Obstetrics and Gynecology International

Research Article

Challenges in Managing Patients with Hereditary Cancer at Gynecological Services

Table 1

Demographics of patients with hereditary cancer treated in our gynecological services department between 2012 and 2018.


	Case no.	Genetic diagnosis					Cancer	Family history	Gynecological management
	Case no.	Age at diagnosis	Pathogenic mutation	Mutation point	Refseq ID	dbSNP rs no.	Cancer	Family history	Gynecological management

HBOC	1	20s	BRCA2	c.(7435 + 1_7436-1)_(7805 + 1_7806-1)dup	NM_000059.3	NA	Breast		Surveillance
	2	30s	BRCA2	c.188T > A	NM_007294.3	rs80357086	Breast	Breast cancer, mother	Surveillance
	3	30s	BRCA2	c.5576_5579delTTAA (p.Ile1859Lysfs)	NM_000059.3	rs80359520	Breast		Surveillance
	4	30s	BRCA2	p.S1882X	NM_000059.3	NA	Breast		Surveillance
	5	30s	BRCA1	c.5154G > A (p.W1718X)	NM_007294.3	rs80357239	Breast	Breast cancer, mother	RRSO (7 months after genetic diagnosis)
	6	40s	BRCA2	c.2T > G (p.M1R)	NM_000059.3	rs80358547	None	Breast cancer, mother (BRCA2, case 14)	RRSO (6 months after genetic diagnosis)
	7	40s	BRCA1	c.3122C > G (p.Ser1041Ter)	NM_007294	rs397509035	Breast	Bilateral breast cancer, mother Breast cancer, aunt	Surveillance
	8	50s	BRCA1	Not available	—	—	Ovarian	Breast cancer, sister	Surveillance
	9	50s	BRCA2	c.9117G > A (p.P3039P)	NM_000059.3	rs28897756	Bilateral breast Gastric	Breast cancer, maternal side Ovarian cancer, many relatives	RRSO (7 months after genetic diagnosis)
	10	50s	BRCA2	c.5574_5577delAATT (p.Ile1859Lsyfs3)	NM_000059	rs80359520	Breast Sigmoid colon	Sigmoid colon cancer, father Gastric cancer, aunt Breast and colon cancer, paternal grandmother	Surveillance
	11	50s	BRCA2	c.5645C > A (p.Ser1882Ter)	NM_000059	rs80358785	Breast	Ovarian cancer, mother	RRSO (4 months after genetic diagnosis)
	12	50s	BRCA2	c.5645C > A (p.Ser1883Ter)	NM_000059	rs80358785	Breast	Breast and ovarian cancer, mother	RRSO (3 months after genetic diagnosis)
	13	60s	BRCA2	c.4085delA	NM_000059.3	rs431825315	Breast	Breast cancer, father Breast and ovarian cancer, sister	RRSO (8 months after genetic diagnosis)
	14	60s	BRCA1	c.2T > G (p.M1R)	NM_000059.3	rs80358547	Breast	Breast cancer, mother and sister Ovarian cancer, grandmother and aunt	RRSO (8 months after genetic diagnosis)
	15	60s	BRCA1	c.3122C > G (p.Ser1041Ter)	NM_007294	rs397509035	Breast	Breast cancer, sister Breast cancer, daughter (case 7)	BSO scheduled for ovarian cyst

Lynch syndrome	16	20s	MSH2	p.Q130X	NM_000251.2	rs1060501989	Colon	Unknown	Surveillance
	17	20s	MSH6	c.3663delGAinsT	NA	NA	None	Colon, endometrial, ovarian cancer, mother (MSH6)	Surveillance
	18	20s	MLH1	c.381_543del (p.Ala128Trpfs8)	NM_000249.3	NA	None	Colon cancer, father (MLH1)	Surveillance
	19	30s	MLH1	c.306+1G > A (p.K70_Q102del)	NM_0000249	rs267607734	Endometrial Breast	Breast, ovarian, colon cancer, mother	MPA
	20	40s	MLH1	g.IVS3+1G > A	NA	NA	Sigmoid colon AEH, ovarian	Colon cancer, father (MLH1) and grandmother Colon and endometrial cancer, sister	TAH＋BSO
	21	70s	Not disclosed				Breast Colon Endometrial		TAH

Cowden syndrome	22	20s	PTEN	c.1026+1G > A	NM_000314	rs786201041	Bilateral breast Thyroid AEH	Father (PTEN)	D&C
Cowden syndrome	23	70s	Clinical diagnosis				Breast Thyroid	Bladder cancer, father Gastric and endometrial cancer, sister	Surveillance

Peutz–Jeghers syndrome	24	Teen	Clinical diagnosis	In house			Gastric		Surveillance
Peutz–Jeghers syndrome	25	50s	Clinical diagnosis	Others			None		Surveillance

HBOC: hereditary breast and ovarian cancer; RRSO: risk-reducing salpingo-oophorectomy; TNBC: triple negative breast cancer; AEH: atypical endometrial hyperplasia; TAH: total abdominal hysterectomy; BSO: bilateral salpingo-oophorectomy; D&C: dilatation and curettage; MPA: medroxyprogesterone acetate; PTEN: phosphatase and tensin homolog; and BRCA: breast cancer susceptibility gene.