006 Jan;95(1):81-7. Epub 2005 Oct 27.

PMID:
16261400
7.

Hereditary breast and ovarian cancer in Cyprus: identification of a founder BRCA2 mutation.

Hadjisavvas A, Charalambous E, Adamou A, Neuhausen SL, Christodoulou CG, Kyriacou K.

Cancer Genet Cytogenet. 2004 Jun;151(2):152-6.

PMID:
15172753
8.

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing.

Jakubowska A, Górski B, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Debniak T, Hadaczek P, Scott RJ, Lubinski J.

Hum Mutat. 2001 Aug;18(2):149-56.

PMID:
11462239
9.

Nonsense mutation at codon 63 of the BRCA1 gene in Japanese breast cancer patients.

Kijima G, Murakami Y, Ohuchi N, Satomi S, Sekiya T.

Jpn J Cancer Res. 1998 Aug;89(8):837-41.

PMID:
9765620
10.

Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

Ladopoulou A, Kroupis C, Konstantopoulou I, Ioannidou-Mouzaka L, Schofield AC, Pantazidis A, Armaou S, Tsiagas I, Lianidou E, Efstathiou E, Tsionou C, Panopoulos C, Mihalatos M, Nasioulas G, Skarlos D, Haites NE, Fountzilas G, Pandis N, Yannoukakos D.

Cancer Lett. 2002 Nov 8;185(1):61-70.

PMID:
12142080
11.

BRCA1 and BRCA2 mutations in Russian familial breast cancer.

Tereschenko IV, Basham VM, Ponder BA, Pharoah PD.

Hum Mutat. 2002 Feb;19(2):184.

PMID:
11793480
12.

High occurrence of BRCA1 intragenic rearrangements in hereditary breast and ovarian cancer syndrome in the Czech Republic.

Vasickova P, Machackova E, Lukesova M, Damborsky J, Horky O, Pavlu H, Kuklova J, Kosinova V, Navratilova M, Foretova L.

BMC Med Genet. 2007 Jun 11;8:32.

13.

Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

Liede A, Malik IA, Aziz Z, Rios Pd Pde L, Kwan E, Narod SA.

Am J Hum Genet. 2002 Sep;71(3):595-606. Epub 2002 Aug 13.

14.

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.

Muller D, Bonaiti-Pellié C, Abecassis J, Stoppa-Lyonnet D, Fricker JP.

Fam Cancer. 2004;3(1):15-20.

PMID:
15131401
15.

Is BRCA1 associated with familial breast cancer in India?

Couch FJ.

Cancer Biol Ther. 2002 Jan-Feb;1(1):22-3. No abstract available.

PMID:
12197480
16.

A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.

Bergman A, Flodin A, Engwall Y, Arkblad EL, Berg K, Einbeigi Z, Martinsson T, Wahlström J, Karlsson P, Nordling M.

Fam Cancer. 2005;4(2):89-96.

PMID:
15951958
17.

The presence of hereditary BRCA1 gene mutations in women with familial breast or ovarian cancer and the frequency of occurrence of these tumours in their relatives.

Skasko E, Paszko Z, Niwińska A, Kwiatkowska E, Kruczek A, Pieńkowski T.

Eur J Gynaecol Oncol. 2004;25(4):470-4.

PMID:
15285306
18.

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX, Cartegni L, Zhang MQ, Krainer AR.

Nat Genet. 2001 Jan;27(1):55-8.

PMID:
11137998
19.

A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23.

Laskie Ostrow K, DiCioccio RA, McGuire V, Whittemore AS.

Cancer Genet Cytogenet. 2001 Jun;127(2):188-90. No abstract available.

PMID:
11428389
20.

Genomic rearrangements in the BRCA1 and BRCA2 genes.

Mazoyer S.

Hum Mutat. 2005 May;25(5):415-22. Review.

PMID:
15832305

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