Hereditary breast and/or ovarian cancer syndrome

ORPHA:145DiseaseAutosomal dominantAdult, Elderly

Ассоциированные гены15

Ген	Полное название	Тип связи	Тип гена	OMIM
PTEN	phosphatase and tensin homolog	Candidate gene tested in	gene with protein product	601728
RAD51	RAD51 recombinase	Candidate gene tested in	gene with protein product	179617
BRCA2	BRCA2 DNA repair associated	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	600185
BRIP1	BRCA1 interacting DNA helicase 1	Candidate gene tested in	gene with protein product	605882
CHEK2	checkpoint kinase 2	Candidate gene tested in	gene with protein product	604373
TP53	tumor protein p53	Candidate gene tested in	gene with protein product	191170
MRE11	MRE11 double strand break repair nuclease	Candidate gene tested in	gene with protein product	600814
NBN	nibrin	Candidate gene tested in	gene with protein product	602667
PALB2	partner and localizer of BRCA2	Candidate gene tested in	gene with protein product	610355
BARD1	BRCA1 associated RING domain 1	Candidate gene tested in	gene with protein product	601593
RAD51C	RAD51 paralog C	Disease-causing germline mutation(s) in	gene with protein product	602774
RAD50	RAD50 double strand break repair protein	Candidate gene tested in	gene with protein product	604040
RAD51D	RAD51 paralog D	Disease-causing germline mutation(s) in	gene with protein product	602954
ATM	ATM serine/threonine kinase	Major susceptibility factor in	gene with protein product	607585
BRCA1	BRCA1 DNA repair associated	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	113705

Очень частый (80–99%)3

HP:0011027Abnormality of the fallopian tube

HP:0030406Primary peritoneal carcinoma

HP:0100615Ovarian neoplasm

Частый (30–79%)1

HP:0003002Breast carcinoma

Периодический (5–29%)3

HP:0002861Melanoma

HP:0002894Neoplasm of the pancreas

HP:0012125Prostate cancer

Тип оценки	Класс распространённости	Среднее (на 100к)	Регион	Квалификация
Point prevalence	Unknown	—	Worldwide	Class only

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)