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Table 4 PALB2 mutation studies in breast cancer

From: Identification of a novel truncating PALB2mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

Cases

Carriers/total probands studied

Controls

Carriers/total probands studied

Odds ratio (95% confidence interval; P value)

Unselected breast cancer (Finland)a [12]

18/1,918 (0.9%)

Finnish Red Cross blood donorsb

6/2,501 (0.2%)

3.91 (1.5–12.1; 0.002)c

Familial breast cancerd (Finland) [12]

3/113 (2.7%)

-

6/2,501 (0.2%)

11.1 (1.8–52; 0.006)c

Familial breast cancere (UK) [10]

10/923 (1.1%) Female breast cancer only 9/908 (1.0%)

1958 Birth Cohort collection, all aged 48

0/1,084 (0%)

2.3 (1.4–3.9; 0.0025)

<50 years: 3.0 (1.4–5.5, NS)

>50 years: 1.9 (0.8–3.7, 0.35)

Strongly familial breast cancer (Canada) [13]

1/68f (1.5%)

-

-

-

Breast cancer diagnosed in French-Canadian women <50 years of ageg (Quebec) (the present study)

2/356 (0.56%)

Newborns, Quebec City, 1996–2003

0/6,440 (0%)

-(3.4–∞, 0.0027)

  1. aMean age 57.7 years (range 23 to 95 years).
  2. bMean age 42.0 years (range 18 to 65 years).
  3. cRecalculated from the original data.
  4. dSequenced and negative for BRCA1, BRCA2, CHEK2, and TP53. Sixty-five were strongly familial, and 48 were moderately strong, with at least 2 cases of breast and/or ovarian cancer in first- or second-degree relatives.
  5. eScreening started with 96 BRCA1/2- families. Thirty-five other genes have been screened in this series. The familial case sequenced was the affected proband (male or female) from a family with at least 3 cases of breast cancer diagnosed at any age. All probands were sequenced for BRCA1/2 and were also negative for large deletions. 'Non-UK ethnic groups' were excluded. The median age of the probands was 49 years.
  6. fCarrier individual was of Scottish descent. All cases were sequence-negative for BRCA1/2.
  7. gMedian age 43 years (range 23 to 49 years).
  8. NS: Not stated.