Detalhe da pesquisa
1.
Analysis of rare disruptive germline mutations in 2135 enriched BRCA-negative breast cancers excludes additional high-impact susceptibility genes.
Ann Oncol
; 33(12): 1318-1327, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122798
2.
Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer.
Hered Cancer Clin Pract
; 20(1): 32, 2022 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36068545
3.
European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.
Br J Surg
; 108(5): 484-498, 2021 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043773
4.
A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome.
BJOG
; 128(4): 728-736, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32725920
5.
Attitudes towards risk-reducing early salpingectomy with delayed oophorectomy for ovarian cancer prevention: a cohort study.
BJOG
; 128(4): 714-726, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803845
6.
Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.
Ann Oncol
; 31(7): 873-883, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32240795
7.
The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis.
Genet Med
; 21(10): 2167-2180, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31086306
8.
Global Disparities in Breast Cancer Genetics Testing, Counselling and Management.
World J Surg
; 43(5): 1264-1270, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610270
9.
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
Ann Oncol
; 34(1): 33-47, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36307055
10.
Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 167(3): 779-785, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29116468
11.
Spinal ependymomas in NF2: a surgical disease?
J Neurooncol
; 136(3): 605-611, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29188529
12.
Low Lifetime Risk of Contralateral Breast Cancer in a Middle-Income Asian Country: Evidence to Guide Post-treatment Surveillance.
World J Surg
; 42(5): 1270-1277, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29124356
13.
'For me it's about not feeling like I'm on a diet': a thematic analysis of women's experiences of an intermittent energy restricted diet to reduce breast cancer risk.
J Hum Nutr Diet
; 31(6): 773-780, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926996
14.
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD).
BMC Med Genet
; 18(1): 40, 2017 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28381238
15.
Creation of an international registry to support discovery in schwannomatosis.
Am J Med Genet A
; 173(2): 407-413, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27759912
16.
Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.
Gynecol Oncol
; 144(3): 491-495, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065618
17.
False-negative MRI breast screening in high-risk women.
Clin Radiol
; 72(3): 207-216, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-27932250
18.
Hearing optimisation in neurofibromatosis type 2: A systematic review.
Clin Otolaryngol
; 42(6): 1329-1337, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371358
19.
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
Neurogenetics
; 17(2): 83-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26803492
20.
Genetic testing in a cohort of young patients with HER2-amplified breast cancer.
Ann Oncol
; 27(3): 467-73, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681682