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1.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37076566
2.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(1): 119-129, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906479
3.
Is rare cancer care organized at national health system level? Multiple case study in six EU countries.
Eur J Public Health
; 32(6): 852-857, 2022 11 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36374643
4.
The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant.
Genet Med
; 23(9): 1726-1737, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34113011
5.
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.
PLoS Genet
; 12(8): e1006248, 2016 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-27504877
6.
Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants.
Genet Med
; 24(10): 2208, 2022 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-36205748
7.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
PLoS Genet
; 10(4): e1004256, 2014 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-24698998
8.
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Breast Cancer Res
; 18(1): 112, 2016 11 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27836010
9.
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.
Breast Cancer Res
; 17: 61, 2015 Apr 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-25925750
10.
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res
; 16(6): 3416, 2014 Dec 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-25919761
11.
BRCA1/2 mutation status is an independent factor of improved survival for advanced (stage III-IV) ovarian cancer.
Int J Gynecol Cancer
; 24(8): 1395-400, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25248112
12.
A Novel Mutation of MSH2 Gene in a Patient with Lynch Syndrome Presenting with Thirteen Metachronous Malignancies.
J Clin Med
; 12(17)2023 Aug 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-37685569
13.
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
J Clin Oncol
; 40(14): 1529-1541, 2022 05 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-35077220
14.
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Breast Cancer Res
; 13(6): R110, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-22053997
15.
Apparently "BRCA-related" breast and ovarian cancer patient with germline TP53 mutation.
Breast J
; 17(4): 409-15, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21535297
16.
Microsatellite instability detection by high-resolution melting analysis.
Clin Chem
; 56(11): 1750-7, 2010 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-20852132
17.
The incidence of occult ovarian neoplasia and cancer in BRCA1/2 mutation carriers after the bilateral prophylactic salpingo-oophorectomy (PBSO): A single-center prospective study.
Eur J Obstet Gynecol Reprod Biol
; 247: 26-31, 2020 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-32059136
18.
Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).
JAMA Oncol
; 6(8): 1218-1230, 2020 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32614418
19.
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D.
J Natl Cancer Inst
; 112(12): 1242-1250, 2020 12 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-32107557
20.
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families.
J Clin Oncol
; 38(7): 674-685, 2020 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31841383