High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area

Table 2 Pathogenic germline BRCA2 mutations in breast and ovarian cancer patients from the Prague area

Family no.	Mutation description				Method of detection	No. of cancers in a family and age at onset
	Exon	Traditional nomenclature	Approved nomenclature	Predicted effect		Breast cancer (bilateral)	Mean age at diagnosis	Other cancers (age at onset)
F-263	11	c.3036_3039delACAA	c.2808_2811delACAA	p.Lys936fsX958	PTT	3 (1)	41	-
F-279	11	c.3303G>T; 3304A>T	c.3075G>T; 3076A>T	p.Lys1025Asn; p.Lys1026X	PTT	1	50	Ovarian (47, 50)
F-348	11	c.4167delC^a	c.3939delC^a	p.Tyr1313fsX	PTT	-	-	Ovarian (46, 58), lung (?)
F-237	11	c.4203_4206dupTGCT	c.3975_3978dupTGCT	p.Ala1327fsX1331	PTT	2	38	Stomach (?)
F-298	11	c.5466dupT	c.5238dupT	pAsn1747fsX	PTT	1	41	Ovarian (59)
F-304	11	c.5873C>A	c.5645C>A	p.Ser1882X	PTT	3	61	Ovarian (49), colon (67)
F-49	11	c.5910C>G	c.5682C>G	p.Tyr1894X	PTT	2 (1)	45	Lung (?)
F-67	11	c. 5991dupT^a	c.5763dupT^a	p.Ala1922fsX1923^a	PTT	1	48	Ovarian (49), esophagus (?)
F-327	11	c. 5991dupT^a	c.5763dupT^a	p.Ala1922fsX1923^a	PTT	1	32	-

Position in cDNA is according to GenBank accession number U43746. ^aNovel mutations. PTT = protein truncation test.

ISSN: 1465-542X